Congenital Adrenal Hyperplasia

Question 1

Blocks pregnenolone–>progesterone
Pregnenolone accumulates; salt excretion in urine
All patients have female genitalia

Answer 1

3-B-hydroxysteroid dehydrogenase deficiency

Question 2

Mutation in StAR

Reduced transport of cholesterol to mito matrix–>loss of most steroid production

Answer 2

Lipoid congenital adrenal hyperplasia

Question 3

Shunts everything to the aldosterone pathway
No sex hormones or cortisone produced–>all patients have female genitalia
Increased aldosterone production–>sodium and fluid retention that lead to hypertension

Answer 3

17-a-hydroxylase deficiency

Question 4

Most common

Glucocorticoids and mineralocorticoids absent or deficient, overproduction of sex steroids

Answer 4

21-a-hydroxylase deficiency

Question 5

Decreased cortisol, aldosterone, and corticosterone; increased deoxycorticosterone

Answer 5

11-B-hydroxylase deficiency