Endocrine

Collected by Dr.Mahmoud Eid from pediatric board study guide book

80 Case

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

Constitutional growth delay

2. Short child, growth velocity is 5 cm/year, bone age is consistent with

chronological age, father and mother are short

Genetic/familial short stature

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

microphallus

Growth hormone deficiency

4. Common hormone deficiency associated with: central incisors, septo-optic

dysplasia, cleft lip, cleft palate, and microphallus

Growth hormone deficiency

5. Pseudotumor cerebri, slipped capital femoral epiphysis and gynecomastia

are possible side effect of which hormonal therapy

Growth hormone

6. A 7-year-old boy with progressive headache, vomiting without nausea,

bitemporal hemianopsia, short stature, weight gain, and fatigue

Craniopharyngioma
7. A 7-year-old boy, at birth was large for gestational age, macrocephaly, 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

Cerebral gigantism (Soto syndrome)

8. Boy with hypoplasia of optic nerves, nystagmus, absence of septum

pellucidum, schizencephaly, seizures, hypopituitarism, presented with
hypoglycemia, jaundice, and micropenis at birth

Septo-Optic dysplasia (De Morsier syndrome)

9. A 17-year-old female, amenorrhea, headache, galactorrhea, visual field

defect, pregnancy test is negative, serum prolactin is >200 mg/dL. MRI
showed a pituitary mass of 15 mm with encroachment on optic chiasm

Prolactinoma (Macroadenoma)

10. A 17-year-old boy, no signs of puberty, penis and testicles are pre-pubertal,
and anosmia

Kallmann syndrome (Hypogonadotropic hypogonadism)

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

Klinefelter syndrome 47, XXY karyotype

12. 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

Turner syndrome; 45, X karyotype

13. The most common cardiac defect associated with Turner syndrome

Bicuspid aortic valve

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

Turner syndrome; 45, X karyotype

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

Noonan syndrome (mutations in the RASMAPK pathway)

16. High school girl, tall, poor academic performance, muscle weakness,
behavioral and emotional difficulties

Triple X syndrome 47,XXX karyotype

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

age

Denys–Drash syndrome

18. 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

Swyer syndrome (XY pure gonadal dysgenesis)

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

5-alpha reductase deficiency (autosomal recessive)

20. 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, no sexual hair, normal male adult height,
testosterone level is normal

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

21. The most common cause of congenital hypothyroidism

Thyroid dysgenesis

22. Low free T4, elevated thyroid-stimulating hormone (TSH)

Primary hypothyroidism

23. Low free T4, normal or low TSH

Central hypothyroidism

24. High free T4 and T3, low TSH

Hyperthyroidism (most common)

25. Normal or low free T4, high T3, low TSH

Hyperthyroidism (less common)

26. Normal T4, low T3, normal TSH, the patient has pneumonia

Euthyroid sick syndrome

27. Low total T4, normal free T4, normal TSH

TBG (Thyroxine-binding globulin deficiency), hypoproteinemia, e.g.,

malnutrition and nephrotic syndrome
28. Adolescent with thyroid enlargement, no symptoms, TSH and free T4 are
within reference range, positive anti-thyroid peroxidase (TPO)

Hashimoto thyroiditis

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

Thyrotropin receptor-simulating immunoglobulin (TSI)

30. The most common symptom of hyperthyroidism or Graves disease

Weakness

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

Transient urticarial rash

32. The best diagnostic test for solitary thyroid nodule

Fine needle aspiration biopsy; US guided

33. The most common thyroid cancer in pediatric patients

Well differentiated thyroid (follicular/papillary) carcinoma

34. Medullary thyroid cancer, hyperparathyroidism, pheochromocytoma

MEN-2A

35. Medullary thyroid cancer, pheochromocytoma, mucosal neuroma

MEN-2B

36. Calcitonin is elevated in which type of thyroid cancer?

Medullary thyroid cancer

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

Vitamin D deficiency “Rickets”

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

Hypophosphatemic rickets or X-linked hypophosphatemic rickets

39. What is the mode of inheritance of hypophosphatemic rickets?

X-linked dominant

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

Albright hereditary osteodystrophy (Pseudohypoparathyroidism type 1A)

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

Oculocerebrorenal dystrophy. (Lowe syndrome)

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

Prader–Willi syndrome

43. What is the chromosomal deletion of Prader–Willi syndrome?

Paternal chromosome 15q11-q13 deletion

44. Obesity, retinitis pigmentosa, hypogonadism, intellectual disability (ID)

Bardet–Biedl syndrome or Laurence– Moon–Biedl syndrome

45. Adolescent female, obesity, acanthosis nigricans, HBA1c 6.9%, elevated
testosterone and luteinizing hormone (LH), hirsutism, no ovarian cysts noticed
on ultrasonography (US)

Polycystic ovary syndrome

46. Failure to thrive, microcephaly, intellectual disability (ID), ptosis, strabismus,

syndactyly, pyloric stenosis, and low-plasma cholesterol

Smith–Lemli–Opitz syndrome (autosomal recessive)

47. Polydipsia, hypernatremia, serum osmolarity >300 mOSm/kg, urine

osmolarity <300 mOSm/kg

Diabetes insipidus (DI)

48. Patient with meningitis on IVF, serum sodium (Na) 122 meq/L, serum
osmolarity 270 mOSm/kg, and high urine osmolarity

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)

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

Reduce IVF rate (fluid restriction)

50. Patient underwent a neurosurgery for a brain tumor, develops hyponatremia,

high urine output, hypovolemic, high urine Na

Cerebral salt wasting

51. Patient with diabetes insipidus come in for water deprivation test, after
administration of DDAVP (desmopressin) the urine become concentrated

Central diabetes insipidus

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

Nephrogenic diabetes insipidus

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

Between stage 2 and 3 SMR

54. The height acceleration peak in boys is at which SMR stage?

Between stage 4 and 5 SMR

55. How many years after breast development does menarche start?

2.5 years (approximately)

56. A 5-year-old boy complaining of headaches in the past few months, penis/
testicles are large for age, bone age is advanced

Central precocious puberty

57. A 4-year-old girl with rapid breast development, large brown birthmark, and
recent arm pain of unknown source

McCune–Albright syndrome

58. 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

Premature adrenarche

59. What is the treatment for a patient with congenital adrenal hyperplasia who
presents with vomiting and low blood pressure?
IV hydrocortisone and IV fluid hydration

60. A child with obesity, height is <3rd percentile, blood pressure is >95th
percentile for age

Cushing syndrome

61. A child with Type 1 diabetes mellitus, well controlled, suddenly develop
hypotension and shock

Addison disease

62. A child with Type 1 diabetes mellitus with recurrent abdominal pain for 3
months. What is the best screening test?

Celiac panel

63. Best initial treatment for a patient with ketoacidosis within the first hour

IV hydration

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

Diabetic ketoacidosis (DKA)

65. The most common cause of death related to DKA in children

Cerebral edema

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

acidosis

CAH 21-OH deficiency

67. A 3-day-old baby, 10 lbs at birth, jittery

Infant of diabetic mother with hypocalcemia

68. A 5-day-old baby, small jaw, broad nose, tetralogy of fallot, seizure

DiGeorge/VCF

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

Williams syndrome

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

Beckwith–Wiedemann syndrome

71. A 10 lbs plethoric neonate, requiring 15 mg/kg/min dextrose infusion. Mother

without gestational diabetes mellitus (DM)

Congenital hyperinsulinism

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

Ketotic hypoglycemia (diagnosis of exclusion)

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

Hypopituitarism (Adrenocorticotropic hormone (ACTH), growth hormone

(GH) deficiency)

74. A 6-year-old with nighttime headaches, height is falling from 25th percentile
to 5th percentile over 1 year. Enuresis

Intracranial tumor in region of pituitary

75. An 18-month-male, length and weight “stalled” since 9 months. Stools

remarkably odorous
Celiac/malabsorption

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

Hypothyroidism (likely Hashimoto’s)

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

Benign premature thelarche

78. A 4-year-old female with new onset bilateral breast enlargement

Central precocious puberty is very likely

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

Simple virilizing CAH-21 OH deficiency

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

Graves hyperthyroidism