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Pediatric Board Prep > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

What is the most likely diagnosis for newborn presenting with hypoglycemia, omphalocele, and macroglossia?

A

Beckwith Wiedemann syndrome

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2
Q

What is the best initial treatment for type 2 diabetes?

A

Metformin (GI upset), diet and exercise

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3
Q

what are the critical labs for hypoglycemia? (6)

A
  1. glucose
  2. insulin
  3. C-peptide
  4. ketones
  5. growth hormone
  6. cortisol
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4
Q

What is the most likely diagnosis for pt presenting with history of large for gestational age, macrocephaly at birth, large hands and feet, accelerated growth for first 5 years of life, generalized hypotonia, intellectual impairment and prominent forehead?

A

Sotos syndrome

cerebral gigantism

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5
Q

What is the typical timing of maximal growth velocity in pubertal female?

A

immediately following thelarch around 11-12 years old

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6
Q

what is the most likely diagnosis for pt presenting with delayed pubertal development (no body/facial hair, no muscle mass, small testicular volume), red-green color blindness, neurosensory hearing loss, anosmia (inability to smell), mirror movements (involuntary movements mirroring contralateral voluntary hand movement) and cleft palate?

A

Kallmann syndrome

hypogonadotropic hypogandism

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7
Q

What is the most likely diagnosis for pt presenting with tanned hyperpigmented skin, fatigue, malaise, weight loss, vomiting, orthostatic hypotension, hyperkalemia (associated EKG changes like peaked T waves), and hyponatemia?

A

Addison’s disease (adrenal insufficiency)

elevated ACTH and melanocyte stimulating hormone

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8
Q

what is the most likely diagnosis for pt presenting with normal growth velocity, normal bone age, short stature and other family members with short stature?

A

Familial short stature

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9
Q

what is the most likely diagnosis for pt presenting with precocious puberty, large segmental cafe au lait pigementation with irregular borders, hyperthyroidism and polyostitic fibrous dysplasia?

A

McCune-Albright syndrome

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10
Q

what are the expected LH and FSH levels in a Turner’s patient presenting with amenorrhea?

A

elevated FSH and LH

due to primary hypogonadism, ovaries not responding to hormone

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11
Q

What is the most likely diagnosis for a pt presenting with sudden arrest of growth in later childhood or adolescence?

A

Tumor (such as craniopharyngioma which is associated with HPA dysfunction)

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12
Q

What electrolyte imbalance can occur after a significant head injury or cancer?

A

Hyponatremia (due to SIADH)

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13
Q

What is the most likely diagnosis of pt presenting with a unilocular, echogenic thin walled ovarian cyst less than 6 cm in size in the setting of cigarette smoking?

A

Follicular ovarian cyst

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14
Q

What autoimmune disorders are associated with Turner syndrome? (2)

A
  1. Celiac disease

2. Thyroid disease

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15
Q

What endocrine disorder is associated with slipped capital femoral epiphysis (SCFE)?

A

Hypothyroidism

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16
Q

What is the most likely diagnosis for pt presenting with retinitis pigmentosa, obesity, developmental delay, hypogonadism, and polydactyly?

A

Laurence-Moon-Biedl syndrome

Bardet-Biedl syndrome

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17
Q

What is the most likely diagnosis for pt presenting with small fibrotic testes, Barr body on karyotype (condensed chromatin on inactive X chromosome), gynecomastia, poor social skills, learning difficulties, low testosterone, and normal arm span?

A

Klinefelter syndrome

(47,XXY)

(tx: testosterone)

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18
Q

What is the most likely diagnosis for infant (more than 3 days old) who presents with hypocalcemic seizure?

A

Hypoparathyroidism

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19
Q

What is the most likely diagnosis for pt presenting with Xray showing lucent lesions with homogeneous matrix resembling ground glass appearance due to loss of trabecular pattern?

A

fibrous dysplasia

polyostotic lesions associated with McCune Albright syndrome

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20
Q

What is the most likely diagnosis for pt presenting with midline defect (cleft palate/ lip, septooptic dysplasia) and delayed eruption of teeth with single central maxillary incisor?

A

Growth hormone deficiency

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21
Q

what is the lab finding associated with polycystic ovarian syndrome?

A

elevated testosterone

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22
Q

What is the most likely diagnosis for newborn presenting with hypoglycemia, direct hyperbilirubinemia, and micropenis?

A

Congenital Growth Hormone deficiency

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23
Q

what is the next best step in management of pt presenting with positive newborn screen for congenital adrenal hyperplasia and poor weight gain?

A

17 OHP (alpha hydroxyprogesterone; elevated) and electrolytes

24
Q

What is the 1st line treatment for polycystic ovarian syndrome (PCOS)?

A

combined Oral contraceptive pills and spironolactone

25
Q

What is the recommendation for ophthalmologic screening for type 1 diabetics?

A

yearly if older than 10 years old, after 5 years of disease

26
Q

What is the most likely diagnosis for a newborn with abnormal newborn screen, normal TSH, low T4 and normal free T4?

A

Thyroxine-binding globulin deficiency

27
Q

What is the most likely diagnosis for newborn presenting with hypoglycemia, agenesis of septum pellucidum, micropenis and direct hyperbilirubinemia?

A

Septo-optic dysplasia

hypopituitarism- growth hormone deficiency; can also have ACTH/ TSH/ LH/ FSH deficiency

28
Q

what is the most likely diagnosis for pt presenting with long penis, premature pubic hair, tall stature and hypertension?

A

11-beta hydroxylase deficiency

(2nd most common type of CAH)

(results from buildup of 11-deoxycorticosterone)

29
Q

what medical condition can result in sudden death if given growth hormone?

A

Prader-willi syndrome

due to obstructive sleep apnea worsening

30
Q

What is the risk factors for developing cerebral edema in a pt with DKA? (2)

A
  1. new onset diabetes

2. age less than 5 years old

31
Q

What is the 1st clinical finding in an infant that has congenital hypothyroidism?

A

prolonged physiologic jaundice

32
Q

What is the difference in cardiac abnormalities between Noonan syndrome and Turner syndrome?

A

Noonan: right sided
Turners: left sided

33
Q

what is the most likely diagnosis for pt presenting with ADHD like symptoms, learning disabilities that progresses to gait disturbance, visual deficits, seizures and found to have symmetric periventricular demyelination in the posterior cerebral white matter?

A

X-linked adrenoleukodystrophy

dx: elevated very long chain fatty acids

34
Q

What is the most likely diagnosis for pt presenting with galactorrhea, growth delay, and primary amenorrhea?

A

Pituitary tumor

hypersecretion of prolactin, LH/FSH

35
Q

What is the most likely diagnosis for female pt presenting with primary amenorrhea, intra-abdominal gonads, elevated testosterone level and no mullerian structures (uterus)?

A

complete androgen insensitivity syndrome

externally female, karyotype XY

36
Q

what are the 3 disorders associated with a diagnosis of autoimmune polyglandular syndrome type 2?

A
  1. Autoimmune thyroid disease
  2. Addison’s disease
  3. Type 1 diabetes
37
Q

What is the most likely diagnosis for pt presenting with short stature, short toes and fingers, family history of similar appearance, weight percentile greater than height and PTH resistance (elevated PTH, low Ca)?

A

Pseudohypoparathyroidism

38
Q

What is the electrolyte abnormality associated with Addison’s disease (adrenal insufficiency)? (3)

A
  1. hyponatremia
  2. hyperkalemia
  3. metabolic acidosis
39
Q

What is the genetic defect associated with Kallman syndrome?

A

mutation in ANOS1 gene on Xp22.3

migration gene defect

40
Q

What is the peak height velocity for males and when does it occur?

A

9-10 cm/ year; 13.5 years old (10.5-16 years)

41
Q

What is the treatment for adrenal crisis (severe adrenal insufficiency)?

A

IV crystalloid with dextrose and IV hydrocortisone

42
Q

What is the most common cardiac defect in Turner syndrome?

A

nonstenotic bicuspid aortic valve

43
Q

What is the most likely diagnosis for pt presenting with midline, cyst-like mass at level of hyoid bone that moves upward with swallowing?

A

Thyroglossal duct cyst

44
Q

Which progestin is best suited to be in the combined oral contraceptive pill used to treat PCOS (polycystic ovarian syndrome)?

A

Drospirenone

lowest androgen effect so will not stimulate acne and hair growth

45
Q

What is the treatment for hypophosphatemic rickets (normal Ca, low phos, normal/elevated PTH)?

A

Phosphorus and calcitriol (vitamin D)

46
Q

What is the cause for Grave’s disease (type of hyperthyroidism)?

A

Thyroid stimulating immunoglobulins

47
Q

What sexual maturity rating stage does menarche occur?

A

stage 4

48
Q

A female with breast and papilla with slightly larger mound beyond the areola with a smooth contour and darkly pigmented, slightly curly hair on the labia and spreading to mons pubis is at what sexual maturity rating?

A

stage 3

49
Q

What is the best initial test for Cushing syndrome (rapid weight gain, fatigue, exercise intolerance, muscle weakness, hyperandrogenism, and decreased linear growth velocity)?

A

24 hour urinary free cortisol level

50
Q

What is the sequence for male puberty?

A
  1. testicular enlargement
  2. phallic growth
  3. pubic hair
  4. spermache, acne, axillary perspiration
51
Q

What is the best initial treatment for suspected cerebral edema (that may occur with inappropriate glucose correction in DKA)? (2)

A
  1. mannitol

2. hypertonic saline

52
Q

What is the best initial test for patients presenting with precocious puberty?

A

LH and FSH levels

53
Q

What is the cause of central precocious puberty (puberty in girls younger than 8 and boys younger than 9)?

A

early pulsatile GnRH secretion

54
Q

What is the most likely diagnosis for patient presenting with virilization, hypertension and hpokalemia?

A

11-beta- hydroxylase deficiency

second most common type of congenital adrenal hyperplasia

55
Q

What gene defect is likely responsible for a phenotypic female who has karyotype XY?

A

SRY (sex determining region Y) gene

56
Q

What are the laboratory findings associated with congenital adrenal hyperplasia (CAH)? (4)

A
  1. hyperkalemia
  2. hyponatremia
  3. hypoglycemia
  4. acidosis
57
Q

What is the most likely diagnosis of an undervirilized male with normal testosterone and elevated testosterone to dihydrotestorone ratio?

A

5-alpha reductase deficiency

Pediatric Board Prep (26 decks)

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