Courses MCQ Flashcards
1
Q
In diabetic patient with sensor which the following the recommended RBS target of the (TIR) Time in range :
a) The target range more than 75%
b) The level 1 hypoglycemia less than 10%
c) The level 1 hyperglycemia less than 25%
d) The level 2 hyperglycemia less than 10 %
A
Answer C
Dr Bahha 2023
2
Q
Regarding the exercise in type 1 diabetes from ISPAD 2022 guidelines. which is true:
a) Children and adolescents with T1D should be encouraged and supported to achieve the recommended 90 min of moderate to vigorous intensity PA every day
b) There is an increased risk of hypoglycemia during, shortly after, and up to 6 h after exercise due to increased insulin sensitivity
c) A history of severe hypoglycemia in the preceding 1 week is generally a contraindication to exercise
d) Insulin should be administered in areas not actively engaged in muscle contraction.
A
Answer D
Dr Bahha 2023
3
Q
Regarding the sick day management in type 1 diabetes from ISPAD 2022 guidelines. which is true:
a) Completely stop insulin if the RBS low even with +ve ketone
B ) monitor glucose, either blood or interstitial glucose and ketone levels at least every 3-4 h.
c) Aim for glucose levels between 150–230 mg/dl
d) Maintain hydration and seek urgent medical advice if the child is unable to drink
A
Answer D
Dr Bahha 2023
4
Q
Regarding the DKA from ISPAD 2022 guidelines. which is true:
a) Patient have DKA when serum bicarbonate less then 18 mmol/l
b) Infusion of initial fluid bolus(es) should be given over 1 hour
c) Begin with 0.05–0.1 U/kg/h insulin infusion with the fluid replacement therapy
d) Bicarbonate administration is not recommended except for treatment of life-threatening hyperkalemia or for severe acidosis (venous pH < 6.9).
A
Answer A
Dr Bahha 2023
5
Q
The family of diabetic patient on MiniMed 670G pump ask you
about the new pump MiniMed 780G
The different that the 780G :
a) Have automatic correction boluses
b) Have automatic basal rate adjustments
c) provide the PLGS ( predictive low glucose suspend)
d) No need calibrations
A
Answer A
Dr Bahha 2023
6
Q
Neonate presented with hyperglycemia during the 1st few days of
life with low birth weight , family hx is remarkable for the father with
asymptomatic fasting hyperglycemia & mother with gestational
diabetes , what is the likely cause of his diabetes?
A. GCK mutation
B. KCNJ11 mutation
C. INSR
d. HNF-1B
A
Answer A
Dr Bahha 2023
7
Q
5 days old boy present with seizure lab show :
The most likely the cause :
a) Hypoparathyroidism
b) Maternal vitamin d deficiency
c) Pseudohypoparathyroidism
d) High phosphate formula
A
Answer B
Dr Bahha 2023
8
Q
A 12-year-old girl presents to the outpatient clinic with a history of chronic fatigue, attention-deficit/hyperactivity disorder, irritability, and depression. She had a kidney stone 1 year ago. She takes no medications. There is no family history of calcium balance disorders. laboratory test :
Serum calcium = 11.1 mg/dL (8.5-10.0 mg/dL) (SI: 2.8 mmol/L [2.1-2.5 mmol/L])
Phosphate = 2.4 mg/dL (2.8-5.1 mg/dL) (SI: 0.8 mmol/L [0.9-1.6 mmol/L])
PTH = 73 pg/mL (15-87 pg/mL) (SI: 73 ng/L [15-87 ng/L])
25-Hydroxyvitamin D = 25 ng/mL (20.0-60.0 ng/mL) (SI: 62.5 nmol/L [49.9-149.8 nmol/L])
Urinary calcium-to-creatinine ratio = 0.217
Which of the following is the best next step to determine the etiology of her condition?
A. Order genetic testing for a pathogenic variant in the CASR gene
B. Perform parathyroid ultrasonography
C. Perform a 99Tc sestamibi scan
D. Perform DEXA one third of the distal radius
A
Answer C
Dr Bahha 2023
9
Q
Patient with chronic kidney disease on dialysis came with seizure, has
low Ca, high PO4, low 25OH D & low 1,25 OH D, what is the
management?
a) Calcitriol.
b) Vitamin D & calcitriol.
c) Vitamin D
A
Answer B
Dr Bahha 2023
10
Q
Which of the following bone resorption marker :
a) Osteocalcin
b) Osteoblasts
c) Collagen type 1 telopeptides
d) Collagen type 1 propeptides
A
Answer C
Dr Bahha 2023
11
Q
What true regarding the placental role in thyroid metabolism during
human:
a) Iodine can not cross placenta
b) T4 concentration in cord blood from neonates with complete absence of thyroid function is 30% to 50% of that of normal neonates
c) Low T4 concentrations in pregnant women commonly cause lower IQ in neonate
d) TRH can not cross placenta
A
Answer B
Dr Bahha 2023
12
Q
A 6-week-old boy presents with poor feeding and abdominal distention over 7 days. He was born full term following an uncomplicated pregnancy. He was of normal weight and length at birth.
Normal newborn screening. Before the onset of symptoms, he had been healthy since birth and had been breastfeeding and gaining weight normally. no family history of thyroid disease. O/E : his length is at the 3rd percentile, weight is at the 10th percentile, and head circumference is at the 24th percentile. P is 130, RR is 24 , and BP is 92/55 mm Hg. The infant is sleeping comfortably and wakes easily. The thyroid gland is not palpable. Findings on pulmonary examination are normal, and there is a 2/6 systolic murmur. The abdomen is distended and nontender, and a firm liver edge is palpable 5 cm below the costal margin. The spleen is not palpable. A 5-mm cutaneous hemangioma is present on the left chest.
Laboratory test results: TSH = 94.5 mIU/L (0.7-5.7 mIU/L)
Free T4 = 1.34 ng/dL (0.9-2.3 ng/dL)
Which of the following additional laboratory findings is most likely to be
present?
A. Elevated serum reverse T3
B. Low serum thyroglobulin
C. Elevated serum T3
D. Elevated serum TSH-receptor antibodies
E. Elevated urinary iodine
A
Answer A
Dr Bahha 2023
13
Q
6 months old boy with Down syndrome came for well baby clinic, he is thriving well, has normal newborn screen, what is true regarding follow up of his thyroid?
A) do the thyroid function test only if the patient symptomatic
B) do the thyroid function test once if normal repeat only if the patient symptomatic
C) do the thyroid function test annually start from age of 2 years and if the patient symptomatic
D ) do thyroid function test at 6 months , 12 months then annually and if the patient symptomatic
A
Answer D
Dr Bahha 2023
14
Q
A 14 months old boy presents with cardiogenic shock associated with
parvovirus cardiomyopathy. The toddler is started on amiodarone
secondary to developing a life-threatening cardiac arrhythmia. One week
later, he develop abnormal thyroid function tests.
TSH 15.7 mIU/L (0.5-4.5 mIU/L)
Free T4 10 (SI; 11.6-21.9 pmol/l)
Next step :
a) stop amiodarone
b) repeat the test after 2 week
c) start levothyroxine
A
Answer B
Dr Bahha 2023
15
Q
15) 14 years old girl present with grave disease on methimazole treatment lab:
FT4 : 32 pmol/L (11.7-19.8 pmol/l)
TSH : 0.01 (0.35-5 mu/l)
The family want the Radioactive Iodine therapy . What will do next :
a) Continue methimazole until normalize thyroid function test the start Radioactive Iodine therapy
b) Stop methimazole 5 days then start Radioactive Iodine therapy
c) Radioactive therapy contraindication in this patient
d) use of potassium iodide or Lugol solution, 1 week before start the Radioactive Iodine therapy
A
Answer B
Dr Bahha 2023
16
Q
16) Which of the following enzymatic activities is deficient in the fetal
adrenal cortex :
A) 17, 20 lyase
B) 3BHSD type 2
C ) 21 hydroxylase
D) Sulfotransferase
A
Answer B
Dr Bahha 2023
17
Q
6-and-6/12-year-old girl is being followed up in endocrine clinic. She has a diagnosis of classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency. She was born with ambiguous genitalia and has a family history of CAH. Her parents report that she is well with no episodes of illness necessitating increasing her hydrocortisone dosage. The patient’s regimen consists of hydrocortisone, 11.3 mg/m2 per day, and fludrocortisone, 100 mg daily. On physical examination, her height is 96.1 cm(–1.46 SDS), and weight is 13.6 kg(–1.56 SDS) (BMI = 14.7 kg/m2 [– 0.77 SDS]). Body surface area is 0.62 m2. Her height velocity is 9.6 cm/y. Her blood pressure is 94/50 mm Hg.
Which of the following is the best next step in this patient’s care?
A. Perform a pubertal examination
B. Determine bone age
C. Measure 17-hydroxyprogesterone
D. Increase the hydrocortisone dosage
E. Reduce the fludrocortisone dosage
A
Answer A
Dr Bahha 2023
18
Q
15 years old girl presented with primary amenorrhea. On examination no signs of puberty, no pubic hair, has bilateral inguinal hernia & found to
have high BP, what is the diagnosis:
A) 17 a hydroxylase def.
B) Complete androgen insensitivity
C) POR (Cytochrome P450 Oxidoreductase)
D) 11-beta-hydroxylase deficiency
A
Answer A
Dr Bahha 2023
19
Q
8 months old girl presented to ER with recurrent hx of poor feeding , vomiting & Hypoglycemia of 40 mg/dl .Growth weight on 3rd centile ,length on 75th centile Hyperpigmentation of palmar creases and knuckle ,mucous membrane of the mouth, rest of examination was normal .
Na: 140 , k: 4, urea and creatinine normal, Cortisol 50 nmol/l , aldosterone 0.8
nmol/l, ACTH 300
Which of the following true about this case :
a) Usually treated by hydrocortisone and Fludrocortisone
b) Need supraphysiological dose of hydrocortisone treatment
c) Most of this cases are short stature
d) The most common cause by MC2R
A
Answer D
Dr Bahha 2023
20
Q
2 years old girl found to have tanner 4 breast, HT was 70th centile & now 85th centile, BA is advanced 1.5 SD, what is most indicate of central Preconscious puberty?
A. Her age
B. Tanner stage
C. Ht acceleration
D. BA advancement
A
Answer B
Dr Bahha 2023
21
Q
17 years old girl presented with no pubertal development, on examination tanner stage prepuberty, bone age 12 years , labs show prepubertal FSH and LH level . what can confirm presence of hypogonadism rather than CDGP?
A) The chronological age
B) The bone age
C) The LH and FSH level
D) The tanner stage
A
Answer A
Dr Bahha 2023
22
Q
11-year-old boy presents for evaluation of breast development. His parents report that for the past several months he has had swelling under the nipples bilaterally without discharge. This has caused him significant distress and he has started wearing large sweatshirts to hide the appearance of breasts. He and his parents express a strong desire for treatment. On physical examination, the height is 154 cm (91st%) and weight is 47.1 kg (88th %).
He appears well. Examination findings are notable for 2 cm of glandular breast tissue bilaterally, Tanner stage 2 pubic hair development, and testicular volume of 6 mL bilaterally. Laboratory test results:
LH = 1.7 mIU/mL (0.03-3.70 mIU/mL [Tanner stage 2])
Total testosterone = 58 ng/dL (18-150 ng/dL [Tanner stage 2])
Estradiol = <2.5 pg/mL (5.0-16.0 pg/mL [Tanner stage 2])
liver, kidney, and thyroid function are normal. Bone age is 11 years. Midparental target height is (167.6 cm).
Which of the following is the best next step in the management of this patient’s condition?
A. Order karyotype analysis
B. Order testing for serum tumor markers
C. Prescribe an aromatase inhibitor
D. Refer to surgery for mastectomy
E. Offer reassurance and follow-up in 6 months
A
Answer E
Dr Bahha 2023
23
Q
6years 6 months -old girl is evaluated in the clinic because of a 12- month history of body odor and acne. Over the last 6 months, her mother has noticed that she has developed pubic hair and had a growth spurt. She is the child of nonconsanguineous parents. She was born full term with a birth weight of 3550 g. She has been well with no hospital admissions. Her current height is at the 75th percentile. At her last check-up, her height was at the 50th percentile. Her bone age is advanced by 1.8 years compared with her chronologic age. There is no family history of early puberty. Her mother had menarche at age 10 years. Her 4-year-old brother is prepubertal. On physical examination, breast development is Tanner stage 1, pubic hair is Tanner stage 2, and she has axillary hair development.
Which of the following diagnostic investigations should be ordered next?
A. Adrenal ultrasonography
B. LH measurement
C. Baseline 17-hydroxyprogesterone measurement
D. TSH measurement
E. Urinary steroid profile
A
Answer C
Dr Bahha 2023
24
Q
You have been caring for a boy with hypopituitarism for many years. He was born from a consanguineous marriage, and you first diagnosed him with growth hormone deficiency and central hypothyroidism when he was 4 years old. A head MRI obtained at that time revealed a “plump” pituitary gland. His optic nerves were normal. initial concerns about a pituitary adenoma, however, proved unfounded. Now at age 14, he demonstrates no signs of puberty. His testicular volume is 1-2 mL, and his bone age is equivalent to chronologic age. His serum LH and FSH concentrations are both <0.1 IU/L. You obtain a prolactin level of <1 ng/mL (<0.04 nmol/L) and an 8:00 am cortisol level of 497 MmoI/L.
Of the following, the most likely genetic defect in this boy is a mutation in:
a) FGFR1
b) POUlF1
C) PROP1
d) SF1
e) TPIT
A
Answer C
Dr Bahha 2023
25
14-year-old girl, was brought by her parents to the clinic for amenorrhea for
three months. She attained menarche at 12 years old. Her menstruation cycle had
been regular, The parents also complained that she had been dieting in the past
seven months prior to the clinic visit , clinical examination revealed a thin girl with
a body weight of 35.9 kg, height 152 cm and body mass index (BMI) of 15.5 kg/
m2, that of the following lab result expected for her ?
a) Low ghrelin
b) Low cortisol
c) Low growth hormone
d) Low T4
Answer D
Dr Bahha 2023
26
10 years old boy diagnosis with craniopharyngioma .What true regarding craniopharyngioma :
a) 90 % have diabetes insipidus
b) 25% have ACTH deficiency
c) 50% have TSH deficiency
d) 50 % have GH deficiency
Answer B
Dr Bahha 2023
27
9 years old girl with short stature found to have turner syndrome you decide to start GH treatment the FDA approval dose in turner syndrome:
a) up to 0.035 mg/kg/day
b) up to 0.040 mg/kg/day
c) up to 0.050 mg/kg/day
d) up to 0.067 mg/kg/day
Answer D
Dr Bahha 2023
28
A 4-year-old boy is diagnosed with GH deficiency. Recombinant human GH replacement therapy is started at a dosage of 0.18 mg/kg per week. Several weeks after treatment initiation, the child presents to the emergency department with hypotension and hypoglycemia. In light of the recent initiation of recombinant human GH therapy and based on current symptoms, the patient is suspected to have adrenal insufficiency. Which of the following mechanisms best explains the patient's presentation? GH-induced:
A. Inhibition of 21-hydroxylase
B. Stimulation of 11β-hydroxysteroid dehydrogenase 2
C. Inhibition of 11β-hydroxysteroid dehydrogenase 2
D. Stimulation of 11β-hydroxysteroid dehydrogenase 1
E. Inhibition of 11β-hydroxysteroid dehydrogenase 1
Answer E
Dr Bahha 2023
29
10 years old boy diagnosis with growth hormone deficiency start in Growth hormone treatment present with severe headache and vomiting diagnosis as
pseudotumor cerebri , GH stopped and patient now asymptomatic
What you will do next :
A) it is contraindication to start GH again
B) restart GH with same previous dose with close monitoring if he develop headache
C) restart GH at about one-quarter the previous starting dose, and continue the dose
D) restart GH at about one-quarter the previous starting dose, and the dose increased over several weeks to the standard starting dose without a relapse of the headaches.
answer D
Dr Bahha 2023
30
16 years old boy presents for follow-up of short stature. When reviewing his medical record, you note that he was seen for an initial consultation at age 15 years, At that time, his height was 148 cm (<3rd percentile - 2.6 SD) and weight was 40 kg (<3rd percentile: -2.1 SD). His father's height is 172 cm(30th percentile, —0.5 SD), and his mother's 160 cm (33rd percentile, -0.4 SD). He was born at term; normal birth weight and birth length. Results of initial laboratory workup at age 15 years were normal except for a low IGF-1 40 ng/mL and an IGFBP-3 less than 0.5 mg/L. GH-stimulation stimulation test peak of 11 ng/mL. His bone age was 12 and 6/12 years at a chronologic age of 15 years. GH therapy was started 6 months ago for as idiopathic short stature. His GV was 6 cm/y, and since starting GH therapy, it has decreased to 5 cm/y. His current height is 152 cm(<3rd percentile; -2.7 SD) and weight is 44 kg (<3rd percentile: -2.2 SD). His pubic hair and genitalia are Tanner stage 2 today. His IGF-1 continues to be low at 60 ng/ml (reference range, 201-648 for Tanner stage 2 males) despite GH therapy for 6 months.
Which of the following is this patient's most likely diagnosis?
A. Constitutional delay of growth and puberty
B. Complete GH insensitivity due to a pathologic variant in the GH receptor gene (GHR)
C. IGF-1 deficiency due to a pathogenic variant in the IGF-1 gene (IGF1)
D. IGF-1 instability due to a pathogenic variant in the acid-labile subunit gene (IGFALS)
Answer D
Dr Bahha 2023
31
an obese 15-year-old male presents to your clinic a complaint of delayed puberty. Past medical history is significant for a renal malformation, mild mental retardation, polydactyly, and progressive loss of vision secondary to retinitis pigmentosa.
Which is the most likely diagnosis?
a) Bardet-biedl syndrome
b) Alstrom syndrome
c) Prader-Willi syndrome
d) cohen syndrome
Answer A
Dr Bahha 2023
32
A 3-year-old girt presents with rapidly progressing breast development and multiple irregular cafe-au-gait macules. A bone scan confirms your suspicion that she has McCune-Albright syndrome.
What other biochemical abnormality is she at risk for?
a) Growth hormone deficiency
b) Hypoproiactinemia
c) Hypophosphatemia
d) Hypocortisolism
Answer C
Dr Bahha 2023
33
10-year-old girl is referred to you for evaluation of osteoporosis. The parents report that she fractured her forearm recently with minimal trauma. The pediatrician performed a DXA scan, which revealed a bone mineral density Z score of –2.5. In addition, he ordered measurements of bonespecific alkaline phosphatase (BSAP), osteocalcin, and N-terminal crosslinked telopeptide of type I collagen (NTX). The results are still pending. On physical examination, you note tachycardia, mild tremor, and a goiter. What would you predict the results of her bone turnover markers to be? CHOOSE ONE
A. ↑ BSAP, ↑ osteocalcin, ↑ NTX
B. ↑ BSAP, ↑ osteocalcin, ↓ NTX
C. ↑ BSAP, ↓ osteocalcin, ↑ NTX
D. ↓ BSAP, ↓ osteocalcin, ↓ NTX
E. ↓ BSAP, ↓ osteocalcin, ↑ NTX
Answer A
Dr Areej 2023
34
A 5-year-old child being treated for medulloblastoma with chemotherapy (vincristine, cisplatin, and cyclophosphamide)and cranial irradiation is referred to you for hypocalcemia detected on routine laboratory testing. Review of systems shows occasional muscle spasms. Physical examination reveals weight and height to be at the 3rd percentiles for age. Her examination findings are otherwise unremarkable. Your laboratory evaluation reveals a serum calcium of 8.0 mg/dL (2 mmol/L), phosphorus of 6.0 mg/dL (1.9 mmol/L), PTH of 98 pg/mL (98 ng/L), 25- hydroxyvitamin D of 18 ng/dL (44.9 nmol/L), and a 1,25-dihydroxyvitamin D of 92 pg/mL (239.2 pmol/L). The rest of her comprehensive metabolic panel is within normal limits.
Of the following, the MOST probable cause for this girl's hypocalcemia is
A.autosomal dominant hypocalcemia
B.magnesium deficiency
C.Pseudohypoparathyroidism
D.vitamin D deficiency
Answer B
Dr Areej 2023
35
A 6-day-old male neonate born at term weighing 5 lb 15 oz (2700 g) develops poor feeding and lethargy. He is taken to the emergency department and is found to be dehydrated. His parents report that he has continued to have wet diapers. The blood glucose concentration is 488 mg/dL (27.1 mmol/L). There is no ketosis, and the serum bicarbonate concentration is 22 mEq/L (22 mmol/L) (reference range: 21-28 mEq/L [21-28 mmol/L]). The physical examination findings are notable for paucity of subcutaneous fat, a large tongue, and an umbilical hernia. Which one of the following laboratory studies is most likely to confirm this child's diagnosis? CHOOSE ONE
A. DNA methylation analysis of chromosomal region 11p15
B. Confirmation of paternal uniparental disomy in the chromosomal region 6q24
C. Direct DNA sequencing of the ABCC8 and KCNJ11 genes
D. Radioimmunoassay for glutamic acid decarboxylase antibodies
E. Genetic testing for mutations in the gene encoding the insulin receptor (INSR)
Answer B
Dr Areej 2023
36
A 4-year-old girl is referred by her day care nurse. The nurse examined her oropharynx after the girl complained of a sore throat. The girl has been otherwise healthy and asymptomatic, and she is growing normally. The examination findings are shown in figure 1. Biochemical testing and an imaging study (figure 2) are ordered.
Of the following, the panel of test results that would be MOST likely in this girl is
Answer A
Dr Areej 2023
37
A 7-year-old girl presents with a 9-month history of acne and pubic hair growth and a 6-month history of clitoral enlargement. Her voice has deepened, and growth has accelerated from the 75th percentile to the 95th percentile in 1 year. On physical examination, you confirm that she has severe facial and back acne, clitoromegaly, and a very deep voice. Her vital signs are normal. Laboratory test results:
17-Hydroxyprogesterone = 140 ng/dL (4.2 nmol/L) (reference range
17-Hydroxypregnenolone = 210 ng/dL (6.3 nmol/L) (reference range: 10-186 ng/dL [0.3-5.6 nmol/L]) DHEA = 0.72 ng/mL (2.50 nmol/L) (reference range: 0.20-2.75 ng/mL [0.69- 9.54 nmol/L])
Androstenedione = 34 ng/dL (1.2 nmol/L) (reference range: 8-50 ng/dL [0.3- 1.7 nmol/L])
DHEA-S = 754 μg/dL (20.4 μmol/L) (reference range: 13-115 μg/dL [0.4-3.1 μmol/L]
Total testosterone = 350 ng/dL (12.1 nmol/L)
Bone age is interpreted to be 10 years.
Which one of the following is the most likely diagnosis? CHOOSE ONE
A. Nonclassic 21-hydroxlyase deficiency
B. 3β-Hydroxysteroid dehydrogenase deficiency
C. Adrenal adenoma or carcinoma
D. 5α-Reductase deficiency E.
Neuroblastoma
Answer C
Dr Areej 2023
38
A pediatrician calls to review the growth pattern and bone age radiograph of an 11- year-old girl he recently saw. He reports she had linear growth along the −2.2 height standard deviation score (SDS) from 4 to 10 years of age, but her height measured at the −2.5 SDS at last week's office visit. Her weight has been consistently near −1.8 SDS and her BMI SDS has been close to 0. The child's mother and father are 157.5 cm (62 in) and 170.2 cm (67 in) tall, respectively. The girl is prepubertal. The pediatrician reports she is fairly healthy, does not take any medications, and is an average student. As part of the pediatrician's initial evaluation, a bone age radiograph was obtained (Figure) Of the following genes, the one that is most likely to explain her growth pattern is
A.GNAS1
B.IGF1
C.PTPN11
D.SHOX
answer D
Dr Areej 2023
39
Homozygous SHOX deficiency cause :
A. Langer mesomelic dysplasia
B. Leri-weill dyschondrosteosis.
C. Idiopathic short stature.
D. Turner Syndrome.
Answer A
Dr Areej 2023
40
In turner syndrome ,the autoimmune diseases most common found in which karyotype:
A.Xp DELETION.
B.Xq DELETION.
C.isoXq.
D.Ring x chromosome.
Answer C
Dr Areej 2023
41
You are evaluating a 16-year-old adolescent girl for primary amenorrhea. She is obese (93.8kg, BMI 33.8 kg/m2) and is Tanner stage 4 for breast development and Tanner stage 5 for pubic hair. You note that she has a relatively deep voice. She has abdominal obesity, acanthosis nigricans, profound acne and significant hirsutism (Ferriman-Gallwey score of 22). Her laboratory evaluation revealed negative pregnancy testing and the following: Fasting glucose, 98 mg/dL, HbA1C 5.6%, Prolactin, 15.7 ng/mL, Fasting insulin, 120 mIU/L LH, 9 mIU/mL(N), FSH, 4.3 mIU/Ml(N), TSH, 4.3 mIU/L, Serum total testosterone, 110 ng/Dl(H) Free testosterone, 24 pg/Ml(H), Sex hormone-binding globulin (SHBG), 0.4 µg/dL 17-OHP, 350 ng/Dl(H), 17-hydroxypregnenolone, 310 ng/Dl(N), DHEA-S, 250 µg/Dl(N) Pelvic ultrasonography revealed a pubertal uterus with a right ovarian volume of 12 mL and a left ovarian volume of 11 mL. Of the following, the MOST likely diagnosis is
A. cortisone reductase deficiency
B. nonclassical CAH
C. polycystic ovary syndrome
D. virilizing adrenal tumor
Answer B
Dr Areej 2023
42
5-year-old boy returns to your clinic for hospital follow-up. He was diagnosed with a craniopharyngioma 2 months ago after presenting with headaches and vomiting. After surgical resection of the tumor, he developed panhypopituitarism and diabetes insipidus. He was started on hormone replacement therapy in the hospital including desmopressin, levothyroxine, and physiologic hydrocortisone. His mother is very concerned about his appetite and weight. He has gained about 10 lbs since surgery and his appetite is extremely high. She thinks that if he were allowed to eat adlib that he would take in double the amount of calories each day that he consumed pretreatment. In this patient, disrupted signaling of which of the following hormones is the MOST likely cause of the appetite and weight changes?
A. Agouti-related peptide
B. α-melanocyte stimulating hormone
C. neuropeptide Y
D. thyrotropin
Answer B
Dr areej 2023
43
You are seeing a 2-year-old girl in the office who has congenital adrenal hyperplasia (CAH) caused by 21hydroxylase deficiency and has recently had genitoplasty. The mother of the patient has just learned that she is pregnant with her second child and is concerned about the risk of CAH to the fetus and wants to learn about possible prenatal treatment options. Of the following, the BEST reason for using dexamethasone therapy in the pregnant mother is that
A. data on safety and efficacy of prenatal glucocorticoid therapy are fairly well established, and treatment of mothers with at-risk fetuses should be routine
B. Five percent of affected female infants who have been optimally treated prenatally with corticosteroids have significant masculinization
C. initiation of therapy as late as 10 weeks gestation is associated with a good response of fetal genital anatomy
D. neither hydrocortisone nor prednisone cross into fetal circulation well due to inactivation by the placenta
E. Only one out of 4 fetuses receiving prenatal treatment with glucocorticoids stems will be treated unnecessarily
Answer D
Dr Areej 2023
44
A 12-year-old white boy was diagnosed with GH deficiency 2 years ago when he was found to have low IGF-1 and IGFBP-3 during an evaluation for short stature. Two-agent GH stimulation testing resulted in a peak GH level of 4 ng/mL. His TSH and free T4 levels were normal. He was subsequently started on treatment with recombinant human GH at a dose of 0.3 mg/kg per week. His growth chart is shown in the Figure. He takes intranasal fluticasone once a day as needed to control his seasonal allergies. His recent physical examination was normal, with Tanner II pubic hair and 4 mL testes. Of the following, the test that is MOST likely to explain his growth pattern is
A. AM cortisol
B. serum prolactin
C. serum T4
D. testosterone
Answer c
Dr Areej 2023
45
A 1-week-old newborn with persistent hypoglycemia requires an endocrinology consult. The baby was born to a primigravida mother with good prenatal care. The infant was born at term with a birth weight of 4.5 kg. The birth was uneventful, and the baby had Apgar scores of 9 at both 1 minute and 5 minutes. Since birth, the infant has had hypoglycemia, with plasma glucose levels of 20 to 30 mg/dL (1.1-1.7 mmol/L) requiring IV 10% dextrose infusion with a glucose infusion rate of 11 mg/kg/min. On examination, macroglossia and bilateral ear pits are evident.
Of the following, the MOST likely abnormality of chromosome 11p in this infant is
A.maternal uniparental disomy with biallelic expression of IGF2
B.maternal uniparental disomy with mutation in the KATP channel
C.paternal uniparental disomy with biallelic expression of IGF2
D.paternal uniparental disomy with mutation in the KATP channel
Answer C
Dr Areej 2023
46
You are asked to see an almost 5-year-old boy for a second opinion for concerns of tall stature. A bone age radiograph was read as 8 years at a chronologic age of 4 years. Testing revealed a mutation in the nuclear receptor-binding SET domain protein 1 (NSD1) gene. On examination, his height (+3.5 standard deviation score [SDS]) and weight (+2.9 SDS) are both at greater than the 95th percentile for age. Physical examination findings include a long face, high and broad forehead, downslanting palpebral fissures, prominent jaw, large hands, and large feet. He is at Tanner stage I. Family history is not known because the patient is adopted.
Of the following, in counseling the parents, you inform them that their son will MOST likely have
A.deficits in language and mathematics
B.delayed puberty and infertility
C.elevated GH and IGF-1 levels
D.short stature as an adult
Answer A
Dr Areej 2023
47
A 13-year-old female adolescent is referred by her orthopedic surgeon. She has been experiencing a “popping” of her fourth left metacarpophalangeal joint when she tries to play her guitar. She has a history of subcutaneous nodules noted on her legs and abdomen during infancy. Currently, her height is at the 10th percentile; weight is at the 60th percentile. Breast and pubic hair development are Tanner III and IV, respectively. She has a round face, and her fingers appear relatively short. She has several cutaneous nodules on her abdomen and thighs. Her thyroid examination result is normal. Laboratory evaluation reveals the following values:
Laboratory Test Result
Calcium 5.4 mg/dL (1.35 mmol/L)
Phosphate 9.1 mg/dL (2.94 mmol/L)
25-OH vitamin D 16.4 ng/mL (40.9 nmol/L)
Of the following, the MOST important treatment goal for this patient is
A.serum calcium level of 8.0 to 8.5 mg/dL (2.0-2.12 mmol/L)
B.serum 25-OH vitamin D concentration above 30 ng/mL (> 74.9 nmol/L)
C.serum PTH level less than 100 pg/mL (< 100 ng/L)
D.urinary calcium to creatinine ratio below 0.22
Answer C
Dr Areej 2023
48
You are evaluating a 9-year-old girl for hypercholesterolemia and xanthoma. She was found to have small bumps on her joints and heel at age 3 years, which have been enlarging. She was initially sent to a dermatologist and a biopsy revealed foamy histiocytes consistent with xanthomata. Physical examination is significant for xanthomata on the extensor aspect of the tendons of her hands and her achilles tendon .There is no corneal arcus or xanthelasma. The remainder of the examination yields normal findings.
A fasting lipid profile reveals the following values: Laboratory Test Result Total cholesterol 676 mg/dL (17.5 mmol/L) LDL-C 485 mg/dL (15.1 mmol/L) Triglycerides 80 mg/dL (0.9 mmol/L) HDL-C 40 mg/dL (1.0 mmol/L)
The girl has a strong family history of hypercholesterolemia and premature cardiovascular disease. Her father had coronary heart disease at 34 years of age and was treated with atorvastatin. Her mother is 35 years old, and her cholesterol levels have not been measured. The girl's maternal aunt has hypercholesterolemia, and had a myocardial infarction and stent placement at age 42 years. The maternal grandmother died suddenly at 45 years of age, but no further details are known. The girl's father is adopted, and his family history is unknown.
Of the following, the condition MOST likely to be found in this patient is
A.LDL receptor mutation
B.loss-of-function mutation of PCSK9
C.underproduction of apoB-100
D.underproduction of lipoprotein (a)
Answer A
Dr Areej 2023
49
17-year-old obese girl is referred to an endocrinologist because of concerns of diabetes mellitus. Her history reveals that she has been obese since early childhood and has a long history of polyuria and polydipsia. She also complains of primary amenorrhea. The family is from the Middle East, and her parents are distant cousins. There is no family history of diabetes mellitus. Her physical findings reveal a height at the 25th percentile and weight above the 99th percentile, with a BMI of 32 kg/m2. There is no acanthosis nigricans. Vital signs are normal. She is at Tanner stage II for breast development and stage IV for pubic hair development.The rest of her physical findings are unremarkable. Laboratory testing reveals a fasting blood glucose level of 250 mg/dL, an insulin concentration of 5 µIU/mL (34.7 pmol/L), HbA1c of 12%, and a proinsulin concentration of 14.0 µIU/mL (97 pmol/L; reference range, 0.43-2.9 µIU/mL [3-20 pmol/L]).
Of the following, the MOST likely result of further laboratory evaluation will be
A.elevated gonadotropin levels
B.high levels of vasopressin
C.low TSH and elevated T4 concentrations
D.subnormal response to low-dose cosyntropin
Answer C
Dr Areej 2023
50
An 18-year-old underweight female patient receives ghrelin as part of a clinical trial evaluating the role of ghrelin on appetite in female teenagers with body mass index lower than the 5th percentile. An increased appetite was noted on the second day of ghrelin therapy.
Of the following, the MOST likely mechanism for her increased appetite is
A.Augmentation of leptin secretion
B.augmentation of neuropeptide Y release
C.inhibition of growth hormone release
D.inhibition of insulin secretion
Answer B
Dr Areej 2023
51
Regarding newly diagnosed diabetes ,the true statement is
A. antibodies can be detected only up on diagnosis.
B. Insulin autoantibodies (IAAs) are often the first diabetes autoantibody detected, but it's prevalence is lower than that of the other autoantibodies.
C. risk of developing diabetes within 5 years greater than 50% in those with two autoantibodies.
D. zinc transporter, ZnT8, appears to be a major marker for progressive impairment of beta-cell function
Answer B
Dr Areej 2023
52
All about MODY syndrome are true except
A. Dominant inheritance with at least two (and preferably three) consecutive affected generations
B. Two thirds 65% are MODY 3 (HNF1a) ,10% are MODY 2 (glucokinase defect).
C. Renal cysts or other reno-pelvic anomalies may occur in MODY 5 (HNF1b).
D. Heterozygous mutations in glucokinase have been associated with congenital diabetes.
E. gain-of-function mutations in glucokinase cause persistent hyperinsulinemic hypo glycemia of infancy.
answer D
Dr Areej 2023
53
All are treatment option matching its disease except ;
A. Permanent neonatal diabetes respond to Up to 90% of patients with mutations involving Kir 6.2 and SUR1 respond to sulfonylureas; the remainder are usually insulin dependent
B. Cystic fibrosis-related diabetes respond to Glinides with meals; small dose long-acting insulin once daily; short-acting insulin with meals.
C. MODY1 and MODY3 respond to Sulfonylurea initially, but may eventually need insulin therapy
D. Lipoatrophic diabetes respond to insulin
answer D
Dr Areej 2023
54
The false statement regarding Walcott Rallison Syndrome ,WRS, is
A. majority of these WRS patients die from fulminant hepatitis during childhood
B. patients usually have multiple epiphyseal dysplasia , osteopenia, intellectual disability
C. It is a rare, autosomal recessive disorder with late infancy onset of hyperisulinism
D. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the pancreatic eukaryotic translation initiation factor 2-alpha kinase 3
Answer C
Dr Areej 2023
55
Regarding Thyroid Transcription Factors mutations, which gene mutation does not match its common presentation ;
A.GLIS 3 mutation mainly presented with Congenital glaucoma, Deafness ,Liver, kidney, and pancreas abnormalities
B. PAX - 8 mutation present mainly with Cysts within thyroid remnants which formed by c – cells
C. TTF - 1 mainly present with cleft palate ,choanal atresia ,kinky hair and bifid epiglottis .
D.FOXE - 1 result in absent thyroid or ectopic sublingual gland
answer C
Dr Areej 2023
56
TART can be differentiated from malignant Leydig cell tumer
A. Bilateral in 8 % of the cases
B. Rienk crystal can be found in 40% of TART
C. Malignant degeneration is seen in 10% of TART
D. Bilateral in more than 80% of the cases
answer D
Dr Areej 2023
57
A 13 year old girl referred to you as case of poorly control DM for the last 7 years requiring total daily dose of 3 unit /kg , HbA1c 12.5% although she is compliant on diabetic diet ,2nd child of 1st degree consanguineous parents. FT , BWT of 1.8 kg, developmentally normal ,Her elder sister died at the age of 21 years due to hypotension during renal dialysis session .
On examination Ht 129.7 cm, wt 22.1 kg (both were below the 3rd percentile ). Dental dysplasia ,severe acanthosis nigricans on the back of her neck and in the axillae , abdomen protruberant no hepatomegaly, loss of subcutaneous fat on her buttocks, excessive body hair. clitoromegaly Tanner stage B,P 4 ,
LAB :C-peptide 2.5 ng/ml Testosterone level 0.9 nmo/l, TG 80 mg/dl , cholestrol 100 mg/dl
The most likely cause for her poorly control DM is
A- Berardinell seips syndrome
B- Type B insulin resistant
C- Rabson mendehaill syndrome
D- Type A insulin resistant
The Best treatment option is to give
A- Thaiazolidinediones
B- leptin
C- immune suppressive therapy
D- metformin ,oral contraceptive
Answer C , Answer B
Dr Areej 2023
58
The only syndrome associated with postnatal growth and mental retardation IS:
A- Russile silver syndrome
B- Turner syndrome
C- Progeria
D- seckle headbired syndrome
Answer D
Dr Areej 2023
59
4wks old female infant presented to ER with dehydration , hyponatremia and hyperkalemia ,metabolic acidosis,normal female genital , the most informative lab would be :
A- 17hyrdoxyprogesterone
B- DAX-1
C- Cortisol
D- Aldosterone
Answer D
Dr Areej 2023
60
An obese diabetic adolescent , blind and deaf and with dilated cardiomyopathy , the most likely diagnosis :
A-Prader –willi syndrome
B- Alstrom syndrome
C- Carpenter syndrome
D-Bardet- Biedal syndrome
Answer B
Dr Areej 2023
61
7 yrs old girl with hx of cylic menstrual bleeding started 4 months ago ,Us pelvis showed bilateral ovarian cyst Rt 10cmx5 cm ,lt 2 x1.5 cm .Exam Ht <3rd centile ,wt on 75th centile ,Tanner Stage B III ,P II , genitlia normal Rest of physical exam normal ,X-ray bone age 5 yrs.
The most important single investigation
A- TSH
B- FSH,LH
C- Estradiol
D- Prolactin
Answer A
Dr Areej 2023
62
A 12-year-old boy presented to the endocrine clinic with hx of polydipsia and polyuria for 6 months. He was known to have Type 1 diabetes (diagnosed at age 5 years) and developed severe visual impairment at age 10 years.Lab showed normal FBC, renal function, bone profile , HbA1c 7%. You did Water deprivation test (at 6 hours): serum osmolality 300 mOsmol/Kg urine osmolality 220 mOsmol/Kg urine osmolality 830 mOsmol/Kg after DDAVP injection
Which one of the following is the likely inheritance pattern of his underlying condition?
A. Autosomal dominant
B. Autosomal recessive
C. Mitochondrial disease
D. X-linked
Answer B , Wolframe syndrome
Dr Areej
63
26-year-old man with of type 1 DM is keen to know the risk of his off spring developing diabetes. His wife does not have diabetes or pre-diabetes.
What is the risk of his offspring is
A. <1%
B. 1–2%
C. 3–5%
D. 20%
Answer C
Dr Areej 2023
64
You are asked to evaluate a 4-day-old male newborn for hypoglycemia. He was born at term with a birth weight of 3,245 g. He is noted to have scleral icterus, nystagmus, mild jaundice to the level of the nipples, and a stretched penile length of 1.8 cm with normal urethral position and testes palpable high in the scrotum. Laboratory evaluation is significant for a serum glucose of 36 mg/dL) 2 mmol/L(
Of the following, the finding that would be expected in the diagnostic evaluation for this patient is
A.abnormal acylcarnitine profile
B.elevated lactate
C.elevated transaminases
D.increased glucose in response to glucagon
Answer C
Dr Areej 2023
65
You are asked to see a 13-year-old boy for tall stature (Figure ). He has Tanner stage II pubic hair and 8-mL testes. He has an IGF-I level of 1,648 ng/mL (216 nmol/L).
Of the following, the BEST first-line therapy for the etiology of his tall stature is
A.pegvisomant
B.somatostatin receptor ligand
C.stereotactic radiation
D.transphenoidal surgery
Answer D
Dr Areej 2023
66
A 17-year-old boy presents with concerns about lipid abnormalities. His LDL-cholesterol 225 mg/dL (5.83mmol/L). His paternal grandfather and paternal uncle died early of cardiovascular disease. Treatment is initiated with atorvastatin, 10 mg daily, which lowers the patient's LDL-cholesterol to 140 mg/dL (3.63 mmol/L) over a 6-month period. His mother calls this morning because he is experiencing mild discomfort in his calves. Yesterday he had soccer tryouts, during which he was physically active. Laboratory test results: Creatine kinase = 198 U/L (15-105 U/L) ALT = 54 U/L (<55 U/L) AST = 34 U/L (<35 U/L) Creatinine = 0.7 mg/dL (0.5-1.0 mg/dL) Atorvastatin is continued and his symptoms resolve. One month later, he returns with new pain in his calves. He just started soccer 1 week ago. Results of repeated laboratory tests: Creatine kinase = 250 U/L ALT = 55 U/L AST = 28 U/L Creatinine = 0.7
Bearing in mind current recommendations regarding statin treatment in children, which of the following is the best next step?
A. Continue atorvastatin and measure creatine kinase in 2 days
B. Stop atorvastatin; wait 2 weeks and then reintroduce atorvastatin and assess for symptoms
C. Stop atorvastatin and pursue nonstatin cholesterol treatment
D. Admit him to the hospital for observation and treatment of muscle damage E. Order MRI of his legs
Answer B
Dr Nabilah 2023
67
You are evaluating an 8-and-2/12-year-old boy for signs of early pubertal development. He has a history of medulloblastoma diagnosed at age 6 years and was treated with cranial radiation to the hypothalamic-pituitary area. He received a total of 20 Gy of radiation therapy. Before the tumor was diagnosed, his linear growth had been steadily progressing along the 25th percentile. At his 8-year well-child check, his pediatrician noted evidence of testicular and penile enlargement and referred him to you for evaluation. His medical history and family history are noncontributory. On physical examination, his height is 49.6 in (126 cm), at the 25th percentile (SDS, – 0.65). His weight is 58.5 lb (26.6 kg), at the 8th percentile (SDS,–1.35). His arm span is 50 in (127 cm). Vital signs are normal. He has no dysmorphic features. His thyroid gland is not enlarged. Findings on neurologic examination are grossly intact. Pubic hair is early Tanner stage 2. Testicular volume is 6 mL bilaterally, and his stretched penile length is 10 cm (mean penile length for 8- to 9-year-old boys is 6.3 cm). The rest of the physical examination findings are unremarkable. Bone age is interpreted to be 10 years and 0 months at the chronologic age of 8 years and 2 months according to the Greulich and Pyle method.
Laboratory test results: Testosterone (8 AM) (by liquid chromatography/tandem mass spectrometry = 121 ng/dL Tanner stage 2: 18-150 ng/dL [SI: 0.6-5.2 nmol/L]) LH (ultrasensitive) = 1.5 mIU/mL Tanner stage 2: 0.2-4.9 mIU/mL [SI: 0.2-4.9 IU/L]) IGF-1 = 125 ng/mL (7- to 8-year-old males: 113-261 ng/mL [SI:14.8-34.2 nmol/L Cortisol (8 AM) = 9 μg/dL (7-25 μg/dL) (SI: 248.3 nmol/L [193.1-689.7 nmol/L])
Which of the following is the best next step in this patient's evaluation?
A. GnRH-stimulation test
B. Low-dose cosyntropin-stimulation test
C. GH-stimulation test
D. Brain MRI with and without contrast
E. Testicular ultrasonography
Answer C
Dr Nabilah 2023
68
A 14-year-old boy with Klinefelter syndrome diagnosed by amniocentesis presents for evaluation. He is a freshman in a therapeutic day school. He has attention-deficit/hyperactivity disorder and aggressive behaviors. He has regular follow-up visits with his psychiatrist. He is not yet shaving. On physical examination, his blood pressure is 115/74 mmHg and his pulse rate is 74 beats/min. His height is 71 in (180.3 cm) (>95th percentile), and weight is 194 lb (88.2 kg) (99th percentile) (BMI = 27.1 kg/m2). He is tall with long legs. He has cystic acne and a few facial hairs. His genitals are Tanner stage 5, pubic hair is Tanner stage 4, and testicular volume is 4 mL bilaterally.
Which of the following are the most likely expected laboratory findings for this boy?
Answer D
Dr Nabilah 2023
69
A 2-year-old boy with achondroplasia is referred to you by his primary care physician at the request of his parents for possible management of short stature. The patient was born via cesarean at 38 weeks' gestation with a BWT of 2730 g and a birth length of 47.5 cm. The pregnancy was uneventful. The patient's father has achondroplasia and has the typical features of this condition. His father's height is 138 cm (–5.26 SD). His mother is healthy, and her height is 152 cm (–1.73 SD). Physical examination reveals dysmorphic features consistent with achondroplasia, including short stature, macrocephaly, prominent forehead, midface hypoplasia, and short extremities. His height is 79 cm (–2.35 SDS), and weight is 12 kg (–0.51 SDS). His arm span is 73 cm, and head circumference is 50.8 cm (+2.5 SDS). Laboratory tests show normal results. The parents inquire about potential therapeutic interventions for the management of theirson's short stature to avoid thefather's final height outcome, and they are eager to participate in a clinical study, if necessary. Which of the following pharmacologic interventions appears promising for this condition?
A. Recombinant human IGF-1
B. C-type natriuretic peptide analogue
C. GnRH analogues
D. Recombinant human GH
E. Aromatase inhibitors
Answer B
Dr Nabilah 2023
70
Setmelanotide is an anti-obesity medication approved by FDA for specific diseases which one not include :
A. POMC
B. PSCK1
C. LEPR
D. MC4R
Answer D
Dr Nabilah 2023
71
• A 10-year-old girl presents for a follow-up of Turner syndrome, She has no history of atypical genitalia, developmental delay, or hypothyroidism. Her height gradually drifted down from the 25th percentile to below the 5th percentile at age 7 years, at which point she started GH therapy with good results. Her midparental target height is 64 in (162.5 cm) (~40th percentile).
• At today's appointment, her examination findings are notable for Tanner stage 3 breast development. Her height is at the 15th percentile, and her bone age is consistent with chronologic age.
• She is doing well in school and has no headaches, vision problems, fatigue, constipation, abdominal pain, or cold intolerance.
Based on her clinical presentation, which of the following is this patient's most likely karyotype?
A. 45,X monosomy
B. 45,X/46,XX mosaicism
C. 45,X/46,XY mosaicism
D. Ring chromosome X (46,X,r[X])
E. Xq deletion (46,XX,del[q24])
Answer B
Dr Nabilah 2023
72
An 11-and-3/12-year-old girl was diagnosed with Graves disease 6 weeks ago. She had a moderately diffuse goiter, a fine tremor, and the following laboratory test results:
TSH = <0.03 mIU/L
Total T4 = 14.1μg/dL (4.5-12.5μg/dL)
Total T3 = 345 ng/dL (84-179 ng/dL)
Thyroid-stimulating immunoglobulin = 480% (<140%)
At diagnosis, her weight was 32.8 kg. Methimazole, 7.5 mg twice daily, and propranolol were prescribed. Propranolol was stopped less than 3 weeks later because her pulse rate was 96 beats/min.
Six weeks after starting methimazole, the patient comes for a follow-up visit. On physical examination today, her pulse rate is 84 beats/min. Goiter is unchanged and there is no tremor. Laboratory test results:
TSH = <0.03 mIU/L
Total T4 = 7.2μg/dL (SI: 92.7 nmol/L)
Total T3, pending
Complete blood cell count with differential, normal Liver enzymes, normal
Which of the following is the best next step in this patient's management?
A. Wait for the result of the T3 measurement before adjusting the methimazole dosage
B. Ask the laboratory to assess T3 uptake on the sample from that day
C. Reduce the methimazole dosage to 10 mg once daily
D. Measure thyroid-stimulating immunoglobulin again
E. Increase the methimazole dosage to 10 mg twice daily
Answer A
Dr Nabilah 2023
73
A 1-year-old girl presents to clinic as a new patient regarding concern for excess weight gain. Her mother states that the patient was born full term after an uncomplicated pregnancy. Birth weight was 6 lb 6 oz (3000 g). Review of her growth charts demonstrates that her weight was already greater than the 97th percentile by 2 months of age and that it has continued to increase significantly over time. Her length has plotted consistently just above the 97th
percentile since early infancy. On physical examination, you observe a tall-for-age toddler with no obvious dysmorphic features. According to her mother, she always seems hungry and this has been true since she was a young infant. Developmental milestones have all been met appropriately thus far. She has generally been in good health with no history of frequent infections. Her mother comments that she herself has struggled with her weight all of her life and underwent sleeve gastrectomy in the past. There is a strong family history of significant obesity in multiple family members spanning generations. Given the clinical phenotype, genetic testing is being considered. Which of the following is the most likely genetic finding?
A. Pathogenic variant in the BBS1 gene
B. Pathogenic variant in the LEP gene
C. Deletion in 15q11.2-q13 region on the paternal chromosome
D. Pathogenic variant in the MC4R gene
E. Pathogenic variants in the ALMS1 gene
Answer D
Dr Nabilah 2023
74
A 6-week-old male infant presents with recent-onset jaundice. On physical examination, he is found to have hemangiomas on his skin and an enlarged liver. Newborn screening results were normal, but his current TSH concentration is 42 mIU/L (0.35-5.0 mIU/L). On physical examination, his weight at 50th percentile and length at 25th percentile. He has a normal heart rate of 140 beats/min with low blood pressure for age (76/33 mm Hg). He has mild jaundice. On skin examination, there is a 3- to 4-second capillary refill and 3 hemangiomas on his trunk (the largest is 2 cm). Findings on heart examination are remarkable for a 2-3/6 systolic murmur radiating to the axilla. Abdominal ultrasonography confirms an enlarged liver. He has multiple well-circumscribed lesions throughout the liver, predominantly hypoechoic, measuring up to 3.2 cm in diameter. Doppler ultrasonography reveals internal vascular flow. The lesions are compatible with multiple hepatic hemangiomas. Echocardiography documents an enlarged heart with systolic dysfunction and mitral valve failure. Another TSH measurement is 38.2 mIU/L (0.35-5.0 mIU/L). Which of the following additional findings are likely in this infant?
Answer C
Dr Nabilah 2023
75
13 years old boy known CAH on HC 10 mg BID poor compliance plan to change to dexamethasone once daily, what is the recommended dose?
A. 0.25 mg
B. 0.75 mg
C. 1 mg
D. 2 mg
Answer B
Dr Nabilah 2023
76
Patient with lipoid CAH during pregnancy the mother lab will be:
A. low estradiol
B. Hi DEAHS
C. low hCG
D. High alfa fetoprotien
Answer C
Low unconjugated estriol
Low hCG
Low AFP
Low DHEAS
Dr Nabilah 2023
77
8 years old girl known as DM want your insulin pump advice what is the best recommendation:
A. minimed780 with libre 2
B. Minimed 780 with Dexcom G6
C. T2-slim with dexcom G6
D. T2-slim with guardian
E. Omnipod dash with libre 2
Answer C
Dr Nabilah 2023
78
Patient on freestyle 2 libre report 25% in the target what next :
A. Not much informative data
B. Increase basal 5 %
C. Take more history about thepatient's habits and diet
D. Increase the morning dose of bolus
Answer C
Dr Nabilah 2023
79
16-and-5/12-year-old boy with GH deficiency on recombinant human GH (rhGH) since age 6 years when GH deficiency was diagnosed via an arginine-insulin tolerance test, with a peak GH value of 6.2 ng/mL (6.2 µg/L) 30 minutes after insulin administration. Cortisol was normal.
• At that time, his height was below the 3rd percentile (–2.5 SDS). Low IGF-1 concentration of 26 ng/mL (3.4 nmol/L) (IGF-1 Z-score, –2.16) with low IGFBP-3. other investigation were normal. Bone age was 1 year behind his chronologic age. Brain MRI showed a small anterior pituitary gland. The posterior pituitary bright spot was in the normal location, and the pituitary stalk was normal.
• His current height is 66.1 in (168 cm) (19th percentile; height SDS, –0.85) and is within his midparental height range. At a visit 6 months earlier, his height was 65.8 in (167.2 cm), rendering a height velocity of 1.6 cm/y. Pubic hair and genitalia are Tanner stage 5, and testicular volume is 20 mL.
• His current GH dosage represents 0.23 mg/kg weekly.
• Current laboratory test results:
• IGF-1 = 360 ng/mL (180-501 ng/mL)
TSH = 3.7 mIU/L (0.5-4.8 mIU/L)
Free T4 = 15.4 pmol/L [12.0-20.6 pmol/L]
Which of the following is the most appropriate next step in this patient's management?
A. Decrease the GH dosage to the adult replacement dosage starting at 0.04 mg/kg weekly
B. Discontinue GH and measure IGF-1 in 1 to 2 months
C. Discontinue GH and reassure the patient and family
D. Optimize the GH dosage to the pubertal dosage of 0.4 mg/kg weekly
E. Perform an insulin tolerance test
Answer B
Dr Nabilah 2023
80
Non identical twin one of them diagnosed with type 1 diabetes, what is the risk for the other twin to get T1DM?
A. 6%
B. 40-50%
C. 100%
D. 1%
Answer A
Dr Nabilah 2023
81
70% of the mutation in Prader-Willi syndrome is due to:
A. Paternal deletion
B. Paternal imprinting
C. Maternal UPD
D. Translocation
answer A
Dr Nabilah 2023
82
15 years old female phenotype present with history of absence signs of puberty, she is known to has a history of ambiguous genitalia during her neonatal period. Investigation show: 46XX with negative SRY estradiol low, estrogen low, US show a multiples ovarian cysts , what is the diagnosis
A. dysgenetic gonads
B. aromatase deficiency
Answer B
Dr Nabilah 2023
83
6-year-old boy is referred for evaluation of short stature. He was born full-term via normal vaginal delivery after an uncomplicated pregnancy. Birth length was 55 cm (97th percentile), and birth weight was 4400 g (97th percentile). The growth chart from the primary care provider shows that his length/height progressively dropped from the 97th percentile at birth to below the 3rd percentile by age 6 years. His weight shows a similar pattern.
• On physical examination, his height is 104 cm (<3rd percentile; height SDS, –2.25), weight is 16 kg (<3rd percentile; weight SDS, –2.13), and head circumference is 54 cm (98th percentile). He's dysmorphic, which includes posteriorly rotated ears, slight ocular hypertelorism, left-sided palpebral ptosis, pectus excavatum, and widely spaced nipples. There are no abnormal skin findings. He has a systolic murmur in the second intercostal space to the left of the sternum.
• The patient has 5 siblings. His 9-year-old brother was also large for gestational age, and his current height now plots below the 3rd percentile. He has facial features that are similar to those of the patient's. The other siblings are unaffected. The parents are first-degree cousins, have normal intellect, and have no dysmorphic features.
• Based on the clinical assessment, Noonan syndrome is suspected.
Among the genes associated with Noonan syndrome, pathogenic variant(s) in which of the following most likely explains this patient's history and clinical findings?
A. CBL (Cbl proto-oncogene)
B. LZTR1 (leucine zipper like transcription regulator 1)
C. NF1 (neurofibromin 1)
D. PTPN11 (protein tyrosine phosphatase nonreceptor type 11)
E. SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
Answer B
Dr Nabilah 2023
84
6 years old male on GH replacement therapy 25 mic\kg\day, l-thyroxin 50 mic once daily and hydrocortisone 10 mg\m2\day. The patient well committed to his treatments. Now present with visual disturbances. MRI brain show absent septum pellucidium with anterior pituitary hypoplasia, what is the Diagnosis? A. A. HESX1
B. PROP1
C. POU1F1
D. LHX3
Answer A
Dr Nabilah 2023
85
A 9 month old boy diagnosed with NDM during 1st month of life, present with chronic diarrhea started on ADEK vitamins as prescribed by gastroenterologist doctor, noticed to be hypotonic with unable to sit without support, what is the most likely gene defect?
A. PTF1A
B. NKX2-2
C. EIF2AK3
D. FOXP3
Answer A
Dr Nabilah 2023
86
A 13-year-old girl with known cystic fibrosis (homozygous Delta 508 pathogenic variant) undergoes yearly oral glucose tolerance testing. She is asymptomatic and specifically has no polyuria, polydipsia, or nocturia. Her BMI is 20.3 kg/m2 (Z-score, – 0.06). She follows the diet recommended by her pulmonology clinic dietitian. Her hemoglobin A1c value is 5.8% (40 mmol/mol).
Oral glucose tolerance test results (after standard 75-g glucose solution):
Which of the following diabetes treatment options would be best suited for this patient?
A. basal and bolus regimen with insulins glargine and lispro
B. Basal insulin with long-acting glargine
C. Meal bolus insulin with rapid-acting lispro
D. No treatment but monitor blood glucose with either a glucose meter (fasting and 1 hour postprandial) or glucose sensor
E. Oral glycemic agent repaglinide before each meal
answer D
Dr Nabilah 2023
87
2-year-old boy is admitted to the hospital with a seizure. He was born at 38 weeks' gestation and had a normal birth weight and birth length. He has always achieved age-appropriate developmental milestones.
On physical examination, his height is –2.6 SD and weight is –2.0 SD for age. He has typical prepubertal male genitalia.
Laboratory tests ordered in the emergency department show normal electrolytes but a plasma glucose concentration of 36.0 mg/dL (2.0 mmol/L). Brain MRI at an outside facility is shown (see images), although the radiology report is not available at this time.
Which of the following is this patient's most likely diagnosis?
A. Ectopic posterior pituitary with an interrupted pituitary stalk
B. Ectopic posterior pituitary within the pituitary stalk
C. Langerhans-cell histiocytosis
D. Normal findings of pituitary gland and stalk
E. Pituitary macroadenoma
Answer A
Dr Nabilah 2023
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Answer B
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Answer E
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Answer E
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Answer C
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Answer C
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Answer B
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Answer D
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Answer B
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Answer D
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Answer C
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Answer D
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Answer E
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Answer A
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Answer C
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Answer E
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Answer A
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Answer A
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Answer C
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Answer D
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Answer D
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Answer A
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Answer D
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Answer A
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Answer A
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Answer D
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Answer D
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Answer A
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Answer A
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Answer B
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Answer B
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Answer A
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Answer B
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Answer A
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Answer C
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Answer D
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Answer D
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Answer C
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Answer D
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Answer A
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Answer D
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Answer B
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Answer B
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Answer A
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Answer C
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Answer B
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Answer A
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Answer B
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Answer D
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Answer A
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Answer D
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Answer A
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Answer B
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Answer D
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Answer C
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Answer A
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Answer C
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Answer D
( Rickets , high ca , fracture, seizure ) Think of Hypophosphatasia
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Answer D
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Answer C
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Answer D
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Answer A
Dr Abdulaziz 2023
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In which stage of Type 1 Diabetes Patient will start to have clinical symptoms?
A) Stage 1
B) Stage 2
C) Stage 3
D) All of the above
answer C
Dr Ruba 2023 part 2
150
A 13-year-old boy came to your clinic with a history of polyuria and polydipsia.
on physical exam; His BMI was 30, and acanthosis nigricans was noticed around his neck.
You ordered blood work the results came back as follows:
HbA1C 9%
Random blood glucose 300mg/dl
Urine analysis negative for Ketones
You diagnosed him with T2DM, which treatment you would recommend?
A- Lifestyle changes for 6 months.
B- Metformin and healthy lifestyle changes.
C- Metformin 500mg BID
D- once-a-day intermediate-acting or long-acting basal insulin.
Answer D
Dr Ruba 2023 part 2
151
A 6-year-old girl was referred to your Endocrine clinic because she had persistent mild non-progressive fasting hyperglycemia.
Which of the following genes you would recommend testing?
A- GLUCOKINASE GENE MUTATIONS
B- HNF1A
B- HNF1B
C- HNF4A
Answer A
Dr Ruba 2023 part 2
152
14-year-old, markedly obese African American girl is admitted to the hospital with a serum glucose concentration of 776 mg/dL, dehydration, and diabetic ketoacidosis.
During hospitalization, her ketoacidosis is adequately corrected; however, she remains somnolent for an additional 24 hours.
Brain CT shows no signs of cerebral edema.
She eventually recovers but requires a very high insulin dosage (2 units/kg per day). Her insulin requirement decreases over the next 4 weeks. She subsequently develops recurrent episodes of hypoglycemia on low-dosage insulin therapy and her insulin is discontinued.
She is then prescribed glipizide, 5 mg daily.
On 2 occasions, she is rushed to the emergency department for confusion and lethargy due to hypoglycemia.
Her pediatrician then stops the glipizide. Her diabetes remains in remission for 4 years on no medication, but she has recently been prescribed glipizide again, at a dosage of 2.5 mg daily, because of an increase in her fasting serum glucose concentration to 130 mg/dL and postprandial glucose concentrations greater than 180 mg/dL.
Which of the following describes the most accurate counseling you could provide the family about the patient's clinical course?
A. She most likely has glutamic acid decarboxylase autoantibodies and will become insulin-dependent
B. She will most likely be able to discontinue oral medications and control her diabetes with lifestyle modifications alone.
C. Genetic testing will most likely reveal an HNF1A mutation and she will become insulin-dependent
D. Lifestyle modifications and oral medications may improve her condition for a period but she will eventually require antihyperglycemic therapy.
E. Her initial high insulin requirement suggests antibodies to the insulin receptor indicating that she may require U500 insulin in the future
Answer D
Dr Ruba 2023 , part 2
153
neonate with abnormal newborn screening results is referred for further evaluation and treatment. She was the (2840 g) product of a 37-week gestation and is the first baby born to her 28-year-old mother.
Newborn screening test results (day 2 of life):
Total T4 = 7.5 μg/dL (96.5 nmol/L) (<10th percentile) TSH = 32.0 mIU/L
On physical examination at day 7 of life, the infant has somewhat puffy facies, has a large posterior fontanel, and generally is hypotonic. The mother is attempting to breastfeed, but she notes that her baby takes a long time to nurse and sometimes has to be awakened for a feeding.
Serum thyroid function test results (day 7 of life):
Free T4 = 0.7 ng/dL (reference range: 0.8-3.3 ng/dL [10.3-42.5 pmol/L])
TSH = 12.8 mIU/L (0.6-5.6 mIU/L)
The mother relays that at the time of delivery, she was noted to have a goiter; her physician thus ordered thyroid function tests and gave her a prescription for levothyroxine. The mother is a vegetarian, has little intake of dairy products, and uses kosher salt. She took a prenatal multivitamin intermittently during her pregnancy.
Which one of the following best explains the clinical and laboratory findings in this case?
A. Hereditary thyroid dysgenesis in the mother and baby
B. An inborn error of thyroid hormone production in the mother and baby
C. Maternal autoimmune thyroid disease, producing a TSH receptor– blocking antibody causing neonatal hypothyroidism
D. Maternal and fetal iodine deficiency
E. Hereditary thyroid hormone transport defect in the mother and baby
Answer D
Dr Ruba 2023 , part 2
154
A 6-day-old male neonate born at term weighing (2700 g) develops poor feeding and lethargy. He is taken to the emergency department and is found to be dehydrated.
His parents report that he has continued to have wet diapers.
The blood glucose concentration is 488 mg/dL. There is no ketosis, and the serum bicarbonate concentration is 22 mEq/L.
The physical examination findings are notable for a paucity of subcutaneous fat, a large tongue, and an umbilical hernia.
Which one of the following laboratory studies is most likely to confirm this child's diagnosis?
A. DNA methylation analysis of chromosomal region 11p15
B. Confirmation of paternal uniparental disomy in the chromosomal region 6q24
C. Direct DNA sequencing of the ABCC8 and KCNJ11 genes
D. Radioimmunoassay for glutamic acid decarboxylase antibodies
E. Genetic testing for mutations in the gene encoding the insulin receptor (INSR)
Answer B
Dr Ruba 2023 , part 2
155
14-year-old previously healthy track athlete has been experiencing increased leg cramps while running. She sometimes feels tingling around her mouth and says that the muscles around her eyes feel “twitchy.” Her coach instructed her to drink more water and eat bananas before her races. Her symptoms have continued to worsen and she has now developed cramps in her hands, which makes it difficult to grip and pass the baton during relay races. She has a tonic-clonic seizure at home and is brought to the emergency department. When her blood pressure is checked, she has a carpopedal spasm. Growth and development have been normal, and she has regular menses. Her family history is notable for autoimmune hypothyroidism in her mother and celiac disease in her sister.
This patient's symptoms are most likely due to which of the following?
A. Hypermagnesemia causing suppressed PTH due to Gitelman syndrome
B. Thyrotoxicosis leading to neuromuscular excitability
C. Hypocalcemia causing increased acetylcholine release at the neuromuscular junction
D. Hypocalcemia causing increased activation of sodium channels at the neuromuscular junction
E. Hyponatremia due to excessive water consumption
Answer D
Dr Ruba 2023 , part 2
156
A 6-year-old boy presents with decreased growth velocity. He is otherwise healthy, but he is growing below the fifth percentile, which is discordant with the heights of his parents who are both at the 60th percentile. There is no family history of delayed puberty. His parents note that he is unable to smell
strong odors. He has no vision problems, and he is doing well in school without an abundance of absences. He struggles with enuresis. Bone age is delayed by 2 years. You are concerned about his growth and order additional evaluations including growth hormone provocative testing using arginine and clonidine.
Laboratory test results:
Complete CBC,chemistry panel, ESR and Celiac screen are normal
Free T4 = 0.6 ng/dL (7.7 pmol/L) (reference range: 0.9-1.8 ng/dL [11.6-23.2 pmol/L])
TSH = 0.5 mIU/L (reference range: 0.4-4.5 mIU/L)
Peak growth hormone with provocation = 3.1 ng/mL (3.1 μg/L)
Corticotropin-releasing hormone stimulation shows a rise in ACTH from 14.0 pg/mL (3.1 pmol/L) to 56.0 pg/mL (12.3 pmol/L) with a rise in cortisol from 2.0 μg/dL (55.2 nmol/L) to 25 μg/dL (689.7 nmol/L).
MRI of the pituitary reveals a small pituitary gland with a bright spot on T1-weighted imaging that is in the posterior aspect of the pituitary.
As you consider prescribing growth hormone therapy, which one of the following should you conclude?
A. The abnormal growth hormone stimulation results are not reliable because he is hypothyroid
B. Stress coverage, but not maintenance coverage, hydrocortisone should be initiated
C. The MRI findings indicate a high risk of multiple pituitary hormone deficiencies
D. Maintenance hydrocortisone should be initiated before administering growth hormone
E. The enuresis may be due to diabetes insipidus
Answer A
Dr Ruba 2023 , part 2
157
You are asked to consult in the newborn nursery to evaluate an apparently healthy newborn girl because of a prenatally determined 46,XY karyotype. On physical examination, the baby has normal-appearing female external genitalia, without clitoromegaly or labial enlargement. She has no hyperpigmentation. All other findings are normal. The parents are nonconsanguineous, and the family history is otherwise noncontributory. While awaiting results of endocrine evaluation and repeated karyotype analysis, the neonatologist notes an elevated serum creatinine concentration.
A mutation in which one of the following genes is most likely associated with this patient's diagnosis?
A. DHCR7 (7-dehydrocholesterol reductase)
B. NR5A1 (steroidogenic factor 1)
C. SOX9 (SRY [sex determining region Y]-box 9)
D. WNT4 (wingless-type MMTV integration site family, member 4)
E. WT1 (Wilms tumor 1)
Answer E
Dr Ruba 2023 , part 2
158
10 and 2/12-year-old boy comes to clinic to address concerns of growth acceleration. His height followed the 75th percentile from age 3 to 7 years. Growth acceleration was noted at his 10-year well-child visit. His parents report recent development of body odor and pubic hair, deepening of his voice, and sweaty palms. Midparental target height is at the 75th percentile (+0.7 SD).
On physical examination, height is 64.0 in (162.5 cm) (+3.0 SD), pubic hair is Tanner stage 2, phallus is 7 cm (stretched length), and testes are 6 mL in volume and soft in texture. There is no evidence of limb asymmetry. Arm span is 65.4 in (166 cm). Sweat is noted in the axillae and on the palms of his hands.
Bone age is interpreted to be 11 years.
Laboratory test results:
LH = 0.2 mIU/mL (0.2 IU/L) (prepubertal reference range: <0.3 mIU/mL [<0.3 IU/L])
Testosterone = 22 ng/dL (0.76 nmol/L) (prepubertal reference range: <20 ng/dL [<0.69 nmol/L])
DHEA-S = 101 μg/dL (2.7 mmol/L) (Tanner stage 2 reference range: 15-333 μg/dL [0.4-9.0 mmol/L])
IGF-1 = 950 ng/dL (124.5 nmol/L) (Tanner stage 2 reference range: 125-452 ng/dL [16.4-59.2 nmol/L])
Which one of the following is the cause of this child's accelerated growth?
A. Premature adrenarche
B. A pituitary adenoma producing growth hormone
C. Familial tall stature
D. A virilizing adrenal tumor
E. Marfan syndrome
Answer B
Dr Ruba 2023 , part 2
159
A male neonate in the well-baby nursery has poor feeding and is found to have a blood glucose concentration of 19 mg/dL (1.05 mmol/L). He was born at 36 weeks' gestation, and birth weight was 7 lb 1 oz (3200 g). Three hours after his next feeding, his blood glucose concentration is low again (35 mg/dL [1.94 mmol/L]). He is transferred to the neonatal intensive care unit, and intravenous dextrose at a rate of 14 mg/kg per min stabilizes his blood glucose concentration in the 60 to 80-mg/dL range. His feeding improves, but he is unable to be weaned from the dextrose infusion over the next 4 days.
Which one of the following statements is true?
A. The failure of oral feedings and the need for supraphysiologic glucose infusion to maintain euglycemia suggest a true genetic form of hyperinsulinism rather than transient hyperinsulinism
B. Prolonged hypoglycemia may be caused by gain-of-function mutations in the genes encoding the sulfonylurea receptor or the inwardly rectifying potassium channel
C. Focal lesions in this condition often demonstrate loss of heterozygosity of the paternal allele and sole expression of the maternal allele in the 11p15 region
D. Glucagon may be used both diagnostically to confirm hyperinsulinism and therapeutically to control glucose levels
E. Tachyphylaxis to octreotide therapy in SUR 1–related hyperinsulinism is due to the dysfunctional potassium-channel complex
Answer D
Dr Ruba 2023 , part 2
160
A 13-year-old boy presents for evaluation of short stature. A review of his growth chart shows that he grew along the 25th percentile for height and weight from 5 to 10 years of age. Mid-parental target height is at the 25th percentile. Medical history is unremarkable. A complete review of systems is normal, although his mother reports that his appetite is much less than that of other boys his age.
On physical examination, his weight is below the first percentile and his height is at the third percentile. He is proportionate with no dysmorphic features. Axillary hair is absent, pubic hair is Tanner stage 2, and testes are 6 ml. The rest of the examination findings are normal.
Laboratory evaluation reveals normal electrolytes, creatinine, albumin, thyroid function, and urinalysis. He has a mild microcytic anemia with a mildly elevated platelet count and a slightly elevated erythrocyte sedimentation rate. His IGF-1 concentration is low for his age at 89 ng/mL (11.7 nmol/L) (reference range: 92-375 ng/mL [12.1-49.1 nmol/L]). Bone age is interpreted to be 11 years.
What is the primary condition causing this patient's growth failure and the mechanism by which growth failure occurs in this condition?
A. Constitutional delay of growth and puberty; growth failure is due to lack of increase in GH because of delayed testosterone production
B. Idiopathic GH deficiency; growth failure is due to low IGF-1 levels
C. Familial short stature; growth failure is due to resistance to endogenous GH
D. Inflammatory bowel disease; growth failure is due to malnutrition and chronic inflammation
E. Chronic renal insufficiency; growth failure is due to malnutrition and GH resistance
Answer D
Dr Ruba 2023 , part 2
161
A 14-year-old girl is being followed up after thyroidectomy 4 years ago for multinodular goiter. For the last 4 years, she has continued to take levothyroxine. Her most recent TSH measurement was 1.2 mIU/L.
She reports that she has not had a menstrual cycle for 6 months. Menarche was at age 13 years. Her cycles were then sporadic for 18 months. She has also had episodes of amenorrhea lasting up to 8 months at a time. She is a runner, logging 15 to 30 miles a week, and she competes in marathons. Weight is 112 lb (50.9 kg) and height is 71.3 in (181 cm) (BMI = 15.6 kg/m2).
A decrease in which one of the following hormone levels is the most likely cause of her amenorrhea?
A. Cortisol
B. Ghrelin
C. Leptin
D. Prolactin
E. Thyroxine
Answer C
Dr Ruba 2023 , part 2
162
An 8-year-old girl is being treated for primary adrenal insufficiency. She has been referred for evaluation of her glucocorticoid replacement, which was initiated 1 year ago.
She initially presented at age 4 years with hypoglycemia. At that time, hypocortisolemia and elevated ACTH levels were documented.
An ACTH-stimulation test confirmed primary adrenal insufficiency. Normal plasma renin activity and absence of salt wasting were consistent with isolated glucocorticoid deficiency. Notes in her medical record state that despite ACTH levels repeatedly higher than the upper detection limit of the assays, she never had hyperpigmentation.
Her parents are first cousins, both have red hair, and both have very fair skin. The patient's physical examination findings are normal except for her height and weight, which are above the 97th percentile. Her sclerae are bluish-gray, and the pigmentation of her skin and hair is similar to that of unaffected family members. The family notes that her hair color was red during infancy and darkened as she got older. After hydrocortisone replacement at age 4 years, her hair color became red again.
The patient takes hydrocortisone, 12 mg/m2 per day, divided into 2 doses.
The parents have read that cortisol affects scalp hair in patients with Cushing syndrome, and they are concerned that their daughter's hydrocortisone dosage may be inappropriate. However, she has no symptoms or signs of adrenal insufficiency.
Which one of the following is the best course of action?
A. Reassure the parents that this is an appropriate hydrocortisone replacement dosage and explain that her skin color and changes in her hair color are consistent with ACTH levels and the family's ancestry and genetics
B. Refer the patient to a dermatologist for evaluation of possible vitiligo and other autoimmune conditions that may explain primary adrenal insufficiency as well
C. Decrease the hydrocortisone dosage to 5 to 7 mg/m2 per day; you agree with the parents that the replacement dosage may be too high, thus causing her hair to thin and become lighter in color
D. Increase the hydrocortisone dosage to 18 to 20 mg/m2 per day; explain that the current hydrocortisone dosage is too low, which is why ACTH levels have been consistently high
E. Order MRI of the hypothalamic-pituitary area; given the child's height and weight being above the 97th percentile, her high ACTH levels, and scalp hair changes, you suspect a pituitary tumo
Answer A
Dr Ruba 2023 , part 2
163
A 10-year-old Hispanic girl is referred for treatment of abnormal thyroid function after her family practitioner received results of tests ordered to evaluate concerns of fatigue and weight gain.
Review of her growth curve shows that she has been overweight since early childhood, with a recent acceleration in weight gain. There are no other symptoms consistent with hypothyroidism.
Both parents are overweight, and her mother has type 2 diabetes mellitus. Several family members take thyroid hormone treatment.
Mid-parental adult target height is at the 30th percentile. On physical examination, height is 55.1 in (140 cm) (60th percentile), and weight is 136.4 lb (62 kg) (>99th percentile) (BMI = 31.6 kg/m2 [>99th percentile]).
The thyroid gland is palpable and is estimated to be one and one-half times normal size, with no palpable nodules. Breasts are Tanner stage 3, and pubic hair is Tanner stage 2. The rest of the examination findings are normal. Thyroid function test results on referral:
◎ Free T4 = 1.1 ng/dL (14 pmol/L) (reference range: 0.6-1.5 ng/dL [8-19 pmol/L])
◎ Free T3 = 5.8 pg/mL (8.9 pmol/L) (reference range: 2.3-6.5 pg/mL [3.5-10.0 pmol/L])
◎ TSH = 6.50 mIU/L (reference range: 0.34-5.60 mIU/L)
◎ Which one of the following is the best management plan for this patient?
A. Recommend lifestyle changes and measure serum free T4 and TSH again in 3 months
B. Measure serum thyroglobulin antibodies and thyroperoxidase antibodies; start thyroid hormone if they are elevated
C. Perform thyroid ultrasonography; start thyroid hormone if findings are consistent with Hashimoto thyroiditis
D. Start levothyroxine, 75 mcg daily E. Start desiccated thyroid, 90 mg daily
Answer A
Dr Ruba 2023 , part 2
164
7-year-old girl presents with a 9-month history of acne and pubic hair growth and a 6-month history of clitoral enlargement. Her voice has deepened, and growth has accelerated from the 75th percentile to the 95th percentile in 1 year.
On physical examination, you confirm that she has severe facial and back acne, clitoromegaly, and a very deep voice. Her vital signs are normal.
Laboratory test results:
17-Hydroxyprogesterone = 140 ng/dL (4.2 nmol/L) (reference range <90 ng/dL [<2.7 nmol/L])
17-Hydroxypregnenolone = 210 ng/dL (6.3 nmol/L) (reference range: 10-186 ng/dL [0.3-5.6 nmol/L])
DHEA = 0.72 ng/mL (2.50 nmol/L) (reference range: 0.20-2.75 ng/mL [0.69-9.54 nmol/L])
Androstenedione = 34 ng/dL (1.2 nmol/L) (reference range: 8-50 ng/dL [0.3-1.7 nmol/L])
DHEA-S = 754 μg/dL (20.4 μmol/L) (reference range: 13-115 μg/dL [0.4-3.1 μmol/L])
Total testosterone = 350 ng/dL (12.1 nmol/L) (reference range: <10 ng/dL [0.3 nmol/L])
◎ Bone age is interpreted to be 10 years.
Which one of the following is the most likely diagnosis?
A. Nonclassic 21-hydroxlyase deficiency
B. 3β-Hydroxysteroid dehydrogenase deficiency
C. Adrenal adenoma or carcinoma
D. 5α-Reductase deficiency
E. Neuroblastoma
Answer C
Dr Ruba 2023 , part 2
165
Answer A
Dr Ameer 2023
166
Answer D
Dr Ameer 2023
167
Answer C
Dr Ameer 2023
168
Answer C
Dr Ameer 2023
169
A 10-year-old Asian girl is referred with a 3-week history of polydipsia and nocturia.
There is no history of weight loss though she has been lethargic and not interested in food over the last week. She was born by normal vaginal delivery at term and required admission for a few days for monitoring her blood glucose as her mother had gestational diabetes. She comes from a family of five; parents are non-consanguineous. The mother was diagnosed as having gestational diabetes during her pregnancy with our patient but since then has gone on to require insulin injections. The father has Type 2 diabetes. The maternal grandparents died young, both had Type 2 diabetes.
On examination her weight is at 99.6th centile and height is on the 98th centile. Her blood glucose on testing was 12.1 mmol/l.
How would you manage her condition?
A. Counsel parents and retest her blood glucose in 2 days time
B. Life style modification and start her on Metformin
C. Observe this child in the hospital to rule out Munchausen by proxy
D. Start insulin therapy and send samples for autoimmunity
Answer B
Dr Ameer 2023
170
Answer C. No thyroid tissue
Dr Ameer 2023
171
You are evaluating a 13-year-old girl who complains of malaise, fatigue, and occasional abdominal discomfort. You diagnosed hypothyroidism due to chronic lymphocytic thyroiditis (Hashimoto thyroiditis) 6 years ago. She has normal serum immunoglobulin A concentrations. A tissue transglutaminase antibody study was negative 1 month before this visit, and free thyroxine and thyroid-stimulating hormone (TSH) values were normal at that time. She reports that she has been eating poorly and has lost 5 lb since you saw her at the beginning of the summer.
Of the following, the MOST important laboratory studies to obtain at this time are:
A. complete blood count and erythrocyte sedimentation rate
B. duodenal biopsy for cryptic celiac disease
C. measurement of cortisol and adrenocorticotropic hormone
D. measurement of free thyroxine and TSH
answer C
Dr Ameer 2023
172
Answer C
Dr Ameer 2023
173
Answer C
Dr Ameer 2023
174
Answer B
Dr Ameer 2023
175
Answer B and treatment is Nacl Replacement
Dr Ameer 2023
176
Answer A
Dr Ameer 2023
177
Answer D
Dr Ameer 2023
178
Answer D
Dr Ameer 2023
179
Answer B
Dr Ameer 2023
180
Answer 3 and 4
Dr Ameer 2023
181
Answer 3
Dr Ameer 2023
182
Based on ISPAD guideline the target RBS:
a) premeal : 70-130 mg/dl postmeal: 90-180 mg/dl
b) premeal : 90-150 mg/dl postmeal : 100-200 mg/dl
c) premeal : 70-126 mg/dl postmeal : 90- 162 mg/dl
Answer A
Dr Bahha part 2
183
Regarding Cystic fibrosis-related diabetes (CFRD):
a) Its uncommon in CF patient.
b) Usually Presentation with diabetic ketoacidosis.
c) Annual screening for CFRD should begin at least by age 15 years in all CF
patients
d) they don't have macrovascular complication.
e) The best screening is by hgb A1c.
Answer D
Dr Bahha part 2
184
Diabetic patient with a lot of hypoglycemia . The family ask about the new
pump with low glucose suspend system . what true about the (LGS):
a) preventing hypoglycemia
b) Interrupts insulin delivery if the sensor glucose is predicted to reach 20 mg/dL above the preset low glucose limit within 30-minutes and automatically resumes basal insulin delivery after recovery from hypoglycemia.
c) interrupt insulin delivery for 2 hours when sensor glucose reaches a predefined low sensor threshold and automatically resumes insulin delivery base on the sensor glucose levels.
d) reduction in combined severe (seizures/coma) and moderate hypoglycemia
Answer D
Dr Bahha part 2
185
Patient presented with congenital hyperinsulinism that is not responding to diazoxide, genetic study show ABCC8 mutation . It is indication to do PET scan if the mutation is :
A. Homozygous mutation
B. Combined heterozygous mutation .
c. Dominant heterozygous
d .Recessive heterozygous inheritance from Paternal mutation.
answer D
Dr Bahha part 2
186
The PICU call you for 13 years old boy with motor accident patient stay
in PICU for more than 1-month labs show
• Serum calcium = 14 mg/dL (8.5-10.0 mg/dL)
The best management of hypercalcemia :
a) loop diuretics
b) Decrease Ca intake
c) Start calcitonin
d) Start hydrocortisone
e) intravenous bisphosphonates
Answer E
Dr Bahha part 2
187
Patient with nephrotic syndrome lab show :
Ca level : 6 mg/dl (9.0-10.8 mg/dl)
Albumin level : 2.5 g/dl (3.4 to 5.4 g/dL)
The cause of low Ca in this patient is the urinary losses of :
A) albumin
b) PTH
C) vitamin D–binding proteins
d) Vitamin D
Answer C
Dr Bahha part 2
188
13 months old boy is admitted to the hospital for seizure activity . he was formula
fed until last month and now drinking milk daily . He begin crawling at age of 11 months
and is not yet pulling to stand Lab result :
• Ca 7mg/dl (9.0-10.8 mg/dl)
• Phosphate 1.9 mg/dl ( 4-5.5 mg/dl )
• Alkaline phosphatase 1387 U/L
• 25-hydroxyvitamin 25 ng/ml
• PTH 683 pg/ml (16-87pg/ml)
• 1,25-dihydroxyvitamin D = 84 pg/ml (24-86 pg/ml )
• The diagnosis :
a) Pseudohypoparathyroidism
b) Vitamin D-resistant rickets
c) 1 alfa hydroxylase deficiency
Answer c
Dr Bahha part 2
189
2 years old present with lower leg bowing, labs showed :
• Ca 10 mg/dl (9.0-10.8 mg/dl)
• Phosphate 1.9 mg/dl ( 4-5.5 )
• Alkaline phosphatase 1387 U/L
• 25-hydroxyvitamin 50 ng/ml (50-70 ng/ml)
• PTH 80 pg/ml (16-87pg/ml)
• 1,25-dihydroxyvitamin D = 80 pg/ml (24-86 pg/ml )
• FGF 23 = 2 RU/ML (5 to 210 RU/ml)
• what is the treatment?
a) Oral phosphate only
b) Oral phosphate + calcitriol
c) burisumab
d) High doses of vitamin D
answer A
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An overweight 15-year-old girl just returned from vacation. A few days after taking some diet pills while on her trip, she developed a sore throat, palpitations, and a headache. She does not have the pills with her and cannot recall the name. Her parents brought her to the ER, where she was found to be tachycardic and hypertensive. On physical examination, her BP is 140/90 mm Hg and HR is 124 beats/min. She has a fine tremor. She has no goiter and no
thyroid gland tenderness. Laboratory test :
TSH = <0.03 mIU/L (0.35-5.00 mIU/L)
Free T4 = 0.92 ng/dL (0.71-1.85 ng/dL) (SI: 11.8 pmol/L [9.1-23.8 pmol/L])
Total T3 = 776 ng/dL (84-179 ng/dL) (SI: 12.0 nmol/L [1.3-2.8 nmol/L])
ESR = 46 mm/h (0-20 mm/h)
Thyroid iodine uptake on a nuclear scan is low at 5.7% at 22 hours.
Which of the following assessment(s) should be ordered to determine
whether she has subacute thyroiditis or exogenous intoxication?
A. Complete blood cell count with differential
B. Thyroglobulin measurement and assessment of thyroglobulin antibodies
C. Calcitonin measurement
D. Procalcitonin measurement
E. Thyroid ultrasonography
answer B
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From the following which labs match with their adrenal disease :
A) low 17 hydroxyprogesterone with 21 hydroxylase deficiency
B) high Dehydroepiandrosterone sulfate with 17 alpha-hydroxylase
C ) low pregnenolone with 20,22 desmolase deficiency
D) high progesterone with 3-beta-hydroxysteroid dehydrogenase deficiency
answer C
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Association with kallmann syndrome
a) Hearing loss
b) Seizure
c) Developmental delay
d) Vision loss
Answer A
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193
16 years old girl present with 2nd amenorrhea. She had menarche at age
13 years with irregular periods every 1 to 3 months over next 18 months. She
has not had a period in 15 months. She is not overweight. She is dark skinned
and has mild acne on her face and trunk. She has some hair on her upper lip .
• Which of the following would be the best next step in evaluation PCOS :
A) serum insulin measurement
B) pelvic u/s
C) serum antimullerian hormone measurement
d) watchful waiting with reevaluation in 1 y
e) serum testosterone measurement
answer E
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194
boy came with bilateral cryptorchidism & normal male genitalia, US showed fallopian tubes & uterus, what is the most likely karyotype result?
A. 46 XY
B. 45X/46XY
C. 46XY/ 46XX
d. 46 XX
answer A
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195
5-week-old male referred for evaluation of gynecomastia. He was born at 40 weeks' gestation, birth weight was 3520 g, and there were no complications during pregnancy or delivery. His parents report that they first noticed breast tissue at about 1 week of age. The tissue has been increasing in size and getting firmer, and they have noticed milky discharge on 2 occasions. His diet is primarily breast milk with some formula supplementation. His parents state that he has had no known contact with hormone preparations, and they use a standard baby wash for baths. O/E , his length is at the 60th percentile and weight is at the 90th percentile. He appears well, and examination findings are normal except for very firm, mobile breast tissue bilaterally, measuring 7 to 8 cm. There are no midline defects, and there is no discharge from the nipples. Laboratory test results:
β-hCG = <1 mIU/mL (0-3 mIU/mL) (SI: <1 IU/L [0-3 IU/L])
TSH = 6.38 mIU/L (0.72-11.00 mIU/L) Free T4 = 1.46 ng/dL (0.48-2.34 ng/dL)
Prolactin = 108.5 ng/mL (≤10 ng/mL) (SI: 4.7 nmol/L [≤0.4 nmol/L]) Karyotype = 46,XY
Which of the following is the best next step in this patient's management?
A. Perform MRI of the brain and pituitary gland
B. Measure LH, FSH, and testosterone
C. Measure prolactin again in 2 to 4 weeks
D. Start dopamine agonist therapy
E. Order genetic testing of the MEN1 gene
answer c
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10-year-old girl has diagnosis as GH deficiency base on GH stimulation test . MRI with and without
contrast of the pituitary/ hypothalamus shows no masses or midline shift. There is a hyperintense area
on the noncontrast film located on a thin mall` infundibulum.
The pituitary gland is otherwise unremarkable. The radiologist's conclusion states, "ectopic posterior
pituitary with no masses, cysts, or adenomas."
• Which of the following is the most appropriate conclusion?
a) She has definitive GH deficiency and needs a water deprivation study to explore the possibility of diabetes
insipidus (DI)
b) She has definitive GH deficiency, but is not expected to have other pituitary hormone deficits
c) She has definitive GH deficiency, and she is likely to have other pituitary hormone deficits
d) She probably has isolated GH deficiency, but likely develop panhypopituitarism, including DI
e) She has isolated GH deficiency, but needs serial MRI of the pituitary every 3 months
Answer c
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197
17 years old boy with headache, MRI showed 12mm pituitary tumor. No
medications, no galactorrhea, normal genitalia, his prolactin is 79 ng/ml (≤10 ng/mL). of
the following which is the most likely reason for his prolactinoma :
A. Chronic renal failure
B. Compression of pituitary stalk
C. Hypothyroidism
D. Illicit drug use
E. Secretion of prolactin by the tumor
Answer B
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198
10 years old boy present visual field defects labs show prolactin level
2300 ng/ml (normal less than 20 ng/mL ) Regarding hyperprolactinemia :
a) Treat with dopamine antagonist
b) Surgical treatment is the first choice in Prolactin-secreting Macroadenoma
c) Prolactin-secreting Microadenoma more common in pediatric compered to
adults
d) Around 90% of patients with visual field defects recover on medical therapy.
Answer D
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199
13 old girl is referred for evaluation of short stature. She was originally seen by an adult endocrinologist closer to home at age 8 years because of poor growth. At that time, general laboratory test results and bone age were normal. today, her height is 124.5 cm (<1st %, –2.9 SD), weight is 54 kg (85th percentile), and BMI is at the 98th percentile. Her vital signs are normal. She
has macrocephaly and mild retrognathia. Her arms and legs appear short. She has mild brachydactyly. She does not have scoliosis. Breasts and pubic hair are Tanner stage 5. Her mother reports that she grew 1.5 cm in the last year. Breast development and pubic hair growth started at age 9 years, and menarche was at age 11 years. She has spontaneous regular menses. She has a history of frequent ear infections. There are no developmental delays. Review of systems is otherwise normal. Her midparental target height is 162.6 cm. There is no family history of short stature. The patient is very anxious about her growth potential Which of the following is the most likely explanation for her short stature?
A. Maternal uniparental disomy of chromosome 15
B. Mosaic Turner syndrome
C. Activating pathogenic variant in the FGFR3 gene
D. Inactivating pathogenic variant in the maternal allele of the GNAS gene
E. Pathogenic variant in the FMR1 gen
answer C
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200
A 7-year-old girl is referred after a standard lipid assessment documented the following results:
Total cholesterol = 279 mg/dL (<170 mg/dL)
HDL cholesterol = 51 mg/dL (30-65 mg/dL)
LDL cholesterol = 190 mg/dL (<130 mg/dL)
Triglycerides = 190 mg/dL (30-140 mg/dL)
The blood draw was performed after she had eaten breakfast. The patient's mother reports that they have reduced sugary drinks and increased physical activity for the past 6 months because of her daughter's rising BMI. There is no family history of early cardiovascular disease. The patient's maternal grandmother has high cholesterol that was diagnosed in her 50s and she is doing well on medication. The patient's father is in his 40s and has a normal
cholesterol level. The patient's mother has not had her cholesterol checked but plans to do so at her next check-up.
Which of the following is the best next step in this patient's management?
A. Redraw a fasting lipid panel in 3 months
B. Initiate the Cardiovascular Health Integrated Lifestyle Diet (CHILD-2 diet)
C. Start a fibrate
D. Start a statin
Answer A
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201
6 years old obese girl recent diagnosis with leptin receptor (LEPR)
deficiency by genatic test. the family ask you about the new medication
IMCIVREE (setmelanotide)
• What true about the medication :
a) Not approval for leptin receptor (LEPR) deficiency
b) Approve only above age of 12 years
c) Approve in patient with leptin deficiency
d) It is an melanocortin 4 (MC4) receptor agonist
Answer D
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202
Review of the growth chart for a 5-year-old morbidly obese girl reveals
that her excessive weight gain began by age 6 months. Her height is at 1.5
SD above the mean and her weight 5 SD above the mean. She has no
dysmorphic features.
• Which of the following disorders is she most like to have?
a) Prader-Willi syndrome
b) MC4-R (melanocortin 4 receptor) mutation
c) Soros syndrome
d) Beckwith-Wiedemann syndrome
e) Hypothalamic hamartoma
Answer b
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Answer A
Dr Sara
204
Answer D
Dr Sara
205
Answer B
Dr Sara
206
Answer C
Dr Sara
207
Most likely diagnoses
Pit1 ( POU1F1)
208
Answer B
Dr Sara
209
* A 4-and-7/12-year-old boy born to Scottish parents presents to the emergency department with recurrent bouts of vomiting and diarrhea over the past year.While in the emergency department, he has a seizure and is noted to be hypoglycemic (blood glucose = 14.4 mg/dL [0.8 mmol/L]). He is given a glucose and fluid bolus and is maintained on an intravenous dextrose and saline solution.
* He was born at term and was treated for neonatal jaundice. His parents describe him as being a sickly child who "catches everything," but because he has always grown well,
* the child is hyperpigmented. His weight is at the 50th percentile, and height is greater than the 90th percentile. Bone age is advanced to 8.2 years. Blood pressure is normal, and he is clinically prepubertal.
Blood tests confirm that serum cortisol is undetectable and plasma ACTH is high. Laboratory test results:
Random serum cortisol = <1.8 ug/dL (4.3-9.4 mg/dL) (SI: <50 mol/L [120-620
Plasma ACTH = 4310 pg/ mL (6-48 pg/mL) (SI: 948.2 pmol/L [1.3-10.6 pmol/L])
Sodium = 140 mEq/L (136-144 mEq/L) (SI: 140 mmol/L [136-144 mmol/L])
Potassium = 4.8 mEq/L (3.2-5.2 mEq/L) (SI: 4.8 mmol/L [3.2-5.2 mmol/LI)
Plasma renin activity = 3.5 ng/mL per h (0.6-3.8 ng/mL per h)
Aldosterone = 6.7 ng/ dL (3.6-16.2 ng/dL) (SI: 185 pmol/L [100-450 pmol/L])
17-Hydroxyprogesterone = 33.0 ng/dL (<92.4 mol/L) (SI: 1.0 mol/L <2.8
Androstenedione = <10.0 ng/dL (10.0-16.9 ng/dL) (SI: <0.35 mol/L [0.35-0.59 mol/L])
Calcium = 9.2 mg/dL (8.4-10.0 mg/dL) (SI: 2.3 mmol/L (2.1-2.5 mmol/L])
TSH = 4.0 mlU /L (0.5-4.8 mlU/L)
Free T4 = 1.1 ng/dL (0.9-1.6 ng/dL) (SI: 13.8 pmol/L [12.0-20.6 pmol/LI)
Adrenal antibodies, negative
Very long-chain fatty acids, normal
Which of the following is the most likely diagnosis?
A. Addison disease
B. Familial glucocorticoid deficiency
C. Congenital adrenal hypoplasia
D. Congenital adrenal hyperplasia
Answer B
Dr sara
210
Seven-year-old girl, presented to the endocrine clinic because of short stature, which was reported since birth. She continued to be shorter than her schoolmates. On examination (photo). Which one of the following is a diagnostic investigation?
a) Bone age assessment.
b) Skeletal survey
c) Thyroid function test.
d) Chromosomal analysis.
Answer B
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211
Which age group is more likely to exhibit a 1:1 upper-to-lower segment ratio, on average?
a) 0-2 years
b) 3-5 years
c) 6-12 years
d) 13-16 years
Answer C
Dr Alagha 2023
212
Eighteen–month–old boy, brought by his parents because of increasing bowing of his legs (photo). Nutritional history was unremarkable. He has been on a vitamin D prophylactic daily dose (400 units) since birth. His limb x-ray (photo). His bone profile including calcium, phosphate, and alkaline phosphatase were normal. Which one of the following is the most likely diagnosis?
a) Osteodystrophy.
b) Vitamin D resistant rickets.
c) Blount's disease.
d) Hypophosphatasia.
Answer C
Dr Alagha 2023
213
Eight -week-old infant, brought by his mother because of previous fractures of the left femur & and right tibia that happened during labor. The mother noticed some eye changes (photo). Plain x-ray of his lower limb (photo). What is the most likely diagnosis?
a) Hypophosphatasia.
b) Osteogenesis imperfecta.
c) Congenital vitamin D deficiency.
d) Hypophosphatemic rickets.
answer B
Dr Alagha 2023
214
A 38-weeker newborn was delivered by an emergency C-section due to fetal distress. She was admitted to (NICU) with moderate respiratory distress shortly after birth, requiring continuous positive airway ventilation. On physical examination, she has disproportionately short limbs and bowing of the long bones. Her chest appears narrow, and she has widened wrist and ankle joints. She displays generalized muscle weakness and poor muscle tone, making it difficult for her to move her limbs. Her X-rays show findings of generalized completely under-mineralization of bones. Which one of the following investigations is diagnostic?
a) Serum calcium.
b) Serum phosphate.
c) Serum alkaline phosphatase.
d) Serum vitamin D metabolites.
Answer C
Dr Alagha 2023
215
A two-year-old boy was referred for further assessment of his increasing bowlegs. His brother has rickets. On chest examination (photo). Investigations revealed obtained: serum calcium: 2.37mmol/l, phosphate: 0.13mmol/l, alkaline phosphatase: 805IU/l, PTH: 1.3pmol/l. Which one of the following is the most likely diagnosis?
a) Nutritional rickets.
b) Vitamin D dependent type 1 rickets.
c) Vitamin D dependent type 2.
d) X- linked hypophosphatemic Rickets.
Answer D
Dr Alagha 2023
216
An Eighteen-month-old boy was referred for further assessment of his increasingly bowing legs. His parents are first-degree cousins. He has been on vitamin D3 therapy for the last 6 months, a dose of 3000 units/day with good compliance. On examination, in addition to the manifestation of rickets, he has alopecia capitis. Serum calcium:1.37mmol/L, phosphate: 0.13mmol/L, alkaline phosphatase: 805IU/L, PTH: 100 (6-15) pmol/L. Which one of the following is a diagnostic investigation?
a) Wrist X-ray to confirm active rickets.
b) 25- hydroxy vitamin D metabolite.
c) 25 &1,25- di hydroxy vitamin D metabolites.
d) FGF23 level.
Answer C
Dr Alagha 2023
217
Thirteen-year-old – girl presented to the orthopedic clinic with a two-year history of limping in her left leg. She has been diagnosed with hypothyroidism but is not compliant with her medication. On examination, she is short & and obese with a goiter and other signs of hypothyroidism. She had limitation of movement of her left hip and she is limping. What is the most likely diagnosis?
a) Slipped capital femoral epiphysis (SCFE).
b) Chronic Osteomyelitis.
c) Vitamin D deficiency.
d) Monoarticular rheumatoid arthritis.
Answer A
Dr Alagha 2023
218
An 18-month-old infant is seen because the mother is concerned that his legs are bowed (photo). The infant was breastfed until 14 months of age. Which one of the following, laboratory tests are MOST likely to reveal?
a) Hypophosphatemia.
b) Hypocalciuria.
c) Hypercalcemia.
d) Hyperphosphatemia.
Answer B
Dr Alagha 2023
219
Fifteen-year-old girl, with CKD (chronic kidney disease) has presented with generalized bone pain. Her calcium was 2.8 mmol/l, phosphate 3.2 mmole/l, alkaline phosphatase 860 pg/ml, PTH 760 (35-70 pg/ml), and both vitamin D metabolites were low. Lower limb X-ray (photo). Which one of the following is the underlying diagnosis?
a) Hypoparathyroidism.
b) Tertiary hyperparathyroidism.
c) Secondary hyperparathyroidism.
d) Primary hyperparathyroidism.
Answer B
Dr Alagha 2023
220
A 4-year-old girl presents after her mother noted vaginal bleeding; no history of associated trauma, pain, or foul odor is reported. Physical findings also include breast budding and a large café au lait macule with jagged margins located in a segmental distribution over her back, stopping at the midline. Which of the following best describes the expected radiographic findings in this patient?
a) Absence of the radius, dislocation of the carpus, and a rudimentary thumb. b) Fused hypoplastic cervical vertebrae.
c) Wormian bones and generalized cortical thinning of the long bones.
d) Multiple areas of fibrous dysplasia in the long bones and pelvis.
Answer D
Dr Alagha 2023
221
Six-year-old girl, with 6 months history of pubic hair growth associated with fine axillary hair as well as adult odor to sweat. No breast development with no acceleration of growth. Otherwise, normal history and examinations. What is the most likely diagnosis?
a) Precocious puberty.
b) Benign premature Adrenarche.
c) Non-classical congenital adrenal hyperplasia.
d) Adrenal tumor.
Answer B
Dr Alagha 2023
222
Two-year-old girl, presented with abdominal distension, there was three months history of bilateral breast enlargement, pubic hair appearances & rapid growth. Her abdominal CT scan (photo).
Which one of the following is most likely diagnosis?
a) β-HCG secreting hepatoblastoma
b) McCune Albright syndrome.
c) Benign premature Adrenarche.
d) Ovarian cyst.
Answer A
Dr Alagha 2023
223
Six-month-old 46 XY infant presented with non-palpable testes. Which one of the following, the most appropriate next step would be?
a) Assure and re-examination of him again at age 18 months.
b) Refer the patient for exploratory laparotomy.
c) Measure basal and HCG stimulated testosterone & DHT.
d) Measure serum level of Anti-Müllerian hormone (inhibin B).
Answer D
Dr Alagha 2023
224
A six-year-old girl is referred for growth failure, poor appetite, recurrent abdominal pain, ‘thick custard' stools, and vomiting. What is the appropriate most confirmatory investigation?
a) Bone age.
b) Anti-tissue transglutaminase antibody.
c) Duodenal biopsy.
d) Serum iron & ferritin.
Answer answer B
Dr Alagha 2023
225
Six-year-old boy, known case of growth hormone deficiency on GH therapy, referred from orthopedic clinic for second opinion, as he has thoraco-lumbar scoliosis. Which one of the following is the best management choice?
a) No worries, continue GH safely.
b) Stop GH therapy immediately.
c) Decrease the dose of GH.
d) Continue with close observation, with follow up with orthopedic surgeon.
Answer D
Dr Alagha 2023
226
The eight-year- boy recovered from medulloblastoma 4 years ago. Treatment at that time consisted of chemotherapy and craniospinal irradiation. Child's clothes of the same size for the last year. On examination, height was below 3rd%, weight on 25th %. His upper: lower segment was 0.8:1. Which one of the following is the most likely cause of short stature?
a) An acquired growth hormone deficiency.
b) Chemotherapy-induced hypopituitarism.
c) Irradiation-induced spinal epiphyseal fusion.
d) Acquired central hypothyroidism.
Answer C
Dr Alagha 2023
227
A thirteen-year-old boy was growing well until 2 years ago when his family noticed slow growth. He is an otherwise healthy child. On his examination, his height percentile dropped below 3rd. percentile in comparison to 25 %, 2 years ago. His Tanner's stage was prepubertal. Bone age was 9 years. Which one of the following, is the MOST likely cause of short stature?
a) Familial short stature.
b) Growth hormone deficiency.
c) Constitutional delay.
d) Hypogonadism.
Answer C
Dr Alagha 2023
228
During a regular check-up, an 8-year-old boy is examined, and it's noted that his growth in terms of height and weight remains consistently around the 5th percentile. Which diagnostic test distinguish between constitutional growth delay and genetic short stature?
a) GH stimulation test.
b) TSH/FT4
c) IGF-1/IGFBP3
d) Bone age
Answer D
Dr Alagha 2023
229
A thirteen-year-old girl is referred to with growth failure with delayed puberty. On examination, her height is below the 3rd %. (photo Turner ). Which one of the following is the most likely diagnosis?
a) Constitutional Delay of Puberty.
b) Hypogonadotropic hypogonadism.
c) Hypopituitarism.
d) Hypergonadotropic hypogonadism.
answer D because of streek gonad
Dr Alagha
230
A seven-year-old has presented to the endocrinology clinic with short stature and mental subnormality. What is the most likely diagnosis?
a) Turner's syndrome.
b) VATER syndrome.
c) Silver – Russel syndrome.
d) Noonan's syndrome.
Answer D
Dr Alagha 2023
231
Twenty–day–old, neonate was seen in the pediatric endocrinology clinic for recurrent episodes of hypoglycemia. On examination, he had a cleft lip and palate with a small mid-face. Both testes were palpable, however short penile length was measured. What is your best approach to reach the final cause of hypoglycemia?
a) Look for other dysmorphic features.
b) Admit to do critical samples.
c) GH stimulation test.
d) MRI brain.
Answer D
Dr Alagha 2023
232
Six-year-old boy presented to the endocrine clinic with a tall stature which was started in his first year of life. The child was having delayed speech with autistic behavior. He is studying in a special school as his IQ is below normal. On examination, his weight and height were above 99%. What is the most likely diagnosis?
a) Pituitary gigantism
b) Fragile X syndrome.
c) Soto's syndrome.
d) Beckwith Weidman syndrome.
Answer C
Dr Alagha 2023
233
Otherwise, healthy 6-week infant presented with generalized seizure. She was, somewhat sleepy with normal examinations. Her glucose was 4.1 mmol/l, sodium 141 mmol/l, calcium 1.5 mmol/l, phosphorus 2.1 mmol/l, magnesium 0.8 mmol/l & ALP 200 IU/l, PTH was undetectable. Which one of the following is most likely diagnosis?
a) Pseudo pseudohypoparathyroidism.
b) Hypoparathyroidism.
c) Vitamin D deficiency.
d) Albright's hereditary osteodystrophy.
Answer B
Dr Alagha 2023
234
Eleven-year-old boy, presented with mental subnormality, facial dysmorphism (photo), and severe growth failure. Which diagnostic laboratory investigation, you are going to order?
a) Chromosomal analysis.
b) GH provocative test.
c) Bone age.
d) Serum calcium, phosphate & PTH.
Answer D
Dr Alagha 2023
235
Nine-month-old boy was brought by his parents due to repeated attacks of hypocalcemia since birth, with a past history of open heart surgery during the neonatal period . Which one of the following investigations is essential to reach the diagnosis of hypocalcemia?
a) Serum ionized calcium.
b) Serum phosphate.
c) Serum 25- hydroxy vitamin D.
d) Serum Parathyroid hormone.
Answer D
Dr Alagha 2023
236
Six- year - old boy with obesity, mental retardation & subcapsular cataract. On examination, his hand Shortening of fourth and fifth Metacarpal, Which one of the following is expected laboratory finding?
a) Low calcium and low phosphate
b) High calcium, high phosphate
c) Low calcium, high phosphate
d) Normal calcium, normal phosphate
answer C
Dr Alagha 2023
237
A six-year-old girl was brought to the endocrine clinic because her mother noticed neck swelling. She is otherwise a healthy, well-developed child. Neck swelling was not painful but increased in size with growth (photo). Which one of the following is the most likely diagnosis?
a) Enlarged submandibular lymph node.
b) Small cystic hygroma.
c) Thyroglossal cyst.
d) Laryngocele.
Answer C
Dr Alagha 2023
238
A preterm baby, 28 weeks with birthweight of 1,2 kg. A thyroid screening test revealed low fT4 and low TSH. Which one of the following is the most accurate statement?
a) Hypothalamic-pituitary-thyroid axis immaturity.
b) Hypothyroxinemia of prematurity needed short-term Thyroxine replacement.
c) Sick euthyroid syndrome.
d) Abnormal thyroid function due to application of iodine-containing antiseptics.
Answer A
Dr Alagha 2023
239
A neonate has a moderately enlarged thyroid gland with respiratory distress. His thyroid function test revealed high TSH and low Ft4. There was a history of maternal anti-arrythmia medication during pregnancy.Which one of the following is the underlying cause of his goiter and hypothyroidism?
a) Congenital thyroid dysgenesis.
b) Iodine deficiency goiter “endemic goiter”.
c) Hypothyroidism due to maternal treatment with anti-thyroid.
d) Hypothyroidism due to iodine excess.
Answer D
Dr Alagha 2023
240
Twelve-year-old girl, who has presented with exophthalmos and weight loss. Her laboratory tests confirm Graves's disease. Which one of the following is the most likely cause for her exophthalmos?
a) Fat tissue deposition.
b) Ocular muscle hyperplasia.
c) Inflammatory infiltrate.
d) Globe enlargement
Answer c
Dr Alagha 2023
241
Ten – year old girl with Graves disease, on carbimazole therapy. Which one of the following is the most serious side effect of anti-thyroid medication?
a) Fever.
b) Rash.
c) Granulocytopenia.
d) Arthritis.
Answer C
DrAlagha 2023
242
three-year-old boy presented with goiter, short stature, deafness, and symptoms suggestive of mild hypothyroidism. On examination, is having normal mentality, diffuse goiter, deaf, and mute with normal CNS examination apart from sluggish reflexes. He has high TSH, as well as high fT4 and fT3. Which of the following is the most likely diagnosis?
a) Generalized resistance to thyroid hormone (GRTH).
b) Pituitary resistance to thyroid hormone (PRTH).
c) Pendred's syndrome.
d) TSH secreting Adenoma.
Answer A
Dr Alagha 2023
243
A 2-week-old infant is brought to the pediatric clinic due to ambiguous genitalia and feeding difficulties. Physical examination reveals virilization of the external genitalia. What is the most useful diagnostic investigation?
a) 21-hydroxylase enzyme.
b) 17-hydroxyprogesterone.
c) Serum electrolytes.
d) DHEAS
Answer B
Dr Alagha 2023
244
Eleven-year-old girl has presented with headache, associated with hypertension. Her electrolytes revealed hypokalemia and metabolic alkalosis. Which one of the following is the most likely diagnosis?
a) Diuretic therapy.
b) Bartter syndrome.
c) Gitelman syndromes.
d) Conn's syndrome.
Answer D
Dr Alagha 2023
245
Sixteen–year–old phenotypically female, presented with primary amenorrhea. Height 160 cm, weight 45 kg. Tanner stage of B3 PH 1-2. What is the most likely diagnosis?
a) Mullerian dysgenesis.
b) Turner's syndrome.
c) Complete androgen insensitivity syndrome.
d) Kalman's syndrome.
answer C
Dr Alagha 2023
246
You are a healthcare provider and have just diagnosed a 16-year-old adolescent girl with PCOS on oral contraceptive pills. Her parents are concerned about her excessive facial hair and acne and request an alternative treatment. Which of the following medications represents the most appropriate next step in the treatment of this patient?
a) Spironolactone.
b) Leuprolide.
c) Clomiphene.
d) Insulin.
Answer A
Dr Alagha 2023
247
A three-year-old girl with delayed motor milestones and a learning disability. Perinatal histories were normal. The mother reported that her daughter was floppy in the first year of life with poor feeding. On examination, weight was above 99 %, and height was at 10%. She has short stubby fingers and almond-shaped eyes. What is the most likely genetic cause of this condition?
a) Triploidy on chromosome 21.
b) Maternal uniparental isodisomy of chromosome 7.
c) 25% of cases, two copies of chromosome 15 from their mother.
d) Duplication of the long arm of the X chromosome.
Answer C
Dr Alagha 2023
248
Eleven-year-old boy, presented with truncal obesity, striae, hypertension and osteoporosis. Which one of the following is the most common cause?
a) Adrenal adenoma.
b) Adrenal carcinoma.
c) congenital adrenal hyperplasia.
d) Lipoid adrenal hyperplasia.
Adenoma
249
A three-year-old boy, presented to the emergency room with severe bronchopneumonia. He was admitted to PICU and then ventilated. His chest x-ray revealed bilateral batch infiltrates. The next day, the in-charge nurse reported a decreased urine output of 0. 3 ml/kg/ hour. His serum electrolytes revealed serum sodium was 115 mmol/l, chloride 98 mmol/l with low serum BUN & and creatinine. Which one of the following is the expected findings?
a) Low serum osmolality with high urinary osmolality.
b) Low serum and urine osmolality.
c) High serum and urine osmolality.
d) High serum osmolality and low urine osmolality.
Answer A
Dr Alagha 2023
250
Four-month-old infant, presented with failure to thrive. His mother was complaining of too many diaper changes and urine was leaking out of diapers most of the time. On examination, he was having, moderate to severe dehydration. His initial sodium was 175 mmol/l, urine osmolality was 105 mosmol/l, and serum osmolality was 315 mosmol/l. Which one of the following is the most common cause in the differential diagnosis of this infant?
a) Langerhans cell histiocytosis.
b) X-linked dominant nephrogenic DI.
c) DIDMOAD syndrome.
d) Psychological polydipsia.
Answer B
Dr Alagha 2023
251
Seven-year-old boy diagnosed with Langerhans cell histiocytosis presented with generalized seizures, due to hypernatremia. His serum sodium was 165 mmol/l. mother has reported that for the last 2 days, he started to go frequently to the toilet. Which one of the following is an important diagnostic investigation?
a) Repeat serum sodium every 12 hours.
b) Fasting glucose, and 2 hours postprandial.
c) Urinalysis.
d) Timed serum and urine osmolality.
Answer D
Dr Alagha 2023
252
A six-year-old boy has been diagnosed with on and off headache with blurred vision for the last 8 months. Previously was otherwise healthy. On examination, his height was below 3%, weight was at 25%. Ophthalmological examination revealed mild bilateral optic nerve atrophy. CT scan of the brain (photo). Which one of the following is the most likely diagnosis?
a) Pituitary gland hyperplasia.
b) Pituitary adenoma
c) Craniopharyngioma.
d) Meningioma
Answer C
Dr Alagha 2023
253
A 6-year-old boy is brought to your pediatric clinic by his parents with a complaint of recurrent episodes of weakness, confusion, and lethargy. His parents report that he has had these episodes several times in the past few months, and they are becoming increasingly concerned. Upon further examination, you find that the child appears dehydrated with signs of mild edema. His blood pressure is within the normal range for his age, and he has a history of viral infections in the recent past. If you suspect Child Cerebral Salt-Wasting Syndrome, how to differentiate Child CSWS from Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH)?
a) Urine sodium concentration.
b) Hypernatremia.
c) Elevated ADH levels.
d) Hyperkalemia.
Answer A
Dr Alagha 2023
254
A 10-year-old child is brought to the pediatric clinic by their concerned parent, who reports episodes of unexplained hypoglycemia. The child has experienced multiple hospital admissions and emergency room visits due to these episodes. The parent states that the child seems fine at home but suddenly becomes lethargic, shaky, and sweaty, prompting the parent to administer sugary snacks. Laboratory tests confirm hypoglycemia during these episodes. Which of the following findings is suggestive of factitious hypoglycemia rather than a genuine metabolic disorder?
a) Persistent hypoglycemia during fasting.
b) High insulin with undetectable C- peptide.
c) Low insulin-to-glucose ratio during hypoglycemia.
d) Elevated ketones in the urine
Answer B
Dr Alagha 2023
255
A 14-year-old male with T1DM for 6 years presents for follow-up. He needs to have his annual labs done. He had all appropriate screening done in the past during his usual checkups. Previous thyroid tests done yearly are normal, as are lipids done last year. Which pair of the following tests and referrals needs to be done this year due to his diabetes being present for > 5 years?
a) Microalbuminuria and ophthalmology.
b) Anti-TPO and ophthalmology.
c) Lipid profile and ophthalmology.
d) Anti-TPO and colonoscopy.
Answer A
Dr Alagha 2023
256
3 years old boy with bilateral undescended testes his penis is Normal with no sign of hypospadias but his scrotum is shallow he has been growing normally
Which of the following lab test should you order next:
• A: LH
• B:AMH
• C:TESTESTERONE
• D: TSH
Answer B
Noura
257
14 years old boy was referred for evaluation of small testes , he has been anormal appearing pubertal phallus and Tanner 4 pubic hair he is found to have karyotype of 46xx his SRY probe was –ve
What is the most likely genetic cause for his sex reversal ?
A:DAX1 duplication.
B:SF-1 mutation.
C:Sox9 duplication.
D:WNt-4 mutation.
E: WT1 mutation.
Answer C
Noura
258
You are assessing newborn with DSDthe baby has 1 cm phallus and bifid scrotum ,an apparent vaginal opening with perineal hypospadias and gonads palpable in the inguinal canal US show normal Wolffian duct and no Mullerian structure ,the baby karyotype 46xy and testosterone level post HCG administration is 379 mg\dl
• Which of the following would be the most informative next step in your work up:
• A:Test:DHT ratio.
• B:AMH level.
• C:LH\FSH Level.
• D:Gonadal biopsy.
answer A
Noura
259
Disorder of sexual development has been reported to be seen in 1:300 neonate ,of the following what is the most common disorder?
• A:Gonadal dysgenesis
• B: Hypospidias
• C:CAH
• D:Cryptorchidism.
Answer D
Noura
260
You are evaluating a2 wks newborn the parents are concerned about the size of the infant phallus , the parent describe the infant as sleepy compared with other children at this age , On examination : Infant has mild jaundice and horizontal nystagmus and SPL 1,8cm you palpate the gonad in the inguinal canal
• Of the following the most likely etiology is :
• A:Androgen insensitivity syndrome.
• B:Fetal exposure to androgen.
• C:homozygous mutation of cyp21A2.
• D:LH deficiency
Answer D
Noura
261
13 year old girl with previously well-controlled. Her inhaled steroids were not effective, and oral prednisone treatment for 4 weeks was required. After stopping the oral steroid, she was dizzy, tired, and weak. Her pediatrician contacts you with a question: How do I know if the symptoms are due to adrenal insufficiency? What should you recommend?
A:Restart the corticosteroid at the previous dose and treat for another two weeks.
B:Restart the inhaled steroid at twice the previous dose.
C:Since she has been treated for less than 8 weeks, she does not need any further testing or treatment.
D:Since she was treated for 4 weeks, she is at risk for adrenal suppression and should be tested.
Answer D
Noura
262
12 year old male has growth failure. Prior measurements indicate that he grew normally until 9 years of age when he started developing pubic hair. His growth velocity over the past year is 1.5 cm/yr. His height is — 2 SD, and his BMI at the 97% for age. His blood pressure is elevated. He has Tanner stage 4 pubic hair. His phallus is 6 cm and his testes are 1x2 cm (2 cc). Which test is most likely to reveal his diagnosis?
• A:arginine clonidine stimulation test
• B:insulin tolerance test
• C:MRI of the head
• D:celiac screen
• E:overnight dexamethasone suppression test
Answer E
Noura
263
A five day old male infant presents to your emergency room with poor feeding, dehydration and marked tachycardia. Testes are descended. Electrolytes reveal Na = 119 mEq/L, potassium = 9.1 mEq/L, CO2 = 11 mEq/L. Newborn screen 17-hydroxyprogesterone level is normal. Renal function is normal. Cortisol level is appropriately elevated at 29 mcg/dl. Sweat chloride is elevated. Through a miracle of modern technology, his aldosterone level is back in one hour and is markedly elevated at 1280 ng/dl. What is the most likely physiological defect? • A:defect in the aquaporin water channel
• B:defect in the mineralocorticoid receptor
• C:defect in an epithelial sodium channel
• D:defect in the glucocorticoid receptor
Answer c
Noura
264
A 15 year old male presents for an endocrine evaluation. His mother had a prolactinoma and died in her 20s from complications of an insulinoma. His maternal grandfather had a "neck surgery," gastric ulcers, and died of metastatic gastrinoma. The patient has been generally healthy except for mild fatigue and polyuria. Physical exam reveals a normal appearing Tanner 4 male. Which of the following tests will be the most useful next step for this patient?
• A:RET mutation analysis
• B:Parathyroid scintigraphy
• C:Calcitonin concentration
• D:Bone mineral density
• E:Simultaneous serum calcium and PTH
Answer E
Noura
265
6 year old girl presented with hypocalcemic tetany. She had been previously healthy, but has mild cognitive delay. Her diet includes two glasses of milk daily. Her height is at -2.5 SD, she is overweight, and has short metacarpals. On lab testing, her Calcium is 5.4 mg/dl, Phosphorus 9.8 mg/dl and her PTH is 374 pg/ml (normal 10-65 pg/ml). 25-0HD is 35 ng/ml (normal), and 1,25-0HD is at the upper end of normal. Which of the following is the most likely genetic explanation for her hypocalcemia?
• A:A mutation in the AIRE gene.
• B:An activating mutation in the calcium-sensing receptor
• C:An inactivating mutation in the calcium -sensing receptor
• D:An inherited inactivating mutation in a gene coding for a G protein subunit. • E:A somatic activating mutation in a gene coding for a G protein subunit.
Answer D
Noura
266
A 16-year-old boy presents to the clinic to establish care. He has no active complaints but has a strong family history of diabetes mellitus. A fasting blood glucose is 127 mg/ dL. Upon repeat testing, his fasting blood glucose is 130 mg/dL. Further workup reveals high HDL and low magnesium. Which of the following additional findings, if present, is most suggestive of maturity-onset diabetes in the young (MODY)?
• A;All family members with diabetes require large amounts of insulin
• B;Positive pancreatic autoantibodies
• C;Kidney cysts on ultrasound
• D;Elevated serum CRP levels
Answer C
Noura
267
4 year old girl is referred for consultation because of short stature. Her height is at -3.2 SDS for age and her physical exam reveals bowing of her forearms and lower legs, Madelung deformity of the wrist, short fourth metacarpals and high-arched palate. Genetic testing is ordered and identifies the etiology of this patient's short stature. Which of the following best describes the positive genetic test?
A:It can be found in 1-5% of children with idiopathic short stature.
B:It is associated with Noonan's syndrome.
C:The deficient gene is located in the pseudoautosomal region 1 on the proximal (centromeric) end of the short arms of the X and Y chromosomes.
D:Haploinsufficiency of this gene is associated with a normal phenotype.
Answer A
Noura
268
A 2-year-old girl presents with Tanner Stage 2 breast development of unknown duration. She has no galactorrhea. Her height and weight are at the 50'5 percentile, appropriate for mid-parental target. Her review of systems was negative. She has a prepubertal vaginal mucosa. Your most prudent next step would be to:
• A:Obtain FSH, LH and estradiol levels.
• B:Obtain a bone age.
• C:Obtain a pelvic ultrasound.
• D:Reassure family and no follow up necessary
• E:Find out if other siblings had a similar pattern.
Answer B
Noura
269
A 12-year-old girl with 45 X0 Turner Syndrome is noted to have Tanner Stage 2 breast development on exam. You have been treating her with growth hormone since she was 7 years old. What should you do next?
• A:Recheck her blood karyotype to confirm the diagnosis.
• B:Obtain skin biopsy to confirm the diagnosis.
• C:Check FSH and LH levels.
• D:Observe and continue GH therapy.
• E:Discontinue GH therapy.
Answer D
Noura
270
• A 6-year old girl comes to your office for evaluation of precocious puberty. Her family history is remarkable for pheochromocytoma in her father. On exam, you find that her height is at -0.8 SD. She has Tanner stage 3 breasts and pubic hair. Of the following, what is the most likely finding on an MRI of her head?
• A:Absent septum pellucidum
• B:Arnold-Chiari malformation
• C:Hypothalamic hamartoma
• D:Optic pathway tumor
• E:Pituitary adenoma
Answer D
Noura
271
• An autosomal recessive disorder that presents with hypertriglyceridemia, pancreatitis and eruptive xanthomas is caused by deficiency of which of the following enzymes:
• A:Glucose 6-phosphatase
• B:Lipoprotein lipase
• C:Hepatic triglyceride lipase
• D:Cholesterol acyl transferase
Answer B
Noura
272
A 10-year-old boy is re erred to your practice for evaluation of abnormal endocrine labs. He is otherwise healthy. The family history is remarkable for hyperlipidemia and early cardiovascular disease. His mother is 36-years-old, overweight but otherwise healthy. Father is 40-years-old, lean, and on treatment with statins for elevated LDL-cholesterol. Paternal grandfather died at the age of 45 from a myocardial infarction. The child is well appearing, Weight is in the 80th percentile, Height is in the 25th percentile. Fasting laboratories showed: Total cholesterol 350 mg/dL (9.1 mmol/L), LDL-cholesterol 260 mg/dL (6.7 mmol/L), HDL-cholesterol 55 mg/dL (1.4 mmol/L), triglycerides 150 mg/dL (2.3 mmol/L), plasma glucose 80 mg/dt.. (4.4 mmol/L), T4 7 ug/dL (90.1 nmol/L), TSH 0.6 pU/mL. Which of the following is the best management plan for this patient:
• A:Dietary modifications followed by pharmacological treatment if LDL-cholesterol persistently > 160 mg/dL (4.1 mmol/L)
• B:Glucophage (metformin
• C:Dietary counseling with no restriction in fat intake given his young age
• D:Weight loss and exercise only
• E:Levothyroxine
Answer A
Noura
273
• A teenage female presents with her mother after being referred by her pediatrician for obesity. The mother reports the patient had an additional hand digit that was surgically removed during childhood. She has been seeing an ophthalmologist frequently for progressive visual defects without much improvement. She also has some degree of learning disability. The patient's main concern today is her weight which is starting to significantly affect her mobility and functioning. She states, "I have been heavy for most of my life." Her recent lab results indicate normal thyroid and adrenal functioning. What is the mechanism of action of the medication that has been newly suggested for treating this patient's syndromic obesity?
• A:GLP-1 agonist
• B:Leptin analog
• C:MC4R agonist
• D:Amphetamine analog
Answer C
BBS
Noura
274
4-year-old child has mental retardation, shortness of stature, brachydactyly (especially of the fourth and fifth digits), and obesity with round facies and short neck. The child is followed by an ophthalmologist for subcapsular cataracts, and has previously been noted to have cutaneous, subcutaneous, and perivascular calcifications of the basal ganglia. This patient is likely to have which of the following features?
a. Hypercalcemia
b. Hypophosphatemia
c. Elevated concentrations of parathyroid hormone
d. Advanced height age
answer C
Dr yahya
275
A 15 y/o girl who is hirsute has had menses six times in the past year. She is overweight (body mass index of 35 kg/m2) and has a blood pressure of 110/75 mm Hg. Her cholesterol concentration is 170 mg/dL (4.4 mmol/L), with a high-density lipoprotein cholesterol concentration of 55 mg/dL (1.4 mmol/L) and fasting triglyceride value of 74 mg/dL (0.84 mmol/L). Her fasting blood glucose value is 108 mg/dL (6.0 mmol/L), and a 2-hour post-oral glucose blood glucose value is 115 mg/dL (6.4 mmol/L).
Of the following, the MOST likely diagnosis for this patient is
A. idiopathic hirsutism
B. impaired glucose tolerance
C. cushing syndrome
D. metabolic syndrome
E. polycystic ovary syndrome
Answer E
Dr yasser
276
A 15 y/o adolescent who was recently started on Tretinoin cream for acne by her dermatologist and diagnosed with polycystic ovary syndrome. She had onset of menses at 11 years of age and was regular for 2 years, but has had 2 menstrual periods over the last 12 months.
Her physical examination shows a BMI of 35 kg/m2 and severe nodulocystic acne on her face and chest, but no hirsutism.
Of the following, the BEST next step in her evaluation is:
A. free testosterone
B. GnRH stimulation test
C. LH and FSH at 8 AM
D. LH and FSH at midnight
E. LH level at 8 AM
Answer A
Yasser
277
A 15 m/o girl presents for evaluation of short stature and slow growth. She was born FT, with a birth Wt of 2.8 kg. Her mother used heroin during pregnancy. The child has been in her father's custody since age 3 months. Slow growth was first noted at 6 months of age. Developmentally, she can stand with assistance, has 4 word. She is otherwise healthy. Her mother's Ht is 160 cm, and her father's Ht is 193 cm. Her length is 57 cm (-6.3 SD) and weight is 5.9 kg (-6.0 SD). Her blood pressure is 63/40 mm Hg, and pulse rate is 114 bpm. She has mild frontal bossing and some midfacial hypoplasia. She has increased adiposity in the abdomen. She shows good attachment to her father and normal stranger anxiety.
Lab: GH 0.28 ng/mL (0.1-6.0 ng/mL), IGF-1 <25 ng/mL (56-144 ng/mL), IGFBP-3 0.1 mg/L (0.8-3.0 mg/L), GHBP = 476 pmol/L (125-762 pmol/L), FT4 0.28 ng/dL (0.9-2.6 ng/dL), TSH 0.55 mIU/L (0.5-5.0 mIU/L), Prolactin <0.5 ng/mL (3.0-24.0 ng/mL), Cortisol 15.5 µg/dL (3.0-21.0 µg/dL), Karyotype = 46,XX, MRI of the brain shows a normal pituitary gland.
Which of the following is the most likely diagnosis?
A. Congenital hypopituitarism due to POU1F1 mutation (formerly PIT1)
B. Laron dwarfism
C. Congenital hypopituitarism due to PROP1 mutation
D. Psychosocial dwarfism
E. Congenital hypopituitarism due to LHX3 mutation
Answer A
Dr yasser
278
A 16 year old patient previously healthy presents with primary amenorrhea, no breast development, normal female appearing external genitalia, hypertension, and elevated gonadotrepin levels.
Of the following choices, which is the most likely diagnosis?
A. nonclassical 3B-HSD deficiency
B. combined 17-OH/17,20 lyase deficiency
C. P450 Oxidoreductase deficiency
D. StAR deficiency
E. P450 aromatase deficiency
Answer B
Yasser
279
A 16 year old patient previously healthy presents with primary amenorrhea, no breast development, normal female appearing external genitalia, hypertension, and elevated gonadotrepin levels.
Of the following choices, which is the most likely diagnosis?
A. nonclassical 3B-HSD deficiency
B. combined 17-OH/17,20 lyase deficiency
C. P450 Oxidoreductase deficiency
D. StAR deficiency
E. P450 aromatase deficiency
Answer c
Yasser
280
A 2 m/o girl presents to your clinic with a chief concern of a "bone problem." The infant was the 34 wk product of a pregnancy complicated by preeclampsia, and after delivery she spent 3 weeks in the special care nursery for feeding issues. While in the nursery, the baby was noted to have laboratory abnormalities and was started on twice-daily phosphorus supplements, which she continues to take. Her parents state that she is feeding well and taking a combination of breastmilk and formula. The patient's mother recalls taking a powdered supplement several times per day as a child and seeing a doctor frequently for "problems with her legs.”
Lab: Ph 3.4 mg/dL (4.8-7.4 mg/dL), Ca 9.7 mg/dL (8.5-10.5 mg/dL), Cr 0.3 mg/dL (0.2-0.6 mg/dL), Alk ph 657 U/L (70-250 U/L), 25-OH D 47.4 nmol/L (49.9-199.7 nmol/L), PTH 110 pg/mL (16-87 pg/mL), 1,25-Di OH D 21 pg/mL (19-87 pg/mL)
This patient's presentation is most likely due to which one of the following?
A. Mutation in the gene encoding the vitamin D receptor
B. Vitamin D deficiency
C. Mutation in the gene encoding the type II renal sodium-phosphate cotransporter
D. Fibroblast growth factor 23 excess
E. Mutation in the gene encoding type X collagen
Which of the following describes the most appropriate laboratory interpretation and clinical intervention?
A. 25-Hydroxyvitamin D is low, start cholecalciferol
B. PTH is elevated, start supplemental calcium
C. Phosphorus is low, increase the dosage of phosphorus supplements
D. Alkaline phosphatase is elevated, start supplemental calcium
E. 1,25-Dihydroxyvitamin D is low, start calcitriol
Answer D , E
Yasser
281
A 3 y/o girl presents to the ER after having a seizure in the early morning. On arrival to the ER, her blood
glucose level was 32 mg/dL and her urine ketones were mildly positive. After receiving intravenous
dextrose, her blood glucose level was 92 mg/dL. The child was sleepy, but arousable. Her physical
examination is unremarkable, except for hyperpigmentation of her palmar creases. The past medical
history is remarkable for an episode of meningococcemia with severe hypotension 3 months ago.
Of the following, the test that would be MOST helpful in determining the cause of hypoglycemia in this
child is
A. serum acylcarnitine profile
B. serum cortisol
C. toxicology screen
D. urine organic acids
E. very long chain fatty acid profile
Answer B
Yasser
282
A 6 d/o male neonate arrives at the ER with lethargy. He was born full term with no perinatal complications and was discharged home on day 2 after birth. Initially, he was waking every 3 hours and consuming 90 to 120 mL at each feeding. However, over the last 36 hours, he has been eating only 30 to 60 mL every 5 hours and has become more lethargic. On examination, the infant has sunken fontanelles, poor capillary refill, and dry mucous membranes. He has lost 0.3 kg of weight since birth. There is no evidence of hyperpigmentation or genital ambiguity. The newborn undergoes fluid resuscitation and a full sepsis workup. The serum chemistry panel drawn in the ER reveals the following levels: Na 122 mEq/L; K 7.6 mEq/L; and glucose 64 mg/dL.
Additional bloodwork is done, with results revealing the following: 17α-OHP 95 ng/dL, Renin activity 16,100 ng/dL/h, Cortisol 22.1 µg/dL (609.7 nmol/L), Aldosterone 1,171 ng/dL (32,500 pmol/L)
The infant's clinical status improves after fluid resuscitation, and all cultures are negative for microorganisms. However, serum sodium levels continue to be low. A renal ultrasound scan is normal.
Of the following, the BEST additional test to perform to establish the diagnosis is
A. ACTH stimulation test
B. sodium-loading test
C. sweat chloride test
D. voiding cystourethrogram
Answer C
Dr yasser
283
neonatologist calls to discuss a 1-day-old baby. The baby was born at 36 weeks gestation to a pregnancy complicated by maternal hypothyroidism. The neonatologist met with the mother and discovered that her hypothyroidism resulted from treatment with I-131 for Graves disease 5 years prior to her pregnancy. Laboratory testing performed in the mother at 23 weeks gestation showed a negative thyrotropin receptor antibody. She was treated for hypothyroidism during this pregnancy with careful monitoring and titration of her levothyroxine dose. Of the following, the next BEST step in the management of this baby is:
A. no testing required
B. obtain serum for TSH and T4 in the baby
C. test the baby for thyrotropin receptor antibody
D. test the mother for thyrotropin receptor antibody
Answer A
Dr Nada
284
3-year-old girl arrives at the clinic for evaluation of short stature. On physical examination, substantial bowing of both legs is noted. Radiologic findings demonstrate rickets. Laboratory test results are remarkable for the following: Calcium 10.2 mg/dL (2.55 mmol/L) Phosphorus 3.2 mg/dL (1.03 mmol/L) (normal is 3.4 to 4.5 mg/dl) (1.12 to 1.45 mmol/L) Alkaline phosphatase 663 U/L Urine calcium-to-creatinine ratio 0.57 (normal is less than 0.2) PTH 16 pg/mL (normal 11-51 pg/mL) 25-OH vitamin D 36 ng/mL (89.86 nmol/L) 1,25 (OH)2 vitamin D 112 pg/mL (normal 18-78 pg/mL )
Of the following, the BEST counseling regarding this condition is
A.The disease is inherited in an autosomal dominant fashion
B.The patient is at risk of kidney stones
C.The patient is at risk of peripheral precocious puberty
D.Treatment of this process includes calcitriol
Answer B
Nada
285
A 1-month-old infant presents for evaluation of hyponatremia. The infant was born at term from a pregnancy that was complicated by oligohydramnios. The infant had been seeing her paediatrician for evaluation of poor weight gain, but presented to the emergency department with lethargy. Her physical examination is significant for blood pressure 63/33 mm Hg and heart rate 180 beats/min. She is lethargic and has normal female external genitalia. An electrolyte panel demonstrated a sodium level of 121 mmol/L and a potassium level of 7.3 mmol/L.
Of the following, the test that would MOST likely identify the underlying etiology of the baby's clinical presentation is:
A-Corticotrophin stimulation test
B-Genetic testing of the CYP21A2 gene
C-genetic testing of the WNK1 gene
D-Renal ultrasound
Answer D
Nada
286
A 5-year-old girl is being seen for evaluation of premature pubarche. The mother reports that her daughter had body Odor and a few sparse pubic hairs first noted approximately 1 year ago, and that the pubic hair has increased over the last 2 or 3 months. On physical examination, the girl has some open comedowns on her nose and forehead, sparse axillary hair, and Tanner stage III pubic hair development. She is at Tanner stage I for breast development. The girl's bone age is interpreted as 8 years 10 months. Early morning fasting bloodwork is ordered.
Of the following, the result that is MOST likely for this patient is
A.elevated plasma renin activity
B.low 17-hydroxypregnenolone level
C.normal cortisol level
D.normal DHEA-S
Answer C
Dr Nada
287
13 year-old boy is being evaluated for micropenis and poor growth. As an infant, he was seen by an endocrinologist, who asked that the boy return to the clinic at puberty. His mother reports that he was born at term, and micropenis and bilateral undescended testes were noted at birth. He received 3 weeks of hCG injections and underwent bilateral orchidopexy during infancy. He is healthy but has learning difficulties, a history of autism and attention deficit disorder, and has been receiving a stimulant medication from the age of 9 years.
On examination, he has normal eye movements and normal results of fundoscopy. Genital examination reveals Tanner stage 2 pubic hair, penile length of 2 cm and width of 0.9 cm, urethral meatus at the tip, and bilateral testes of 1 mL in volume located in the scrotum. His bone age is 11½ years.
Of the following, the abnormality that a genetic evaluation will MOST likely reveal is:
A.chromosomal mosaicism with 46,XY/45,X
B.Hemizygous mutation of the ANOS1 gene
C.Homozygous mutation of the HESX1 gene
D.Increased CGG repeats in the FMR1 gen
Answer C
Nada
288
A 7-year-old boy who is admitted to the hospital because of hypoxia and chronic lung disease is being seen by an endocrinologist because of his short stature . He is in the first grade and does well in school, although he has had frequent absences because of severe respiratory tract infections. On physical examination, eczematous lesions cover his entire body. A preliminary workup is done and demonstrates the following results: IGF-1 level of 29 ng/mL (45 – 215ng/ml), IGFBP-3 level of 0.926 mcg/ml( 3.4 and 7.2 mcg/ml), and a radiograph indicating a bone age of 4 years.
Of the following, this boy is most likely to have an inactivating mutation in which gene?
A.GH1
B.GHR
C.IGF1
D.STAT5b
Answer D
Nada
289
You are evaluating a 3-month-old infant with ambiguous genitalia who has come to you for a second opinion. The infant was noted to have ambiguous genitalia at birth. The mother was a 24-year-old primigravida with an unremarkable antenatal history. The baby was delivered vaginally at term, and the parents were told their child was a boy. Family history is unremarkable. Physical examination reveals a healthy infant with no dysmorphic features other than the ambiguous genitalia. Examination of the external genitalia reveals a bifid scrotum, with masses in the inguinal canals bilaterally. The urethral meatus is present at the base of the phallus. There is no hyperpigmentation. A laparoscopy revealed a uterus with a streak gonad on the right and
a dysgenetic testes on the left.
Of the following, the MOST likely test result is
A.45,X/46,XX (SRY negative)
B.45,X/46,XY (SRY positive)
C.46,XX (SRY positive)
D.46,XY (SRY negative)
Answer B
Nada
290
A 10-year-old girl presents with a history of hypocalcaemia and hyperphosphatemia detected at the time of a routine examination. Her physical examination reveals short stature (height less than 1st percentile), BMI >99th percentile, round facies, short low-set nasal bridge, short metacarpals on the fourth and fifth fingers bilaterally, and a positive Chvostek sign. She has a history of learning disabilities.
Of the following, the MOST likely finding associated with this girl's condition is:
A.Cutaneous nodules
B.Early onset of candidiasis
C.Hypercalciuria
D-Paternal inheritance
Answer A
Nada
291
1 year-old girl presents for evaluation of growth. She was born at 36 weeks due to maternal preeclampsia. She weighed 1.2 kg, was 40 cm long, and her head circumference was 33 cm at birth. She was hospitalized for her first 3 weeks and discharged when she was gaining weight and feeding well. Her height is now at the 5th percentile and her weight is at the 25th percentile. Her physical examination is normal.
Of the following, she will be MOST at risk for:
A.Asymmetric limb growth
B.Cognitive impairment
C.Growth failure
D.Insulin resistance
Answer D
Nada
292
A 4-and-9/12-year-old boy presents for initial evaluation of poor growth and short stature. He is full term of gestation with a birth weight of 3.5kg . He describes leg pain while bearing weight and has an unstable gait with frequent falls. He has not sustained any fractures. His first tooth erupted at 18 months of age, and his primary dentition was completed at 4 and 6/12 years of age.. He has been taking vitamin D supplements for the last 4 months, as suggested by his paediatrician, with no symptomatic relief and no improvement in growth. On physical examination, he is below the 3rd percentile for height and is at the 5th percentile for weight. His vital signs are normal. Laboratory tests ordered by his paediatrician 2 weeks ago document the following results: Serum calcium = 4.6 mg/dL (8.8-10.8 mg/dL) Serum phosphate = 3.1 mg/dL (3.8-5.8 mg/dL) Alkaline phosphatase = 1685 IU/L (100-320 IU/L) Total 25-hydroxyvitamin D =>NL, 1, 25-dihydroxyvitamin D => lower normal ,PTH =124pg/ml (10-65 pg/ml) Which of the fallowing appropriate management
A.Calcium supplementation with high dose ergocalcefirol B. Calcium and calcitrol C.Phosphate and calcitrol
Answer B
Nada
293
A 13-year-old girl is being evaluated for hypercholesterolemia. Her physical findings are remarkable for flat, dark lesions in the interdigital areas and swellings at the insertion of her extensor tendons Results of her physical examination are otherwise normal, including her BMI Her family history includes hypercholesterolemia and premature cardiovascular disease. Her father underwent a coronary artery stent placement at age 45 years and is being managed with atorvastatin
Her mother has not checked her cholesterol level. The maternal grandmother had a myocardial infarction and stent placement at age 52 and died suddenly at 53 years of age.
Of the following, the MOST likely inheritance of this patient's condition Is
A.clustering of multiple genetic variants
B.Heterozygous, autosomal dominant
C.Homozygous, autosomal dominant
D.Homozygous, autosomal recessiv
Answer C
Nada
294
A 10-year-old girl with growth deceleration is diagnosed with Turner syndrome. Her height is at the 1st percentile.
Of the following, the MOST appropriate intervention for her growth would be to:
A.begin oxandrolone therapy
Monitor her growth over the next 6 months
Prescribe transdermal oestradiol
D.start growth hormone therapy
Answer D
Nada
295
A paediatrician calls to review the growth pattern and bone age radiograph of an 11- year-old girl he recently saw. He reports she had linear growth along the −2.2 height standard deviation score (SDS) from 4 to 10 years of age, but her height measured at the −2.5 SDS at last week's office visit. Her weight has been consistently near −1.8 SDS and her BMI SDS has been close to 0. The child's mother and father are 157.5 cm (62 in) and 170.2 cm (67 in) tall, respectively. The girl is prepubertal. The paediatrician reports she is fairly healthy, does not take any medications, and is an average student. As part of the paediatrician's initial evaluation, a bone age radiograph was obtained
Of the following genes, the one that is most likely to explain her growth pattern is
A.GNAS1
B.IGF1
C.PTPN11
D.SHOX
Answer D
Nada
296
15-year-old male adolescent is referred to an endocrinologist for evaluation of his growth pattern in figure . He is healthy, but his parents mention that he was incidentally diagnosed with a single kidney after he underwent ultrasonography at 8 years of age for evaluation of abdominal pain. His noteworthy physical findings are 4-mL testicular volume and Tanner stage III pubic hair development
Of the following, the test that would be MOST helpful in establishing the diagnosis for this patient is
A.AMH level
B. Brain MRI
C.Karyotype
D.Testosterone level
Answer B
Kallman syndrome
Nada
297
You are called to the neonatal intensive care unit to consult on a 4- day-old term neonate with hypoglycaemia. He was born via spontaneous vaginal delivery after an uneventful pregnancy. His birth weight was 4.2 kg. He was noted to have seizure-like activity in the delivery room and finger-stick blood glucose was 19 mg/dL (1.1 mmol/L). This was confirmed with a serum glucose. Additional laboratory results show undetectable serum ketones and a rise in glucose from 35 mg/dL to 70 mg/dL (1.9-3.9 mmol/L) after administration of intravenous (IV) glucagon. Despite treatment with IV dextrose at 25 mg/kg per min and diazoxide 15 mg/kg per day, he is still hypoglycaemic, with blood glucoses in the 30 mg/dL to 50 mg/dL (1.7-2.8 mmol/L) range.
Of the following, the BEST next step in the management of this neonate is
A. continuous infusion of esmolol
B. continuous video monitoring
C. oral dexamethasone
D. subcutaneous octreotide therapy
E. sub-total pancreatectomy
Answer D
Nada
298
A 6-year-old girl is referred for vaginal bleeding of 1 to 2 days' duration. Her mother reports this also happened when her daughter was 4, but at the time she thought it was due to trauma from horseback riding. The child's medical history is unremarkable other than a large birthmark on her right buttock and recurrent sinusitis. On physical examination, her height and weight are at the 95th and 50th percentiles, respectively. She has an irregularly outlined café-au-lait spot on her right buttock measuring 2.3 x 2.8 in (5.8 cm x 7.1 cm) in largest dimensions. She has a single breast bud of 0.4 in (1 cm) on the right side, and her pubic hair is Tanner stage 1. Her bone age is 6 and 10/12 years, and pelvic ultrasonography shows a large cyst, 4-cm in diameter, on the right ovary. Laboratory test results:
Estradiol = 25 pg/mL (91.8 pmol/L) (reference range, <1 ng/mL [<1 µg/L])
Which of the following is the best next step?
A. Order genetic testing to identify an activating mutation in the Gs alpha subunit gene (GNAS)
B. Refer her to surgery for removal of the ovarian mass
C. Arrange for neurosurgery consult to perform transsphenoidal surgery for GH excess
D. Prescribe pegvisomant, a GH receptor antagonist, to be administered monthly
E. Perform a bone scan to look for fibrous dysplasia
Answer E
Dr Nada
299
6-year-old boy with gonadotropin-dependent sexual precocity has transferred to your practice. He received his initial diagnosis at age 3 years. At that time, he was noted to have 4- to 6-mL testes, Tanner stage 3 pubic hair,
His bone age was 6 years. He is currently being treated with long-acting GnRH agonist therapy.
The family is concerned that he still has pubic hair, his testes are not “small,” and he has an occasional pimple and body Odor.
Which of the following is the best test to determine the effectiveness of
his therapy?
A. Serial bone age evaluations
B. Serial physical examinations
C. LH measurement
D. Testosterone measurement
E. GnRH agonist stimulation testing
Answer E
Nada
300
5 years old boy not known to had chronic illness presented with 2 day mild URTI symptom the ER physician order Lab work for him that showed Na 135 , K 4 , Ca 2.7 ,Phosph 2.4 ,PTH 72 pg/mL (RR, 8 to 97 pg/mL) urinary calcium to creatinine clearance ratio <0.01 positive family hx his father had same lab result ?
A- AIRE
B- WBS
C- AP2S1
D- TBX1
Answer C
Yahya
301
You received a call from colleague in primary care that he had patient 5y old with picture of query adrenal insufficiency, They recently arrived from summer vacation in United State 1 week ago and asking for your advice, you suggest to him that he can do HPA axis assessment after ?
A- 5 days
B- 15 days
C- 25 days
D- 30 days
Answer B
Yahya
302
Which of the following hypophosphatemic rickets you should advice him to avoid using calcitriol Supplement :
A. X-LINKED Dominant Hypophosphatemic Rickets PHEX.
B. Autosomal Dominant Hypophosphatemic Rickets FGF23.
C. Autosomal Recessive Hypophosphatemic Rickets with hypercalciuria SLC34A1.
D. Autosomal Recessive Hypophosphatemic Rickets DMP1.
Answer C
Yahya
303
Which of the following false regarding delay puberty in boy :
A- Hyperprolactinemia can lead to hypogonadism .
B- CDGP approximately 65% of boy and 30 % of girl .
C- Absence of testicular enlargement later than age of 16 year defined delayed puberty .
D- Fifty percent to 80 % of variation of timing of puberty due to genetic factors .
Answer C
Yahya
304
Which of the following false regarding puberty in Girl :
• A- AMH level are less sensitive indicator of ovarian failure than FSH .
• B- In partial ovarian failure do not have high baseline gonadotropin level .
• C- Lack of thelarche by age at 13 years consider delayed puberty .
• D- Failure of menses to occur within 3 years consider delayed puberty .
Answer D
Yahya
305
14-year-old girl, was brought by her parents to the clinic for amenorrhea for 6 months. She attained menarche at 12 years old. Her menstruation cycle had been regular, The parents also complained that she had been dieting since seven months prior to the clinic visit , clinical examination revealed a thin girl with a body weight of 35.9 kg, height 152 cm and body mass index (BMI) of 15.5 kg/ m2 , that of the following expected for her ?
A- Risk of death is increased approximately 2 fold .
B- Weight change leading to cessation or restoration of menstrual cycle are 10-15% of body weight .
C- Recovery is achieved as body fat above 20 % .
D- Leptin level are significantly increase and contribute to gonadotropin deficiency .
Answer A
Yahya
306
14-year-old girl, was brought by her parents to the clinic for amenorrhea for 6 months. She attained menarche at 12 years old. Her menstruation cycle had been regular, The parents also complained that she had been dieting since seven months prior to the clinic visit , clinical examination revealed a thin girl with a body weight of 35.9 kg, height 152 cm and body mass index (BMI) of 15.5 kg/ m2 , that of the following expected for her ?
A- Risk of death is increased approximately 2 fold .
B- Weight change leading to cessation or restoration of menstrual cycle are 10-15% of body weight .
C- Recovery is achieved as body fat above 20 % .
D- Leptin level are significantly increase and contribute to gonadotropin deficiency .
Answer B
Yahya
307
13 years old girl known case of type 1 diabetes on insulin aspart and glargine SC , normal thyroid function test , her A1C 9% and her lipid profile showed LDL 200 mg/dl , no family hx of CVS or dyslipidemia , The goal of therapy is an LDL cholesterol value for this patient is :
• A - < 100 mg/dL (2.6 mmol/L).
• B - < 110 mg/dL (2.8 mmol/L).
• C- < 130 mg/dL (3.3 mmol/L).
• D - < 160 mg/dL (4.1 mmol/L).
Answer A
Yahya
308
4 years old girl case of 21 CAH diagnosed in neonatal period with salt she is on hydrocortisone and fludrocortisone with good compliance , The most common apparent point mutations that causes CYP21A deficiency are :
• A- Microconversion
• B- Macroconversion
• C- Gene duplications
• D- Gene deletion
Answer A
Yahya
309
9 years old boy case of micropenis bilateral palpable gonads with positive family hx of amenorrhea his sister, his electrolyte and cortisol level normal, LH elevated, FSH normal, testosterone low and failed to raise with HCG stim test his defect in that genes:
• A- DHCR7
• B- LHCGR
• C- NROB1
• D-SRD5A2
Answer B
Yahya
310
which of the following hormone will stimulates lipolysis ?
• A- Insulin
• B- Cortisol
• C- Glucagon
• D- Epinephrine
Answer D
311
2 week old baby girl had extensive cleft lip and palate and spiky hair her TSH 110 mU/L and FT4 8 pmol/L , thyroid I 123 showed no uptake , defect most likely in :
• A- NKX2.1
• B- FOXE1
• C- PAX-8
• D- GLIS3
Answer B
Yahya
312
24-month-old boy, born from non-consanguineous healthy parents, with severe motor and cognitive delay and global hypotonia, being unable to hold head upright or sit without support. Deep tendon reflexes were absent bilaterally at the ankles . her lab
• T3 level 4.84 nmol/L, (0.63-3.90) • free T4 level 8.2 pmol/L, (9.1 - 25.0)
• TSH level 3.54 mUI/L, (0.3 - 4.5)
• That defect most likely :
• A- MCT8
• B- RTHA
• C- RTHB
• D- SBP2
Answer A
Yahya
313
16-year-old girl is being seen in your clinic because of headaches for the past month that sometimes awaken her at night. At her last visit 2 years ago, she was well, 157 cm tall, and weighed 47 kg , with Sexual Maturity Rating (SMR) 4 breast development and SMR 4 pubic hair ,but she had not reached menarche. On examination at this visit, she is 157 cm tall, weighs 49.8 kg , and still has not begun menstruating. On evaluation, you note bitemporal visual field deficits ,perhaps worse on the left. In addition to magnetic resonance imaging and an ophthalmologic evaluation, the laboratory test that is MOST likely to be most diagnostically revealing is :
A. Adrenocorticotropic hormone
B. Thyroid-stimulating hormone
C. Luteinizing hormone
D. Prolactin
Answer D
Yahya
314
You are asked to evaluate a 1-day-old infant who has mild clitoromegaly and palpable masses in the labial folds bilaterally. Chromosome studies reveal that the infant has an XY karyotype. Of the following, additional history is MOST likely to reveal that the infant's:
• A. Father was exposed to pesticides.
• B. Maternal aunts are infertile.
• C. Mother took androgens during the pregnancy.
• D. Mother took progestogens during the pregnancy • E. Paternal aunts and uncles are infertile
Answer B
Yahya
315
9 years old girl with short stature ,prominent forehead , with pubertal stages 2 , his Ht (−2.3 SDS ) - GH levels increased markedly after provocation test (38.5 ng/ml). - IGF-I levels (33, normal range 20–855 ng/ml) - IGFBP-3 (0.2, normal range 1.4–7.6 mg/l) - GHBP levels were normal.
Which defect may suggest the presentation of patient :
A- GHR
B- IGFIR
C- Stat5p
D- IGFALS
Answer D
Yahya
316
SAVAGE AND ROSENFELD devised a scoring system for evaluation short stature for the diagnoses of GHRD based on five parameters that one match with the parameters :
• A-basal serum Gh greater than 3 ng/dl
• B-IGF-1 less than or equal to 30ng/ml
• C-Height SD scores less than -2
• D-Serum GHBP less than 10%
Answer D
Yahya
317
Which one of the following causes of monogenic hyperinsulinism is secondary to gene activation nutation ?
A.SLC16A1
B.UCP-2
C.HADH
D.KCNJ11
Answer A
Yahya
318
15-year-old girl presented with recurrent headaches , occasional blurry vision, periodic white discharge from the left nipple, and primary amenorrhea. Family history was notable for maternal breast cancer. On physical examination, patient was Tanner stage 5 for both pubic hair and breast development and all cranial nerves were grossly intact. Initial laboratory results were as follows: prolactin 1070.0 ng/mL (reference, 3.2-20.0 ng/mL), testosterone 31 ng/dL (reference, < 40 ng/dL), thyroid-stimulating hormone 1.16 mIU/L (reference, 0.50-4.30 mIU/L), and free thyroxine 0.79 ng/mL (reference, 0.9-1.4 ng/mL). Initial magnetic resonance imaging revealed an expansile, heterogeneously enhancing mass occupying the sella, most compatible with a pituitary macroadenoma (>1.2 cm ) your next step in management this patient :
• A - Strat her on octreotide SC injection .
• B - Start her on dopamine receptor agonist medication .
• C - Start her on dopamine receptor antagonist medication
• D - Start her on levothyroxine PO daily .
Answer B
Yahya
319
14 years old girl had hx of sever head trauma 5 years ago , presented with short stature, her brain imaging showed defect in the pituitary gland and her condition confirmed with the stimulation test , what kind of receptors that hormone causing her short stature ?
A - G coupled protein receptor
B - Cytokine receptor
C - Tyrosine kinase receptor
D – Nuclear receptor
Answer B
Yahya
320
16-year-old girl comes to the emergency department (ED) with a 2-day history of multiple episodes of diarrhea and vomiting. About a year ago, she was diagnosed with Graves disease. In the ED, her vitals are temperature, 38.8°C; heart rate, 135 beats/min; and blood pressure, 140/60 mm Hg. On examination she is noted to be dehydrated and agitated. She has hand tremors and pedal edema .She is regularly taking methimazole, 10 mg, 3 times a day. The pediatric endocrinologist is consulted over the telephone by the ED physician who has stabilized the patient's condition and sent samples for thyroid function tests. The β-hCG is negative, blood glucose is 72 mg/dL (4 mmol/L), and the WBC is15,000/μL (15x109/L) with a normal hematocrit.
• Of the following, the next best step in the management of the patient is:
A. Consult an ear nose and throat surgeon for immediate thyroidectomy
B. Increase the dose of methimazole
C. Lugol iodine
D. Propranolol
E. Radioactive uptake and ablation Correct
Answer D
Yahya
321
5-year-old boy, born of non-consanguious parents, presented with whitish nodules over both gluteal regions and knees, There was no history of abdominal pain, chest pain, vomiting, photosensitivity reactions or bone pains. Examination revealed a child of medium build, with weight 15 kg and height 102 cm , ECG and chest radiogram were normal. Serum cholesterol was 840 mg/dL. Lipid profile showed a marked increase in LDL, ß-lipoproteins, triglycerides and chylomicron levels and decreased HDL levels diagnosis of familial hypercholesterolemia was made, on atorvastatin 20 mg per day and diet his LDL level still uncontrolled >300mg/dl(7.7mmol/L), your advice ?
• A- Shift him to simvastatin 40 mg per day PO .
• B- Add gemfibrozil.
• C- Add evolocumab.
• D- Continue same dose of atorvastatin
Answer C
Yahya
322
- 2 month old boy refer due to ambiguous genitalia, karyotype is XY on examination, no skin stigmata, hypospadias no palpable gonads , pelvic US no mullerine structure no gonads , had 17HOP was low Na121 K 6 your most likely diagnosis is?
A-FOXL2
B-HSD3B2
C- NR0B1
D- CYP17A1
Answer C
Yahya
323
4 year old girl had bilateral breast enlargement and spotty vaginal discharges associated with bone pain . On examination had Café-au-lait skin pigmentation . Her basal pubertal investigations revealed Estradiol 70 pg/ml , which of the following statement explained for this condition ?
A- This condition caused by pre-zygotic somatic mutation in the gene GNAS 1 on chromosome 20 .
B-Start her on leuprolide acetate injection Q 3 -4 week .
C-Send urine for maximal tubular reabsorption of phosphorus per GFR (TmP/GFR) .
D- polyostotic fibrous dysplasia PFD are commonly underwent to sarcomatous transformation in this condition .
Answer C
Yahya
324
14 years old teenager referred for evaluation of poor linear growth . He denies voice deepening , acne, facial hair, axillary hair, or pubic hair. He exercises every day with his schools cross country team. He recently been making dietary changes to become more lean. He admits to occasional symptoms of lightheadedness and fatigue.
O/E his blood pressure is 96/70 his pulse rate is 52. He Has no acute distress but is thin. On genitourinary examination, he is at Tanner stage 1 with 3 ml Testicular volume bilaterally.
Of the following The most likely finding on Laboratory evaluation:
A. Fasting Serum Glucose level of 48 mg/dl
B. Morning Cortisol of 2.1 ug/dl ( 57.93 nmol/L)
C. Peak Stimultaed Growth Hormone level of 16.3 ng/ml
D. TSH of 15 mlU/ml
Answer C
Malaekkah
325
A 14-year-old girl who recently started using continuous glucose monitoring reports a discrepancy between her sensor readings and results from her blood glucose meter. Because of the discrepancy, her monitor alarm does not signal when her blood glucose falls into the hypoglycemic range. Type 1 diabetes mellitus was diagnosed at age 4 years, and she was treated with insulin injection therapy until age 12 years when she started using an insulin pump. She began continuous glucose monitoring in an effort to reduce her hemoglobin A1C to target. Her most recent hemoglobin A1c measurement is 7.5%. She changes the sensor according to the recommended schedule. A review of her sensor tracings reveals that her sensor readings lag behind her fingerstick readings by 20 to 30 minutes when her blood glucose concentrations decrease. Which of the following should improve the ability of the continuous glucose monitor to alert the patient to episodes of hypoglycemia?
■ A. Change the sensor more frequently
■ B. Change the site of the sensor application
■ C. Increase the calibration frequency for the sensor
■ D. Lower the low-alarm threshold level
■ E. Raise the low-alarm threshold level
Answer E
Malaekkah
326
A 14 -year-old girl presents for management of type 1 diabetes mellitus with an A1c 6.7. The numerical results of her ambulatory glucose profile are shown (see image below).
■ Which of the following is the correct interpretation of this patient's ambulatory glucose profile?
■ A. Her overall glycemic control meets recommended targets
■ B. She has acceptable glucose variability
■ C. She has excessive hyperglycemia
■ D. She has excessive hypoglycemia
■ E. The mean glucose value is consistent with her A1c
Answer C
Malaekkah
327
A 14 -year-old boy with type 1 diabetes mellitus is seen for preoperative evaluation. He has no known diabetes-related complications, and a recent creatinine measurement was normal. Surgery is scheduled to correct a deviated septum. The procedure will be performed under general anesthesia and is likely to last about 1.5 hours. He uses an insulin pump and a continuous glucose monitor (nonhybrid closed loop). His total basal insulin dose is 20 units daily, with an insulin-to-carbohydrate ratio of 1:10, a sensitivity factor of 40 mg/dL a target glucose value of 120 mg/dL (6.7 mmol/L). Review of the sensor data shows infrequent nocturnal hypoglycemia about once a month.A1c measurement 4 weeks ago was 6.6% (49 mmol/mol). He would like assistance in adjusting insulin therapy preoperatively.
■ Which of the following would be the most reasonable approach to insulin delivery perioperatively?
■ A. Continue pump use throughout the procedure
■ B. Continue pump use, but start a temporary basal rate at 75% of the usual rate the morning of the procedure
■ C. Discontinue pump use the morning of the procedure and inject insulin glargine, 10 units; use correction dosing 1:40 as needed.
■ D. Discontinue pump use the morning of the procedure and initiate an intravenous insulin drip
■ E. Discontinue pump use the evening before the procedure and inject insulin glargine, 20 units; use an insulin-to-carbohydrate ratio of 1:15 for the evening meal with 1:40 correction dosing
Answer B
Malaekkah
328
15-year-old boy with type 1 diabetes mellitus (T1DM) is scheduled for an appendectomy the following morning. His usual regimen includes a basal-bolus insulin therapy with glargine as basal insulin and lispro for mealtime and corrections. On the morning of the surgery, the surgical team asks about insulin adjustments. Which of the following is the MOST appropriate management strategy for his basal insulin on the day of the surgery?
A. Omit the morning dose of glargine entirely.
B. Administer the full usual dose of glargine in the morning.
C. Reduce the morning dose of glargine by 50%.
D. Replace the morning dose of glargine with regular insulin and adjust dose based on blood glucose readings.
Answer C
Malaekkah
329
A 10 -year-old girl with a history of type 1 diabetes mellitus comes to clinic for routine follow-up. She is on carbohydrate counting and had been doing well on multiple daily insulin injections (hemoglobin A1c= 7.2 % ). She started using a new insulin pump 1 month ago and returns for reevaluation. She is on a hybrid closed-loop insulin pump. Her device is downloaded to show data from the last month. The dashboard shows a mean glucose value of 180 mg/dL with 57% time in range (70-180 mg/dL ) . The algorithm is in use 92% of the time. On average, 60% is basal insulin (including automated basal), 19% is food bolus insulin, 9% is self-administered correction insulin, and 12% is automated correction insulin.
■ Which of the following is the most likely reason she has not achieved a lower mean glucose concentration?
■ A. Her insulin sensitivity factor must be adjusted
■ B. Her total daily insulin dose programmed in her pump is too high
■ C. One or more insulin-to-carbohydrate ratios must be adjusted
■ D. The automated insulin delivery algorithm is not in use for enough time
Answer C
Malaekkah
330
- A 13 -year-old boy with T1DM has no complications and a recent hemoglobin A1c measurement of 7 % . He currently uses an AID device (670G) with the summary information shown (see Figure). Although he is meeting glycemic targets, he requests advice on how to handle postprandial hyperglycemia after dinner. He estimates carbohydrates carefully and administers his meal bolus on time.
If a parameter change is needed, which of the following changes is the most direct way to address his postprandial hyperglycemia?
■ A. Decrease insulin action time to increase insulin delivery for the meal
■ B. Decrease the carbohydrate ratio at dinner to increase insulin delivery for the meal
■ C. Decrease the correction factor (insulin sensitivity factor) to increase automated insulin delivery by the algorithm
■ D. Increase the basal rate because that is the most direct way to affect automated insulin delivery by the algorithm
■ E. Lower the target of the algorithm for the postprandial dinner or overnight period
Answer B
Malaekkah
331
You are evaluating a 17-year-old boy with type 1 diabetes mellitus. He transitioned to a hybrid closed-loop insulin delivery system with continuous glucose monitoring last year. He is efficiently using the system by wearing the continuous glucose monitor 97% of the time, allowing the pump to be in auto mode. The following data are downloaded
The insulin-to-carbohydrate ratio is 1:7 for 24 hours. The active insulin time is 2:00 hours, and the insulin sensitivity factor is 35 mg/dL . His manual basal rate is 0.9 units per hour. During your discussion, he says that the hypoglycemia recordings overnight are probably due to pressure- induced sensor inaccuracies. He reports some hypoglycemia episodes during the day associated with exercise, and he is also bothered by hyperglycemia after meals.
■ Which of the following suggestions is the best next step in this patient's management ?
■ A. Set a temporary basal rate when he is physically active to avoid hypoglycemia while in auto mode
■ B. Increase the manual basal rate to 1.1 units per hour to match the total daily auto basal in delivering adequate basal insulin if not in auto mode
■ C. Decrease active insulin time to 1:45 hours to help avoid postprandial hyperglycemia late in the evening
■ D. Lower his sensitivity to deliver more insulin bolus for correction of hyperglycemia in the evening when he is in auto mode
■ E. Lower his insulin-to-carbohydrate ratio to 1:6 for breakfast and dinner intervals to deliver more insulin bolus to avoid post prandial Hyperglycemia
Answer E
Malaekkah
332
A 12-year-old boy with confirmed Cushing's syndrome due to an adrenal adenoma is scheduled for an adrenalectomy. In order to optimize the patient's condition and minimize potential complications from surgery, which of the following pre-operative interventions is MOST appropriate?
■ A. Start the patient on an insulin-sensitizing agent.
■ B. Administer a bolus of intravenous hydrocortisone the day before surgery.
■ C. Initiate potassium-sparing diuretics.
■ D. Begin metyrapone or ketoconazole therapy to reduce cortisol production.
■ E. Give Bolus of Normal Saline immediately Post Surgery
Answer D
Malaekkah
333
12-year-old boy with confirmed Cushing's syndrome due to an adrenal adenoma is scheduled for an adrenalectomy. In order to optimize the patient's condition and minimize potential complications from surgery, which of the following interventions is MOST appropriate?
■ A. Administer hydrocortisone two days before surgery.
■ B. Start the patient on an insulin-sensitizing agent.
■ C. Initiate potassium-sparing diuretics.
■ D. Give Bolus of Normal Saline immediately Post Surgery
■ E. Administer a bolus of intravenous hydrocortisone immediately after surgery.
Answer E
Malaekkah
334
- A 14-year-old girl diagnosed with Graves' disease is being considered for a thyroidectomy due to failure of medical management. Prior to surgery, it is imperative to optimize her condition to prevent complications such as thyroid storm. Which of the following pre-operative interventions is MOST appropriate to achieve euthyroid status in this patient?
■ A. Start Lugol's solution
■ B. Begin high-dose oral corticosteroids immediately.
■ C. Initiate a beta-blocker alone, such as propranolol.
■ D. Start cholestyramine
Answer A
Malaekkah
335
A 6-year-old girl with a history of McCune-Albright syndrome (MAS) presents with vaginal bleeding. Laboratory tests reveal elevated levels of estradiol, and a pelvic ultrasound confirms ovarian cysts. Which of the following treatments is most appropriate to manage this patient's precocious puberty associated with MAS?
■ A. Gonadotropin-releasing hormone (GnRH) agonists
■ B. Surgical Removal of the cyst
■ C. Tamoxifen
■ D. Aromatase inhibitors
Answer D
Malaekkah ?
336
Edocrine Team had urgent Consultation for male new born due to repeated attachs of hypoglycemia and electrolytes distirbunce, clinically jaundiced and has a small well formed penis. Other systemic examination within normal, Labrotory result Full Septic was done ( Normal ), K 6 mmol/L ( N3.2 – 5 ) Na 135 mmol/L ( N 135- 145 ) Blood Sugar ranging 2.5-3 mmol/L ( N 4.4-6.6 ) ACTH 0.8 pmol/L ( N 1.5-12.4 ) Serum Cortisol 80 mmol/L (N300-700 )
■ What is the Likely diagnosis?
■ A. Genetic Causes of multiple anterior pituitary Hormone
■ B. Disorder of Sexual Diffrentiation
■ C. Congenital adrenal Hyperplasia
■ D. Congenital lipoid adrenal Hyperplasia
Answer A
Malaekkah
337
Child has genetic causes what is the most multiple anterior pituatary hormone deficiency in gene mutation affecting pituitary trascription factor pit 1 ?
■ A- Associated Deficiency of GH , ACTH, TSH , LH ,FSH
■ B- Associated Deficiency of GH, TSH, High prolactin
■ C- Associated Deficiency of GH , TSH, prolactin
■ D- Associated Deficiency of GH , TSH, Normal Level of ACTH and LH , FSH and high Prolactin
Answer C
Malaekkah
338
5 years old child presented to the clinic with history of obesity, developmental delay, needs special education care. His height at 50% weight above 97%. Has low serum ca, high ph , normal serum albumin , alkaline phosphatase 202 iu/L(100-400), PTH 14.5 pmol/L ( 0.9-5.5) normal level of calcitriol and 1,25 (oH)2 D3.
■ What is the most likely diagnosis ?
■ A- nutritional Rickets
■ B- Vit DDR type 2
■ C-pseudohypoparathyrodism
■ D- Sanjat Sakati syndrome
Answer C
Malaekkah
339
7 year old male child present to the ER with severe headache . Clinically discover abdominal mass. Suspect to have secondary hyperaldosteronism due to
■ A- hypo K, Metabolic alkalosis, Low renin, High aldoterone, Hypertension
■ B- Hypo K, Metabolik alkalosis, high renin,high aldosterone, hypertension
■ C- hyper K, metabolic acidosis, high renin, low aldosterone, hypotension
■ D- Hyper K, Metabolic acidosis, low renin,low aldosterone hypotension
Answer B
Malaekkah
340
7 years old female child referred to the clinic due to short stature. Normal SVD birth weight 2 kg , no hx of neonatal problems, does not have any medical problems. Not on any medication, height bellow 3 % ( -2SD ) . Weight at 3 % bone age equal to 2 years. Clinically patient more going with GH deficiency.
■ What is the most appropriate for genetic GH deficiency?
■ A – very common in general population
■ B- Type1 A and Type 1 B are automosmal Ressesive
■ C- Type 2 in X-linked
■ D- Type 3 Autosomal D
Answer B
Malaekkah
341
Which type of isolated genetic GH deficiency respond to human GH Therapy ?
■ A- Type 1 A have low GH level and Respond to GH Therapy
■ B- Type 1 B has absent GH and does not respond to GH therapy
■ C- Type 1 B type 2 , type 3 has low GH and Respond to GH Therapy
■ D- All Types of isolated genetic GH deficiency will not respond to GH therapy
Answer C
Malaekkah
342
- An Autosomal recessive disorder that presents with hypertriglyceridemia, pancreatitis and eruptive xanthomas is caused by deficiency of which of the following enzymes
■ A- Glucose 6-phosphate
■ B- Lipoprotien lipase
■ C- Hepatic Triglyceride lipase
■ D-Cholesterol acyl Transferase
Answer B
Malaekkah
343
Endocrine Consultation requested for a 5 days old female newborn due to abnormal looking genetalia On examination was found to have large clitoris, no hyperpigmentation,no palpbable gonads.
■ What is the most likely diagnosis ?
■ A- Anomalies of external genetalia
■ B- Congenital Adrenal Hyperplasia
■ C- Clitoral Hypertrophy
■ D- Under virilized male
Answer C
Malaekkah
344
6 years old girl hypertensive with hypokalemic alkalosis. Renin activity is suppresed.
The ratio of tetrahydrocortisol to tetrahydrocortisone is increased in her urine. The most likely Diagnosis is :
■ A- Glucocorticoid remidable hyperaldosteronism
■ B- Apparent Mineralocorticoid excess ( 11 HSD Deficiency )
■ C- Liddle syndrome
■ D- Aldosterone secreting adenoma
■ E-Bilateral micronodualr adrenocortical hyperplasia
Answer B
Malaekkah
345
5 years old boy presents with two year history of growth acceleration. He was full term. According to his family he always had a generous phallus but has developed pubic hair and increased phalic size over the past year. Family history notes that his maternal uncle and cousin both had early puberty; their respective heights are 155 cm and 160 cm. Also his gradfather started shaving at the age of 10.
Physical Exam, Somewhat muscular boy, HT > 95th % and Wt 75 th % . His examnation is normal with exception of 5 ml testes and Tanner 3 pubic hair and tanner 5 phallus. Labs : Bone age 13 years , Testo 356 ng/dl(12.3 nmol/L) his LH 1 IU/L
■ From the following the best choice for intial therapy is :
■ A- antiandrogen and aromatase inhibitor
■ B- Glucocorticoid and mineralocorticoid replacment
■ C-Glucocorticoid and Sex steroid production inhibitor
■ D- GnRH agonist
■ E-Synthetic progesterone
Answer A
Malaekkah
346
12 years old boy who recently moved to Jeddah and was transferred to your practice . He has a Hx of short stature and has been receiving GH for the last 5 years. Since the beginning of GH Tx he has increased from -3.5 SD to -1.8 SD. His height velocity has consistently been well above average for age. Physical examination results are within normal parameters, and he is still prepubertal. His labs from 5 years ago.
Pretreatment
IGF-1 23ng/ml(3nmol/L )
Random GH 9.2ng/ml(9.2mg/L)
GH Stim Peak 38.0 ng/ml ( 38.ug/L)
1 month after GH Tx
IGF-1 218 mg/ml (28.6 nmol/L)
Of the following the most likely explanation of short stature is that he has :
■ A- bioinactive GH molecule
■ B- Acid Labile Subunit Deficiency
■ C- Anti GH receptor antibodies
■ D- Classic GH Deficiency
■ E- GH insensitivity
Answer A
Malaekkah
347
couple brings their 6 months old son to see you. As they walk in the room, you notice that father is very tall, with long and slim limbs and particularly long legs. He has thickened eyelids and thick, prominent lips with neuromas of the tongue. You also notice a surgical scar on his anterior neck.
Of the following, if the child has the same diagnosis as the father, the most appropriate next management step for the boy is:
■ A- Anticipatory guidance about regular thyroid examination
■ B- Fine needle aspiration for thyroid biopsy
■ C- 123-iodine scan of the thyroid
■ D- Referral for total thyroidectomy
■ E- Thyroid function tests
Answer D
Malaekkah
348
2-year-old girl presents with Tanner Stage 2 breast development of unknown duration. She has no galactorrhea. Her height and weight are at the 50th percentile, appropriate for mid- parental target. Her review of systems was negative. She has a prepubertal vaginal mucosa. Your most prudent next step would be to:
■ A. Obtain FSH, LH and estradiol levels.
■ B. Obtain a bone age.
■ C. Obtain a pelvic ultrasound.
■ D. Reassure family and no follow up necessary.
■ E. Find out if other siblings had a similar pattern
Answer B
Malaekkah
349
12 yrs old girl known to have congenital hypothyrdism missed f/u since 2 yrs and off treatment came with TSH 100 IU , FT4 4 pgm/| You did lab including lipid profile the most likely result will be :
A-high LDL, LOW HDL, HIGH TG
B-HIGH LDL, HIGH HDL, HIGH TG
C-LOW TC, HIGH HDL, HIGH LDL
D-HIGH TC,HIGH TG
Answer B
Somaya
350
X-linked hypophosphatemic rickets is caused by which of the following mechanisms?
a) loss of function mutation of DMP1.
b) Overproduction of FGF-23 by mesenchymal tumor
c) Gain of function mutation in PHEX gene
d) increased serum FF-23 levels cause renal tubular phosphate wasting.
Answer D
Somaya
351
a 4-year-old girl presented becz of short stature, Ht 3.6) sd , wt -2.5 a birth weight of 1.7 kg; she had 2 weeks of neonatal intensive care unit care because of a transitory respiratory difficulty.
Examination revealed US:LS: 1.2:1 stature, high forehead, small midface, significant malar hypoplasia, full lips, and a hyperlordotic posture. Skeletal survey showed elongated vertebral bodies, small pelvis, and slender tubular bones her development and mentality is appropriate for her age
The most likely cause of her growth problem is
A-FGFR3 gene mutation
B-CUL7 gene mutation
C- Hypomethalation of imprinted central region 1 at 11p15.5
D-Mutation of ARSB gene
Answer B
3M syndrome
Sumaya
352
13 yrs old boy presented to you bec mother concern about a pigmented neck.
You noted that he look obese with BMI more than 90th, BP 130/70 , tanner stage 3 pubic hair with testicle volume 10 ml, he has velvety dark pigmentation on the back of his neck and under arms no other complain
The most important next step is to check
A-fasting glucose
B- HBA1C
C- HDL
D- TG
Answer C
Dr sumaya
353
You are asked to consult on a 3-year-old girl who was admitted last night with fever, difficulty breathing, and marked fatigue. She was found to be in septic shock and had poor myocardial function. Thyroid function tests this morning revealed a T4 of 4.5 g/dL, T3 of 84 ng/dL, and TSH of 0.8 MU/mL.
Of the following, the MOST likely explanation for the low T3 value is
A-decreased activity of thyroid-binding globulin (TBG)
B-decreased activity of iodothyronine deiodinase D1
C-decreased activity of iodothyronine deiodinase D2
D-decreased activity of iodothyronine deiodinase D3
Answer B
Dr Sumayah
354
8 yrs old girl treated from infancy as adrenal insufficiency is noted to have inguinal gonads the most likely diagnosis
A- DAX-1 Mutation
B-21 hydroxlase deficiency
C-lipoid adrenal hyperplasia
D- 17 hydroxylase deficiency
Answer C
Dr sumaya
355
A 14-year-old girl is evaluated for irregular period , hirsutism, and acne.
The patient mentions that she started having facial hair at age 10 years that has been getting worse with time. Menarche occurred at age 9 years, and her menses have always been irregular. She started having facial acne at age 12 years, which has worsened in the past 2 years, and no topical cream has helped her. She takes no medication. Her FHX is relevant for diabetes mellitus in the father.
PH EX: reveals the patient Ht 154 cm, wt 70 kg, HR: 72 beats/ min, BP 100/65 mm Hg, BMI 35 kg/m2.Her skin is seen to have facial acne and male pattern hirsutism. breast Tanner stage 5. No cushingoid features are noted
Laboratory testing (8 AM after an overnight fast) shows the following:
Cortisol 12mcg/dl ( 10-25 )
DHEAS 545 mcg/dl ( 56-287 )
Testerone 70 ng/dl ( 15-50 )
17 hyroxyprogesterone 205 ng/dI ( <200 )
What is best next step :
A. Perform cosyntropin stimulation testing
B. Start oral contraceptive therapy
C. Start spironolactone therapy
D. Perform ovarian ultrasonography
Answer A
Dr Sumayah
356
12 yrs old girl came bec of concern about growth and puberty .there is no signs of puberty, Ht less than 3rd centile, wt on 25th centile , Bone age 10 yrs. Her older sister has the same problem. lab: FSH: 102 iu/1, LH : 35 iu/I , Estradiol: 26.621 pmol/L
THE most helpful test is:
A- TSH
B-IGF1
C-us pelvis
D-Genetic test
Answer D
Dr Sumayah
357
You are asked to see a 13-year-old girl with suspected anorexia nervosa who admitted to the psychiatric medicine unit of your hospital. The patient has a fear of gaining weight and has refused to consume anything apart from green salads and bottled water. Your physical examination reveals findings consistent with the diagnosis, including a BMI of 15.3 and a cachectic appearance.
Her BP is 80/50 mmg and HR is 50 bpm. Her skin is very dry &has 1+ pitting edema.
Which of the following values obtained by her primary team would prompt you to consider additional testing for your patient?
a) Low IGF1
b) Increased reverse T3
c) Low serum leptin.
d) Low early morning serum cortisol
Answer D
Sumayah
358
14 yrs old boy presented to ER with fever 38.5 c and URTI and incidentally found to have RBS 370 mg/di no polyuria or polydipsia or weight loss
Family Hx positive for type 2 DM in his grand mother his weight 45 kg and height 150 cm Parents want to know if their child has DM
THE best next step is to
A- do HBA1C
B- do OGTT
C- start metformin and weight reduction
D- reassure
Answer B
Sumayah
359
DKA in children is mainly due to insulin deficiency The magnitude of the metabolic decompensation is exaggerated by which of the following hormones which may further impair insulin secretion ,antagonize its action and promote glycogenolysis , gluconeogensis ,lipolysis and ketogensis and decrease glucose utilization
A- Cortisol
B- GH
C- Glucagon
D- Epinephrine
Answer D
Sumayah
360
12& 6/12-year-old girl is referred for evaluation of short stature. At age 8 years has of poor growth. At that time, laboratory test results (comprehensive metabolic panel, complete blood cell count, thyroid function tests) and bone age were normal.
On physical examination today, her height is 124.5 cm -2.9d , wt 54 kg on 85th centile , macrocephaly and retrognathia .his arm and legs short, he has mild brachoactly no scolosis, tanner stage 5 for both B&P, MPHT 165 cm closet to 5th centile
Which of the following is the most likely explanation for her short stature?
A. Maternal uniparental disomy of chromosome 15
B. Mosaic Turner syndrome
C. Activating pathogenic variant in the FFR3 gene
D. Inactivating pathogenic variant in the maternal allele of the GNAS gene
Answer C
Sumayah
361
22-you are asked to evaluate a 13-year-old patient for fractures. She was born at 26 weeks of gestation. She has cerebral palsy and developmental delay. She is gastrostomy tube dependent and wheelchair bound. She receives a standard formula that she tolerates without problems. She has had a normal tempo of puberty, with menarche at 11 years of age. She has had multiple febrile urinary tract infections requiring hospitalization and treatment with antibiotics. She has had repeatedly elevated inflammatory markers associated with these infections. She has a history of multiple fractures.
Of the following, the laboratory test abnormalities you will MOST likely see in Alkaline Phosphatase ,250HVitamin D, procollagen type 1 C-terminal propeptide, urinary N-terminal telopeptide of type 1 collagen?
Normal, normal, decrease, increase
Sumayah
362
One of the following Neuropeptid is Oroxogenic :
A- GABA
B- POMC/alph MSH
C- CART
D- Leptin
Answer A
Sumayah
363
Multiple endocrine neoplasia, type 1 (MEN 1) is a hereditary syndrome characterized by tumors of the parathyroid glands, pancreas, and/or pituitary gland.
Which of the following tumors occurs in 30 to 90% of patients with
MEN 1?
A.Adrenal adenomas
B.Carcinoid tumors
C. Pancreatic islet cell tumors
D. Pituitary tumors
Answer C
Sumayah
364
11-yr-old boy is followed for chronic mucocutaneous candidiasis and hypoparathyroidism. His mother reports increasing fatigue, cutaneous pigmentation, and chronic abdominal pain.
Which of the following finding is the earliest biochemical evidence of
Addison disease:
A- low cortisol after ACTH stimulation test.
B- elevated basal ACTH.
C- elevated renin.
d -low AM cortisol
Answer C
Sumayah
365
8 months old girl presented to ER with recurrent hx of poor feeding , vomiting & Hypoglycemia of 40 mg/ di.
Growth: weight on 3rd centile length on 75th centile
Hyperpigmentation of palmar creases and knuckle, mucous membrane of the mouth, rest of examination was normal Na 140, k4 , urea and creatinine normal
Cortisol 50 mol/I , aldosterone 0.8 mol/I ,ACTH 300
The most likely genetic defect is :
a) mutation of NR3C1
b) mutation of WNK1 kinase
c) mutation of NR3C2.
d) mutation of MC2R
Answer D
Sumayah
366
A 5-yr-old girl with a 6-mo history of excessive urination and thirst is seen for an evaluation. She has no history of trauma, recent illness, or medication use. Physical examination demonstrates a well-appearing child with normal vital signs, stable weight, and normal findings on the neurologic examination You suspect diabetes insipidus.The most appropriate next step in the management of this patient is:
A- Serum and urine electrolytes
B-MRI scan of the brain
C-Quantification of daily fluid input and output
D-Water deprivation test
Answer C
Dr Sumayah
367
You are asked to see a 12-year-old female who presents with a history of progressive cognitive dysfunction. During the course of neurologic investigations, magnetic resonance imaging (MRI) of the head is pertormed.
In addition to evidence of cortical atrophy, the radiologist notes a 6 mm left sided lesion within the sella. The pituitary stalk is mid-line and the optic chiasm is visualized with no evidence of compression. You are asked to see her for endocrine assessment.
What is the most suitable course of management for this patient?
A-This patient has a pituitary tumor that requires surgical removal.
B-Conservative management with pituitary function testing
C-Hormone replacement with glucocorticoids and thyroid hormone are required to avoid worsening of symptoms.
D-Radiation therapy is indicated to avoid pituitary tumor progression.
Answer B
Sumayah
368
13 year old boy, the third sibling in a consanguineous parent referred to your clinic with a four year history of headache, excessive fatigue, difficulty in walking and climbing the stairs and recurrent fainting attacks. This was accompanied by continuous pain and recurrent ulcers in both eyes. One year ago, the patient started to have recurrent attacks of vomiting and treated with Omeprazole as a case of gastroesophageal reflux. On examination, his height was 140 cm (-3SD), weight was 28 kg (< - 4 SD) and darker skin than the rest of family members especially around the lips and knuckles. Chest, heart and abdominal examination showed no abnormalities Neurological examination showed wasting, slight hypotonia, diminished deep tendon reflexes and weakness of proximal muscles of upper and lower limbs. Morning cortisol was 2.7 ug/dl(normal level: 4.3- 22.4), ACTH was more than 1250 pg/ml (normal level: 10-60), normal brain MRI.
Which one of the following statements is true:
A-adrenal insufficiency is secondary to hypoplasia of adrenal gland.
B-an x- linked disease.
C-More than 60 % of the patient have mineralocorticoid deficiency.
D-Neurological sequelae are very common , progressive and difficult to treat.
Answer D
Sumayah
369
An 11-month-old boy presents with failure to thrive . He was breastfed exclusively until age 4 months at which time cereal and fruit juice were introduced . Examination findings are remarkable for a prominent and hepatosplenomegaly.
Plasma glucose = 45 mg/dL (65-109 mg/dL) (SI: 2.5 mmol/L [3.61-6.05 mmol/L]) Lactate = 18.0 mg/dL (2-27 mg/dL) (SI: 2.0 mmol/L [0.22-2.98 mmol/L]) Triglycerides = 1000 mg/dL (30-104 mg/dL) (SI: 11.3 mmol/L [0.34-1.18 mmol/L]) ALT = 70 U/L (10-40 U/L) (SI: 1.17 µkat/L [0.17-0.67µkat/L]) AST = 80 U/L (10-40 U/L) (SI: 1.34 µkat/L [0.17-0.67 µkat/L]) Creatine kinase = 350 U/L (10-90 U/L) (SI: 5.85 µkat/L [0.17-1.5 µkat/L])
Which of the following is the most likely explanation for this child's presentation?
A. Glycogen debrancher deficiency
B. Phosphofructokinase deficiency
C. Glucose-6-phosphatase deficiency
D. Liver phosphorylase deficiency
E. Glucose transporter 2 deficiency
Answer A
Dr areej 2
370
A 15-year-old boy has been admitted to the hospital with tonic clonic seizure, There were no obvious triggers for the seizure. He has a 2- to 3-year history of monthly bitemporal headache . Over the past 6 weeks, his headaches have been much more severe and have been associated with palpitations and significant sweating.
Blood pressure is 165/84 mm Hg, and pulse rate is 105 beats/min.
Laboratory test results:
Sodium = 134 mEq/L (133-146 mEq/L) (SI: 134 mmol/L [133-146 mmol/L]) Potassium = 3.4 mEq/L (3.9-5.3 mEq/L) (SI: 3.4 mmol/L [3.9-5.3 mmol/L]) Serum urea nitrogen = 17.9 mg/dL (7.0-21.8 mg/dL) (SI: 6.4 mmol/L [2.5-7.8 mmol/L]) Creatinine = 0.9 mg/dL (0.5-1.0 mg/dL) (SI: 80 mmol/L [45-84 mmol/L]) Glucose = 139 mg/dL (70-99 mg/dL) (SI: 7.7 mmol/L [3.9-5.5 mmol/L]) TSH = 4.5 mIU/L (0.5-4.8 mIU/L) Free T4= 1.1 ng/dL (0.9-1.6 ng/dL) (SI: 14.0 pmol/L [12.0-20.6 pmol/L])
Which of the following would be the most useful diagnosticinvestigation now?
A. Echocardiography
B. Head MRI
C. Measurement of urinary or plasma metanephrines
D. MIBG scan
E. Abdominal CT
Answer C
Areej 2
371
7 year old Her father has a history of bilateral pheochromocytoma diagnosed at age 41 years, and he was found to have a pathogenic variant in the RET proto-oncogene (C634R). You recommend RET genetic testing and the patient is found to have the same pathogenic variant.
Which of the following is characteristic of this patient'scondition?
A. High risk for hyperparathyroidism; screening is recommended now
B. High risk for pheochromocytoma; screening is recommended now
C. History of Hirschsprung disease; screening for cutaneouslichen amyloidosis is recommended
D. High risk for aggressive medullary thyroid carcinoma; total thyroidectomy is recommended now
E. Marfanoid habitus; high risk for metastatic medullary thyroid carcinoma and ophthalmologic and skeletal manifestations; screening is recommended now
Answer D
Areej 2
372
During a follow-up appointment for type 1 diabetes mellitus, an 18-year-old girl reports she is 16 weeks pregnant. Prenatal ultrasonography at 12-weeks' gestation was normal. Results from a first-trimester quadruple marker blood screen were normal. Cell-free DNA screening was negative for trisomy 21, 18, and 13 but showed monosomy X. She searched online and read about Turner syndrome. She is considering the option of medical termination of pregnancy and asks for an opinion.
In addition to encouraging the patient to have further discussions with her obstetrician, which of the following is the best next step?
A. Reassurance and follow-up in 3 months
B. Another cell-free DNA screen
C. Fetal karyotyping by amniocentesis
D. Fetal karyotyping by chorionic villus sampling
E. Referral for counseling about options regarding medical termination of pregnancy
Answer C
Areej 2
373
9-year-old girl presents for a follow-up visit. She has a history of craniopharyngioma, resected 1 year ago, that required subsequent radiation treatment. Her grandparents, who are her legal guardians, think that she has gained a lot of weight since her last visit 6 months ago. In addition to evaluating for pituitary deficiencies, further hormonal assessments are ordered.
Which of the following patterns is characteristic of this patient's condition?
A. Increased leptin Increased insulin Suppressed ghrelin
B. Decreased leptin Insulin resistance Elevated ghrelin
C. Increased leptin Insulin resistance Suppressed ghrelin
D. Decreased leptin Insulin sensitive Elevated ghrelin
E. Increased leptin Increased insulin Elevated ghreli
Answer A
areej 2
374
1-Fetal adrenal steroidogenesis begins at :
a) 4 weeks
b) 5 weeks
c) 7 weeks
d) 9 weeks
Answer C
Enad
375
Which of the following adrenal steroids dose not exhibit a diurnal variation?
a) androstenedione
b) dehydroepiandrosterone
c) DHEA sulfate
d) aldosterone
Answer C
Enad
376
The rate-limiting and hormonally regulated step in the synthesis of all steroid hormones in mitochondria needs which of the following enzymes:
a) StAR
b) P450scc
c) Cytochrome b5
d) P450 Oxidoreductase
Answer B
Enad
377
The fetal adrenal cortex is consists of two major zones: the fetal zone and the adult zone. The fetal zone is primarily responsible for
a) Cortisol synthesis
b) DHEA synthesis
c) Aldosterone synthesis
d) Androstenedione synthesis
Answer B
Enad
378
Which One of the following statements is true about Human gonads development and differentiation?
a) Testicular differentiation begins earlier than ovarian development.
b) The first evidence of testicular differentiation is the appearance of primitive Sertoli cells at 9 weeks of gestation.
c) The binary switch responsible for testicular development is the SRY gene located on the long arm of the Y chromosome
d) fetal Leydig cells appear around the 12 weeks of gestation and produce androgens to promote internal and external male genital structures
e) The greatest number of follicles 6.8 million oocytes exists at birth.
Answer A
Enad
379
baby boy born at 31 weeks of gestation with a weight of 882 g to non-consanguineous parents. On physical examination, profound skin hyperpigmentation, frontal bossing, low-set ears, Short arms and legs, bilateral cryptorchidism, and micropenis were noted. The patient underwent mechanical ventilation immediately after birth owing to respiratory difficulty. On the third day of life, he manifested hypotension with high urine output, hyponatremia, hyperkalemia, high plasma adrenocorticotropic hormone level, and high plasma renin activity, suggesting acute adrenal insufficiency. The serum 17a-hydroxyprogesterone level was normal. Adrenal insufficiency improved following administration of hydrocortisone and 9a-fludrocortisone, but the patient died of recurrent infection at 4 months of age. The most likely genetic defect is
a) SAMD9
b) CDKN1
c) SOX9
d) GLIB
Answer B
Enad
380
14 years old female complaining of delayed breast development.
Laboratory studies show elevated LH, low testosterone, and normal FSH concentrations. There is no significant testosterone response to hG stimulation. US showed absent Mullerian duct derivatives and Testes in inguinal area. testicular histology reveals absence of Leydig cells and normal Sertoli cells.
What is the most likely diagnosis
a) NR3C4 resistance
b) NR3C2 resistance
c) luteinizing hormone choriogonadotropin receptor resistance
d) follicle-stimulating hormone receptor resistance
answer C
Enad
381
You are consulted on a 12-day-old infant in the newborn intensive care unit. born at 38 weeks gestation with a birth weight of 2438 grams. Physical examination showed normal blood pressure with normal female genetalia.
Feeding difficulties developed in the first week of life. Electrolytes were measured on his 14th day of life and revealed a sodium of 123 mol/L and potassium of 7.8 mmol/L. Further serum laboratory studies were obtained,
including:
Cortisol = 3.3 g/dL, ACTH = 1190 pg/mL, Plasma renin activity = 7500 ng/dL/hr, Aldosterone = 2.7 ng/dL 17-hydroxyprogesterone = 7 ng/ dL,
Karyotyping 46XY.
Of the following is true about the primary diagnosis
a) The defected gene located on 5 p11.23
b) Inherited as Autosomal dominant
c) Small adrenal gland
d) pregnenolone synthesis is decreased
Answer D
Enad
382
13-years-old boy with large tumor in the right atrium discovered in the echo study. his detailed echo examination showed the large right atrial tumor with features of myxoma. He has pigmented nevi on the face and trunk and spotty skin pigmentation of the lips. He presented to Endocrine clinic with discrete signs of Cushing's syndrome. What is the most likely underlying cause of Cushing's syndrome in the boy?
a) pituitary microadenoma
b) Adrenal carcinoma
c) primary pigmented nodular adrenocortical disease
d) macronodular adrenocortical hyperplasia
Answer C
Enad
383
The most common genetic cause of the CPHD?
a) POU1F1
b) PROP1
c) LHX3
d) HESX1
Answer B
Dr Enad
384
Baby boy was born from non-consaguineous healthy parents, at term by a normal vaginal delivery. Birth weight was 3.30 kg (+ 0.37
SDS), length 51 cm (+ 0.36 SDS). Bilateral anophthalmia was noted at birth, with deeply set orbits, normal eyelids and eyelashes, and absence of other dysmorphic features. Diagnosed later on with sensorineural deafness and growth hormone deficiency.
Which of the following is associated with his genetic defect?
a) Short neck with limited rotation
b) esophageal atresia
c) Learning difficulties
d) cleft lip and palate
Answer B
Dr Enad
385
4-year-old boy came to Endocrine clinic with his parents due to growth retardation. On Physical examination his height 94.8 cm (-2.02 SDS), and his weight was 14.6 kg (-1.29 SDS). the height of the boy was 70 cm at 12 months of age (-2.40 SDS) and 85 cm at 30 months old (-2.03 SDS).
Magnetic resonance imaging revealed a normal size and shape of the pituitary gland. The BA was found to be 5 years and 6 months. The most likely genetic defect is
a) NPR2
b) ACAN
c) FGFR3
d) PTPN11
Answer B
Enad
386
which of the following is true about the Consensus guidelines on the diagnosis of GH deficiency in childhood?
a) Severe short stature, defined as a height more than 2.5 SD below the mean.
b) Height more than 2 SD below the midparental height.
C) Decrease in height SD of more than 0.5 over 1 year in children over the age of 2 years.
d) In the absence of short stature, a height velocity more than 1 SD below the mean over 1 year
Answer C
Enad
387
7 months old boy known case of SCD diagnosed at age of 6 months. The pt has normal growth and health until age of 6 months when he started to have fever, seek medical advice at outside hospital and received oral and IV antibiotics for 20 days with no benefit. full septic work up and cultures were negative. on physical examination found to have hepatosplenomegaly without lymphadenopathy. Other exam within normal. The investigation showed : pancytopenia, high ferritin >50,000, high triglyceride 3.8, low fibrinogen 1.38, high liver enzymes and positive combs test.
Later on bone marrow aspiration and biopsy showed trilineage hematopoietic marrow with dysplasia in the erythroid lineage. the most common endocrinopathy associated with this condition is:
a) Growth hormone deficiency
b) Diabetes insipidus
c) Adrenal insufficiency
d) Central hypothyroidism
Answer B
Enad
388
Vasopressin release increased by:
a) Lithium
b) clozapine
Nephrogenic DI
c) Demeclocycline
d ) carbamazepine
Answer D
Enad
389
9-year old boy presented with loss of balance, headache, vomiting, double vision and was found to have a large brain tumor. surgical removal done and patient admitted to PICU. You were discussing with your consultant the Triple Phase response to surgery. Which of the following finding represent the 1st phase?
a) High urine osmolality
b) High urine output
c) Low serum sodium
d) High urine specific gravity
Answer B
Enad
390
7-year-old boy presented to endocrine clinic with Normal TSH, normal T3, FT3 and FT4 and elevated T4. you request T3U and showed normal result. The most likely diagnosis is :
a) Familial dysalbuminemic hyperthyroxinemia
b) TBG excess
c) TBG deficiency
d) Euthyroid sick syndrome
What is the mode of inheritance?
Answer A
AD
Enad
391
The risk for autoimmune thyroid disease in turner syndrome is
a) 10%
b) 30%
c) 50%
d) 75%
Answer C
Enad
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14-year-old girl presented with complaints of growth failure. A detailed history was elucidated, which revealed that she had linear growth failure for the last 7-8 years. She also complained of lethargy, weakness, constipation, cold intolerance, dry skin, and decreased appetite. Investigation revealed TSH 730 mUl/L and FT4 4.2 pmol/L (9-19 pmol/L). which of the following labratory results you would expect to find ?
a) High LDL
b) Hypernatremia
c) Low creatinine kinase
d) Low prolactin
Answer A
Enad
