Pathology

Question 1

17-alpha-hydroxylase deficiency

Answer 1

Can’t escape MC pathway
Excess MC: high BP, low K
Low GC
Low SS: low androstenedione
Hyperplastic adrenals from increased ACTH from low cortisol and skin hyperpigmentation
XY: ambiguous genetalia, undescended testes
XX: lacks 2˚ sex characteristics

Question 2

21-hydroxylase deficiency

Answer 2

Stops early steps in MC and GC pathway; shunt to SS
Low MC: Low BP, High K: high renin
Low GC: high 17-hydroxyprogesterone
High Sex Steroids
MOST COMMON: infant salt wasting/ precocious puberty
XX: with virilization

Question 3

11-beta-hydroxylase deficiency

Answer 3

Low MC; but 11-deoxycorticosterone has MC so high BP, low K, low renin
Low GC
High SS: XX virilization