Endocrine Flashcards
(27 cards)
McCune Albright Syndrome
Fibrous dysplasia
Hyperfunctioning endocrinopathy (precocious puberty, hyperthyroidism, hyperadrenalism)
Cafe-au-lait spots
Delayed puberty
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)
Constitutional delayed puberty
Normal bone age, family history of delayed puberty,
Kallman syndrome
Normal height in childhood, delayed puberty (absent growth spurt), anosmia
LH/FSH low
GnRH stim test pre-pubertal or no response
Turner syndrome
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
Hypothalamic Pituitary Tumor
Decreased growth velocity, GnRH stim test has no response / low
Klinefelter syndrome
Karyotype 47 XXY
Tall, delayed puberty
LH/FSH high
5 alpha reductase deficiency
46 XY with female or ambiguous genitalia
Medication related to gynecomastia
ketoconazole, spironolactone, exogenous hormones (androgens, anabolic steroids, estrogens, growth hormone, gonadotropins), soy, marijuana, cimetidine, calcium channel blockers, and first-generation antipsychotics
Symptoms of anabolic steroid use
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
Soto’s syndrome
Large size at birth
▪ Macrocrania
▪ Large ears
▪ Prominent mandible
▪ Subnormal intelligence
▪ Poor coordination
Beckwidth-Wiedeman Syndrome
Macrosomia
▪ Macroglossia
▪ Omphalocele
▪ Hypoglycemia
Risk of Wilm’s tumor
Primary hypoparathyroidism - Labs
Calcium - low
Phos - high
PTH - low
Vit D - normal
Pseudohypoparathyroidism - labs
Calcium - low
Phos - high
PTH - high
25 (OH)2 Vit D - normal
Vit D deficiency - labs
Calcium - low / normal
Phos - low
PTH - high
25 (OH)2 Vit D - low
Familial hypophosphatemic rickets - labs
Calcium - normal
Phos - low
PTH - normal (slightly elevated)
25 (OH)2 Vit D - normal
Hyperparathyroidism - labs
Calcium - high
Phos - low
PTH - high
25 (OH)2 Vit D - normal
Immobilization - labs
Calcium - high
Phos - high
PTH - low
25 (OH)2 Vit D - normal
Drugs that can cause Adrenal insufficiency
Ketoconazole (direct steroidogenesis inhibition)
▪ Etomidate (direct steroidogenesis inhibition)
▪ Rifampin (increased liver metabolism of steroids)
▪ Phenytoin/phenobarbital (increased liver metabolism of steroids)
Adrenoleukodystrophy
▪ 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-hydroxylase deficiency
Hypotension, virilization
Low aldosterone (2)
Increase testosterone (1)
Test - 17-OH-progesterone
11B-hydroxylase deficiency
Hypertension, virilization
High aldosterone (1)
Increase testosterone (1)
17A-hydroxylase deficiency
Hypertension, no virilization
High aldosterone (1)
Normal testosterone (7)
Diseases associated with pheochromocytoma
Von Hippel Lindau
MEN
NF1
Tuberous Sclerosis
