Courses MCQ Flashcards
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 %
Answer C
Dr Bahha 2023
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.
Answer D
Dr Bahha 2023
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
Answer D
Dr Bahha 2023
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).
Answer A
Dr Bahha 2023
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
Answer A
Dr Bahha 2023
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
Answer A
Dr Bahha 2023
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
Answer B
Dr Bahha 2023
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
Answer C
Dr Bahha 2023
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
Answer B
Dr Bahha 2023
Which of the following bone resorption marker :
a) Osteocalcin
b) Osteoblasts
c) Collagen type 1 telopeptides
d) Collagen type 1 propeptides
Answer C
Dr Bahha 2023
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
Answer B
Dr Bahha 2023
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
Answer A
Dr Bahha 2023
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
Answer D
Dr Bahha 2023
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
Answer B
Dr Bahha 2023
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
Answer B
Dr Bahha 2023
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
Answer B
Dr Bahha 2023
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
Answer A
Dr Bahha 2023
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
Answer A
Dr Bahha 2023
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
Answer D
Dr Bahha 2023
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
Answer B
Dr Bahha 2023
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
Answer A
Dr Bahha 2023
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
Answer E
Dr Bahha 2023
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
Answer C
Dr Bahha 2023
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
Answer C
Dr Bahha 2023
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Homozygous SHOX deficiency cause :
A. Langer mesomelic dysplasia
B. Leri-weill dyschondrosteosis.
C. Idiopathic short stature.
D. Turner Syndrome.
Answer A
Dr Areej 2023
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
• 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Answer B
Answer E
Dr Taibah 2023
Answer E
Dr Taibah 2023
Answer C
Dr Taibah 2023
Answer C
Dr Taibah 2023
Answer B
Dr Taibah 2023
Answer D
Dr Taibah 2023
Answer B
Dr Taibah 2023
Answer D
Dr Taibah 2023
Answer C
Dr Taibah 2023
Answer D
Dr Taibah 2023
Answer E
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Answer A
Dr Taibah 2023
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
Dr Taibah 2023
Answer D
Dr Taibah 2023
Answer A
Dr Taibah 2023
Answer D
Dr Taibah 2023
Answer A
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer B
Dr Abdulaziz 2023
Answer B
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer B
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer C
Dr Abdulaziz 2023
Answer D
Dr abdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer C
Dr abdulaziz 2023
Answer D
Dr abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer B
Dr Abdulaziz 2023
Answer B
Dr. Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer C
Dr Abdulaziz 2023
Answer B
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer B
DrvAbdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer B
Dr Abdulaziz 2023
Answer D
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Answer C
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
Answer C
Dr Abdulaziz 2023
Answer D
( Rickets , high ca , fracture, seizure ) Think of Hypophosphatasia
Dr Abdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer C
Dr Abdulaziz 2023
Answer D
Dr Abdulaziz 2023
Answer A
Dr Abdulaziz 2023
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
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
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
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
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
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
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
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
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
Answer A
Dr Ameer 2023
Answer D
Dr Ameer 2023
Answer C
Dr Ameer 2023
Answer C
Dr Ameer 2023
Answer C. No thyroid tissue
Dr Ameer 2023
Answer C
Dr Ameer 2023
Answer C
Dr Ameer 2023
Answer B
Dr Ameer 2023
Answer B and treatment is Nacl Replacement
Dr Ameer 2023
Answer A
Dr Ameer 2023
Answer D
Dr Ameer 2023
Answer D
Dr Ameer 2023
Answer B
Dr Ameer 2023
Answer 3 and 4
Dr Ameer 2023
Answer 3
Dr Ameer 2023
Answer A
Dr Sara
Answer D
Dr Sara
Answer B
Dr Sara
Answer C
Dr Sara
Most likely diagnoses
Pit1 ( POU1F1)
Answer B
Dr Sara
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
Dr Alagha 2023
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
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
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
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
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
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
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
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
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
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
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
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
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
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
- 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
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
