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Pedi-Boards > Endocrine > Flashcards

Endocrine Flashcards

1
Q

McCune Albright Syndrome

A

Fibrous dysplasia
Hyperfunctioning endocrinopathy (precocious puberty, hyperthyroidism, hyperadrenalism)
Cafe-au-lait spots

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2
Q

Delayed puberty

A

no sign of pubertal development by age 13 years in girls (no breast development) and 14 years in boys (no growth of testes or penis)

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3
Q

Constitutional delayed puberty

A

Normal bone age, family history of delayed puberty,

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4
Q

Kallman syndrome

A

Normal height in childhood, delayed puberty (absent growth spurt), anosmia
LH/FSH low
GnRH stim test pre-pubertal or no response

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5
Q

Turner syndrome

A

Short stature, webbed neck, bicuspid aorta
Karyotype 45 XO
shield chest, wide-spaced nipples, wide carrying angle of upper arms, high-arched palate, gonadal failure, kidney dysplasia, and aortic arch abnormalities

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6
Q

Hypothalamic Pituitary Tumor

A

Decreased growth velocity, GnRH stim test has no response / low

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7
Q

Klinefelter syndrome

A

Karyotype 47 XXY
Tall, delayed puberty
LH/FSH high

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8
Q

5 alpha reductase deficiency

A

46 XY with female or ambiguous genitalia

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9
Q

Medication related to gynecomastia

A

ketoconazole, spironolactone, exogenous hormones (androgens, anabolic steroids, estrogens, growth hormone, gonadotropins), soy, marijuana, cimetidine, calcium channel blockers, and first-generation antipsychotics

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10
Q

Symptoms of anabolic steroid use

A

Patient exhibits changes in behavior—depression, irritability, or increased aggression
▪ In males: more rapid increase in muscle strength and mass compared with other athletes, gynecomastia, acne, small testes, low sperm density
▪ In females: irregular menstrual cycles, hirsutism, acne, breast atrophy, temporal hair recession, deepening voice, cliteromegaly, increased muscle mass, decreased body fat
▪ Can see high hematocrit, low serum LH, and low sex hormone binding globulin

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11
Q

Soto’s syndrome

A

Large size at birth
▪ Macrocrania
▪ Large ears
▪ Prominent mandible
▪ Subnormal intelligence
▪ Poor coordination

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12
Q

Beckwidth-Wiedeman Syndrome

A

Macrosomia
▪ Macroglossia
▪ Omphalocele
▪ Hypoglycemia
Risk of Wilm’s tumor

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13
Q

Primary hypoparathyroidism - Labs

A

Calcium - low
Phos - high
PTH - low
Vit D - normal

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14
Q

Pseudohypoparathyroidism - labs

A

Calcium - low
Phos - high
PTH - high
25 (OH)2 Vit D - normal

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15
Q

Vit D deficiency - labs

A

Calcium - low / normal
Phos - low
PTH - high
25 (OH)2 Vit D - low

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16
Q

Familial hypophosphatemic rickets - labs

A

Calcium - normal
Phos - low
PTH - normal (slightly elevated)
25 (OH)2 Vit D - normal

17
Q

Hyperparathyroidism - labs

A

Calcium - high
Phos - low
PTH - high
25 (OH)2 Vit D - normal

18
Q

Immobilization - labs

A

Calcium - high
Phos - high
PTH - low
25 (OH)2 Vit D - normal

19
Q

Drugs that can cause Adrenal insufficiency

A

Ketoconazole (direct steroidogenesis inhibition)
▪ Etomidate (direct steroidogenesis inhibition)
▪ Rifampin (increased liver metabolism of steroids)
▪ Phenytoin/phenobarbital (increased liver metabolism of steroids)

20
Q

Adrenoleukodystrophy

A

▪ An inherited disorder (most commonly X-linked) that results in impaired β-oxidation of very long chain fatty acids in peroxisomes and subsequent accumulation in body tissues and fluids
▪ The result is an adrenocortical deficiency and central nervous system (CNS) demyelination and neurodegeneration
▪ Classic presentation is late-childhood onset of subtle neurologic symptoms and progressive deterioration (i.e., dementia, vision/hearing loss) associated with adrenal insufficiency (which may develop before, coincident with, or after the neurologic symptoms)

21
Q

21-hydroxylase deficiency

A

Hypotension, virilization
Low aldosterone (2)
Increase testosterone (1)
Test - 17-OH-progesterone

22
Q

11B-hydroxylase deficiency

A

Hypertension, virilization
High aldosterone (1)
Increase testosterone (1)

23
Q

17A-hydroxylase deficiency

A

Hypertension, no virilization
High aldosterone (1)
Normal testosterone (7)

24
Q

Diseases associated with pheochromocytoma

A

Von Hippel Lindau
MEN
NF1
Tuberous Sclerosis

25
Q

MEN 1

A

3P
Pancreas
Parathyroid
Pituitary

26
Q

MEN2A

A

2P
Medullary thyroid carcinoma
Parathyroid
Pheochromocytoma

27
Q

MEN2B

A

1P
Medullary thyroid carcinoma
Pheochromocytoma
Mucosal neuromas

Pedi-Boards (13 decks)

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