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Pediatric Questions > ENDOCRINOLOGY > Flashcards

ENDOCRINOLOGY Flashcards

1
Q

What is the first sign of puberty in a boy?

A

Testicular enlargement

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1
Q

What is the first sign of puberty in a girl?

A

Breast budding

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2
Q

The height acceleration peaks in girls is at which
sexual maturation rating (SMR) stage?

A

Between stage 2 and 3 SMR

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3
Q

The height acceleration peaks in boys is at which SMR stage?

A

Between stage 4 and 5 SMR

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4
Q

How many years after breast development does
menarche start?

A

2.5 years (approximately)

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5
Q

A 5-year-old female, pubic hair, adult odor, no
breast development, bone age is equal to
chronological age, slightly increased
dehydroepiandrosterone (DHEA) level, normal
growth pattern for age

A

Premature adrenarche

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6
Q

A 2-year-old female with bilateral breast buds,
unchanged for 1 year, no growth acceleration

A

Benign premature thelarche

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7
Q

A 4-year-old female with new-onset bilateral
breast enlargement, advanced bone age, and
elevated luteinizing hormone (LH) and folliclestimulating hormone (FSH)

A

Central precocious puberty is very likely

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8
Q

A 4-year-old boy presents with an adult-size
phallus, pubic and axillary hair, acne, well-defined muscle tone, prepubertal size testicles

A

Peripheral precocious puberty

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9
Q

A 4-year-old boy presents with an adult-size
phallus, pubic and axillary hair, acne, well-defined muscle tone, pubertal size testicles, advanced bone age

A

Central precocious puberty

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10
Q

A 4-year old boy with new-onset adult body odor, recent growth acceleration, pubic and axillary hair, thinning of the scrotum, enlargement of both testicles. Elevated LH and FSH. What is the best study to establish the diagnosis?

A

Brain MRI

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11
Q

A 5-year-old girl with pubic hair, mild
hyperpigmentation of skin folds, slightly enlarged clitoris

A

Simple virilizing CAH-21 OH deficiency

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12
Q

Second newborn screen positive for high
17-hydroxyprogesterone. What is the next best
step?

A

Repeat 17-hydroxyprogesterone test

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13
Q

What is the best treatment of congenital adrenal hyperplasia?

A

Hydrocortisone and fludrocortisone

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13
Q

Newborn with proximal hypospadias (e.g.,
penoscrotal) and cryptorchidism

A

Ultrasonography for internal genitalia,
karyotype, and serum electrolytes to screen for
congenital adrenal hyperplasia

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14
Q

What is the treatment for a patient with congenital adrenal hyperplasia who presents with vomiting and low blood pressure?

A

IV hydrocortisone and IV fluid hydration

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15
Q

A 2-week-old male with failure to thrive, persistent vomiting, dehydration, acidosis

A

CAH 21-OH deficiency (pyloric stenosis is
associated with metabolic alkalosis)

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16
Q

Ambiguous genitalia, nephropathy, Wilms tumor, renal failure by 3 years of age

A

Denys–Drash syndrome

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17
Q

Female phenotype at birth with undifferentiated
streak gonads, presence of vagina/fallopian tubes, at puberty no breast development/menstruation, development of gonadoblastoma is the highest risk

A

Swyer syndrome (XY pure gonadal dysgenesis)

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18
Q

Newborn with a small penis, bifid scrotum,
urogenital sinus, blind vaginal pouch, testes are in the inguinal canal, raised as a female, virilization occurs at the time of puberty, enlargement of penis and scrotum, sperm formation, and normal adult height

A

5-alpha reductase deficiency (autosomal
recessive)

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19
Q

Infant phenotypically female at birth, raised as
female, vagina ends in a blind pouch, no uterus, no fallopian tubes, intra-abdominal testes, normal breast development, no menses, normal male adult height, testosterone level is normal

A

Androgen insensitivity syndrome; 46, XY
(X-linked recessive disorder)

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20
Q

XY normal male phenotype, inguinal hernia,
undescended testis, Müllerian structures found
incidentally (uterus and fallopian tubes)

A

Persistent Müllerian duct syndrome

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21
Q

A slow growth rate in the first 2 years of life
(< third percentile), growth velocity afterward is
5.5 cm/year, delayed bone age, delayed puberty, father was a late bloomer

A

Constitutional growth delay

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22
Q

A 4-year-old with precocious puberty, large caféau- lait spots, skeletal fibrous dysplasia, and
vaginal bleeding are associated with

A

McCune–Albright syndrome

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23
Q

Short child, growth velocity is 5 cm/year. Bone age is consistent with chronological age, father and mother are short

A

Genetic/familial short stature

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24
Q

A 4-year-old, height < 3rd percentile, growth
velocity is less than 5 cm/year, microphallus

A

Growth hormone deficiency

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25
Q

Common hormone deficiency associated with
single maxillary central incisors, septo-optic
dysplasia, cleft lip, cleft palate, and microphallus

A

Growth hormone deficiency

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26
Q

Normal length and weight by birth initially that
drops by 1-year, conjugated hyperbilirubinemia,
hypoglycemia, broad facies, and microphallus

A

Congenital growth hormone deficiency

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27
Q

Decreased levels of IGF-1 and IGF-BP3 are seen
in which hormone deficiency?

A

Growth hormone deficiency

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28
Q

How do you calculate the mid-parental height for a male?

A

[Mother height + Father height +13 cm]/2

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28
Q

Normal growth hormone levels, height < 2.25 SD below mean for age, otherwise normal healthy child

A

Idiopathic short stature

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29
Q

How do you calculate the mid-parental height for a female?

A

[Mother height + Father height—13 cm]/2

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30
Q

Pseudotumor cerebri, slipped capital femoral
epiphysis, and gynecomastia are the possible side effects of which hormonal therapy

A

Growth hormone

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31
Q

A 7-year-old boy with a progressive headache,
vomiting without nausea, bitemporal hemianopsia, short stature, weight gain, and fatigue. What is the next best step?

A

Brain MRI (craniopharyngioma)

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32
Q

A 7-year-old boy, at birth, was large for gestational age, macrocephaly, a rapid growth rate in the first 3 years of life; now presenting with cognitive deficiency, autistic behavior, attention deficit hyperactivity disorder (ADHD), large and protruded head, large hands and feet, hypotonia, clumsiness, advanced bone age

A

Cerebral gigantism (Soto syndrome)

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33
Q

Boy with hypoplasia of optic nerves, nystagmus,
an absence of septum pellucidum, schizencephaly, seizures, hypopituitarism, presented with hypoglycemia, jaundice, and micropenis at birth

A

Septo-optic dysplasia (De Morsier syndrome)

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34
Q

A 17-year-old female, amenorrhea, headache,
galactorrhea, visual field defect; the pregnancy test is negative, and serum prolactin is > 200 mg/ dL. MRI showed a pituitary mass of 15 mm with encroachment on the optic chiasm

A

Prolactinoma (macroadenoma)

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35
Q

A 17-year-old boy, no signs of puberty, penis, and testicles are prepubertal, and anosmia

A

Kallmann syndrome (hypogonadotropic
hypogonadism)

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36
Q

A 17-year-old male presents for a well visit. He
has academic difficulty, gynecomastia, small firm testicles (< 10 mL). He is tall with
disproportionately long legs and arms

A

Klinefelter syndrome 47, XXY karyotype

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37
Q

A 16-year-old female, short stature (< third
percentile), no breast development, amenorrhea, low hairline, shield-shaped chest, spooning of her fingernails, cubitus valgus, and sensorineural hearing loss

A

Turner syndrome; 45, X karyotype

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38
Q

The most common cardiac defect associated with Turner syndrome

A

Bicuspid aortic valve

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39
Q

Newborn girl had cystic hygroma on fetal
ultrasound, lymphedema of the feet, webbed neck, heart murmur, and horseshoe kidney

A

Turner syndrome; 45, X karyotype

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40
Q

A 5-year-old male, lymphedema of the feet at
birth, short stature, webbed neck, strabismus,
hearing loss, joint laxity, pulmonary stenosis,
intellectual disability, normal karyotype

A

Noonan syndrome (mutations in the RASMAPK
pathway)

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41
Q

Newborn screen of a 6-day-old boy showed
abnormal thyroid-stimulating hormone (TSH) level of 230 mIU/L (elevated TSH > 40 mIU/L).
Physical examination is unremarkable. What is the next best step?

A

Obtain confirmatory TSH and free thyroxine
now but initiate the treatment immediately,
before the results of the confirmatory tests are
available

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42
Q

What is the optimal care of neonates with
congenital hypothyroidism?

A

Early diagnosis before age 10–13 days and
normalization of thyroid hormone blood levels
by age 3 weeks

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43
Q

What is the treatment of congenital
hypothyroidism and how should the treatment be given?

A

Levothyroxine tablet (initial dose is 10–15 mcg/
kg/day) should be crushed and mixed with breast milk or formula (cannot be mixed with soy formula)

44
Q

The most common cause of congenital
hypothyroidism

A

Thyroid dysgenesis

45
Q

Low free T4, elevated TSH

A

Primary hypothyroidism

46
Q

Low free T4, normal or low TSH

A

Central hypothyroidism

47
Q

High free T4 and T3, low TSH

A

Hyperthyroidism (most common)

48
Q

Normal or low free T4, high T3, low TSH

A

Hyperthyroidism (less common)

49
Q

Normal T4, low T3, normal/low TSH, the patient
has pneumonia

A

Euthyroid sick syndrome

50
Q

Low total T4, normal free T4, normal TSH

A

Thyroxine-binding globulin deficiency (TBG),
hypoproteinemia, e.g., malnutrition and
nephrotic syndrome

51
Q

A 11-year-old female with no growth for 2 years,
tired, constipated and “yellowish” skin

A

Hypothyroidism (likely Hashimoto)

52
Q

Adolescent with thyroid enlargement, no
symptoms, TSH and free T4 are within the
reference range, positive antithyroid peroxidase
(TPO)

A

Hashimoto thyroiditis

53
Q

A 14-year-old girl, school troubles, getting in
fights, appears to be on drugs because of red bulgy eyes and irritability

A

Graves disease (hyperthyroidism)

54
Q

What is the best test to confirm the diagnosis of
Graves disease?

A

Thyrotropin receptor-stimulating
immunoglobulin (TSI)

55
Q

A painful thyroid gland that started after viral
infection associated with elevated ESR with an
eventual return to normal thyroid function

A

De Quervain thyroiditis—initial hyperthyroid
phase, then hypothyroid phase with eventual
recovery

56
Q

Newborn child with tachycardia, irritability,
hypertension, mother with a history of Graves
disease?

A

Neonatal thyrotoxicosis

57
Q

The most common symptom of hyperthyroidism or Graves disease

A

Weakness/fatigue

58
Q

The most common side effect of antithyroid drugs (e.g., methimazole)

A

Transient urticarial rash

59
Q

The best diagnostic test for solitary thyroid nodule

A

Fine needle aspiration biopsy; US-guided

60
Q

The most common thyroid cancer in pediatric
patients

A

Well-differentiated thyroid (follicular/papillary)
carcinoma

61
Q

Medullary thyroid cancer, hyperparathyroidism,
pheochromocytoma

A

Multiple endocrine neoplasia (MEN)-2A

62
Q

Medullary thyroid cancer, pheochromocytoma,
mucosal neuroma

A

MEN-2B

63
Q

Calcitonin is elevated in which type of thyroid
cancer?

A

Medullary thyroid cancer

64
Q

Low to normal serum Ca, low serum phosphate,
high alkaline phosphatase, low 25-(OH) vitamin D, high parathyroid hormone (PTH)

A

Vitamin D deficiency (rickets)

65
Q

Normal serum Ca, low serum phosphate, very high alkaline phosphatase, normal vitamin D, failure to thrive, hypotonia, delayed dentition

A

Hypophosphatemic rickets or X-linked
hypophosphatemic rickets

66
Q

What is the mode of inheritance of
hypophosphatemic rickets?

A

X-linked dominant

67
Q

High serum PTH, low serum Ca, high phosphate,
short stature, stocky habitus, soft-tissue
calcifications/ossifications, short fourth and fifth
metacarpal bones

A

Albright hereditary osteodystrophy
(pseudohypoparathyroidism type 1A)

68
Q

Short stature with stocky body habitus, soft-tissue calcification/ossifications, short fourth and fifth metacarpals with normal PTH, normal calcium, and normal phosphate

A

Pseudopseudohypoparathyroidism—due to
paternal mutation

69
Q

Normal serum Ca, low serum phosphate, very high alkaline phosphatase, non-anion gap metabolic acidosis, developmental delay, cataracts, glaucoma

A

Oculocerebrorenal dystrophy (Lowe syndrome)

70
Q

A 7-year-old with obesity, hyperphagia, small
hands and feet, small penis, cryptorchidism, and
cognitive deficiency

A

Prader–Willi syndrome

71
Q

What is the chromosomal deletion of Prader–Willi syndrome?

A

Paternal chromosome 15q11-q13 deletion

72
Q

Obesity, retinitis pigmentosa, hypogonadism,
intellectual disability

A

Bardet–Biedl syndrome or Laurence–Moon–
Biedl syndrome

73
Q

Adolescent female, obesity, acanthosis nigricans, HBA1c 6.9%, elevated testosterone and LH, hirsutism, no ovarian cysts noticed on
ultrasonography

A

Polycystic ovary syndrome

74
Q
A
75
Q

Failure to thrive, microcephaly, intellectual
disability, ptosis, strabismus, syndactyly, pyloric
stenosis, and low-plasma cholesterol

A

Smith–Lemli–Opitz syndrome (autosomal
recessive)

76
Q

Polydipsia, hypernatremia, serum osmolarity > 300 mOSm/kg, urine osmolarity < 300 mOSm/
kg

A

Diabetes insipidus (DI)

77
Q

Patient with meningitis on IV fluids, hyponatremia, hypo-osmolality, elevated blood pressure, inappropriately concentrated urine, and high urine sodium level

A

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)

78
Q

What is the best initial treatment for the patient
with SIADH in the previous example?

A

Reduce IV fluid rate (fluid restriction)

79
Q

A patient underwent neurosurgery for a brain
tumor, develops dehydration, hyponatremia, high urine output, hypovolemia, low blood pressure, high urine Na

A

Cerebral salt wasting

80
Q

Cerebral salt wasting is associated with which
hormone is being elevated?

A

Atrial natriuretic peptide

81
Q

What is the best treatment for a patient with
cerebral salt wasting dehydration?

A

Isotonic fluid hydration

82
Q

Patient with diabetes insipidus comes in for water deprivation test, after administration of DDAVP (desmopressin) the urine becomes concentrated

A

Central diabetes insipidus

83
Q

Patient with diabetes insipidus comes in for water deprivation test, after administration of DDAVP there is no effect on urine concentration

A

Nephrogenic diabetes insipidus

84
Q

Child with obesity, height < 3rd percentile, blood
pressure > 95th percentile for age

A

Cushing syndrome

85
Q

A 7-year-old boy with a history of severe asthma, presents with a 3-day history of worsening nausea, abdominal pain, and vomiting, he was on a high dose of inhaled steroids for 1 year. Lately, the child is not compliant with medications. What is the
most likely cause of his symptoms?

A

Adrenal insufficiency

86
Q

Child is presents with fatigue, nausea, weight loss, hypotension, volume depletion, and diffuse hyperpigmentation

A

Addison disease

87
Q

Child with type 1 diabetes mellitus, well
controlled, suddenly develops hypotension and
shock

A

Addison disease

88
Q

Best initial treatment for a patient with diabetic
ketoacidosis within the first hour who presents
with volume depletion, e.g., tachycardia,
prolonged capillary refill time, and elevated blood urea nitrogen and creatinine

A

IV hydration: 10 mL/kg of intravenous normal
saline over 1 h

89
Q

The most common cause of death in children who have type 1 diabetes

A

Diabetic ketoacidosis (DKA)

90
Q

What is the most common cause of recurrent
DKA?

A

Insulin omission

91
Q

The most common cause of death related to DKA in children

A

Cerebral edema

92
Q

Adolescent female presents with recurrent vaginal candidiasis, BMI > 97th percentile, hypertension, acanthosis nigricans. What is the next best step?

A

Fasting blood glucose level

93
Q

Adolescent female presents with polyuria,
polydipsia, BMI > 97th percentile, hypertension,
acanthosis nigricans; her blood glucose level is
200 mg/dL, A1C is 7%. What is the best
treatment?

A

Metformin

94
Q

Adolescent female presents with polyuria,
polydipsia, BMI > 97th percentile, hypertension,
acanthosis nigricans; her blood glucose level is
350 mg/dL, A1C is 10%. What is the best initial
treatment?

A

Insulin
Blood glucose level ≥ 250 mg/dL, A1C ≥ 8.5%
insulin is the best initial treatment

95
Q

What is the A1C goal recommended by the
American Diabetes Association for all pediatric
age-groups with type 1 diabetes mellitus?

A

A1C target < 7.5% should be considered but
individualized

96
Q

A 3-day-old infant, 10 lbs at birth, jittery

A

Infant of a diabetic mother with hypocalcemia

97
Q

A 9-year-old male with sweating, jitteriness, and
tachycardia with sudden onset of symptoms

A

Hypoglycemic episode
Treatment: 15 g of carbohydrate

98
Q

A 9-year-old male who has altered mental status
glucose is noted to be 45 mg/dl. Best treatment?

A

IM glucagon

99
Q

An infant with a history of tetralogy of Fallot
presents with jitteriness and muscle twitching that has been worsening over the past few days. Blood glucose level is 85 mg/dL, and the calcium level is 7 mg/dL. What is the most likely cause?

A

Hypoparathyroidism

100
Q

A 5-day-old infant, small jaw, broad nose,
tetralogy of Fallot, seizure

A

DiGeorge/velocardiofacial (VCF)

101
Q

A 3-month-old male with elfin facies, supravalvular aortic stenosis, now with serum Ca of 12.2

A

Williams syndrome

102
Q

A 4-day-old male with hypoglycemia,
omphalocele, hemihypertrophy

A

Beckwith–Wiedemann syndrome

103
Q

Which childhood tumor is associated with
Beckwith–Wiedemann syndrome?

A

Wilms tumor

104
Q

A 10 lb plethoric neonate, requiring 15 mg/kg/min dextrose infusion. The mother without gestational diabetes mellitus (DM)

A

Congenital hyperinsulinism

105
Q

A 5-year-old male previously healthy with throat
pain and loss of appetite for 2 days, suddenly starts feeling dizzy, jittery, becomes unconscious in ER; the glucose level is 37 mg/dL, high level of serum and urine ketone, undetectable serum insulin, elevated serum cortisol, and growth hormone. What is the most likely cause?

A

Ketotic hypoglycemia (treatment is IV dextrose)

106
Q
A
107
Q

An 18-month-old thin boy with mild fever
overnight presents with loss of consciousness and hypoglycemia

A

Ketotic hypoglycemia (diagnosis of exclusion)

108
Q

A 5-day-old male with a small phallus, jaundice,
now with glucose of 45 mg/dl and ketones in urine after 4 h of fasting

A

Hypopituitarism (adrenocorticotropic hormone
(ACTH), growth hormone (GH) deficiency)

109
Q

A 6-year-old with nighttime headaches, height has fallen from 25th percentile to 5th percentile over 1 year. Enuresi

A

Intracranial tumor in the region of the pituitary

110
Q

An 18-month-old male, length, and weight
“stalled” for 9 months. Stools remarkably odorous

A

Celiac/malabsorption

111
Q

What are the components of metabolic syndrome?

A

Impaired glucose
Low HDL
High triglycerides
Elevated blood pressure
Central obesity

Pediatric Questions (31 decks)

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