Endocrine Disorders Flashcards
Precocious puberty:
premature activation of HPG axis (hypothalamic dysfn)
Presentation: less dramatic than CAH; sequential
-penis enlargement…pubic hair growth…growth spurt
Precocious pseudo puberty:
congenital adrenal hyperplasia (CAH)
excess sex steroids (not gonadotropin process)
Presentation: severe androgen excess
-sudden acceleration in growth, enlarged penis,
coarse pubic/axillary hair; cystic acne
CAH: autosomal recessive
-result: inadequate cortisol and/or aldosterone synthesis
MC: 21-hydroxylase deficiency (>90%)
-decreased cortisol (reaction) increased ACTH (results in) adrenal hyperplasia + shunting to androgen synthesis
CAH: presentation
- vomiting, dehydration, hyponatremia (salt losing), hypoglycemia, hyperkalemia
CAH
- genitalia at birth in M & F
M: do not initially exhibit abnormalities; as they age
F: ambiguous genitalia at birth (masculinization later)
CAH: diagnosis
initial: increased 17 OH progesterone
labs: low cortisol, increased renin, decreased aldosterone
accurate: 17 OH progesterone before/after IV bolus ACTH
CAH: treatment
Hydrocortisone (glucocorticoid/cortisol replacement)
Fludrocortisone if salt-losing (mineralcorticoid/aldosterone)
-Increase both in times of stress; tx is lifelong (steroids)
-Corrective surgery for females
Delayed Puberty/Constitutional Puberty: Tests
Determine bone age with XR wrist;
- bone age < chronological age
Levels: decreased testosterone, LH, FSH
Delayed Puberty/Constitutional Puberty: Presentation
possible presentations:
- lacks testicular enlargement < 2.5 cm
- no axillary/pubic hair
- bone age < chronological age (e.g. 15yo with BA 12yo)
Delayed Puberty/Constitutional Puberty: Tx
Tx: reassurance, follow up in 3-6 months
21-hydroxylase deficiency:
Hypotension, Hyperkalemia - virilization
17-hydroxylase deficiency:
Hypertension, hypokalemia - delayed puberty
11-hydroxylase deficiency:
Hypertension, hypokalemia - virilization
