Endo II Flashcards
ADH
synthesized supraoptic nuclei
-released posterior pituitary
V2 receptor
for ADH - regulate serum osmolarity
mutation - nephrogenic DI
V1 receptor
for ADH - regulate blood pressure
nephrogenic DI
mutation V2 receptor
central DI
ADH level decreased
cholesterol desmolase
stimulated by ACTH
-convert cholesterol to pregnenolone
pregnenolone - start substrate for adrenal steroids
ketoconazole
inhibit cholesterol desmolase
less cholesterol to pregnenolole
17a hydroxylase deficiency
excess aldosterone
- low cortisol
- low sex hormones
increase BP and hypoK - aldosterone effect
decreased androstenedione
boy with 17a hydroxylase deficiency
ambiguous genitalia
undescended testicles
HTN, hypoK
girl with 17a hydroxylase deficiency
lack secondary sex development
HTN, hypoK
21 hydroxylase deficiency
low aldosterone
- low cortisol
- hgh sex hormone
decreased BP and hyperK - lack of aldosterone
labs - increased renin and increased 17-hydroxyprogesterone
MC
girl with 21 hydroxylase deficiency
virilization and precocious puberty
low BP and hyper K - low aldosterone
low cortisol
11-B hydroxylase deficiency
low aldosterone - but elevated 11-deoxycorticosterone (weak mineralocorticoid)
decreased cortisol
increased sex hormone
HTN and hypoK
decreased renin activity
girl with 11-B hydroxylase deficiency
virilization
aromatase
convert testosterone > estrogen
5-a reductase
convert testosterone > DHT