Adrenal enzyme deficiencies

Question 1

21-Hydroxylase deficiency

Answer 1

Dec mineralocorticoids
Dec cortisol
Inc Sex hormones
Dec BP
Inc potassium
Labs: inc renin and 17-hydroxyprogesterone
Presentation: presents in infancy (salt wasting) or childhood (precocious puberty). XX virilization

Question 2

11B-Hydroxylase deficiency

Answer 2

Dec aldosterone
Inc 11-deoxycorticosterone (weak mineralocorticoid)
Dec cortisol
Inc Sex hormones
Inc BP
Dec K
Labs: dec renin
Presentation: XX virilization

Question 3

3B-hydroxysteroid dehyrdogenase deficiency (3B-HSD)

Answer 3

Inability to produce: Glucocorticoids, mineralocorticoids, Androgens, Estrogens
Excessive sodium excretion in urine
Early death

Question 4

17a-Hydroxylase deficiency

Answer 4

Inc mineralocorticoids
Dec cortisol
Dec sex hormones
Inc BP
Dec K
Dec androstenedione
Presentation: XY pseudohermaphroditism (ambiguous genitalia, undescended testes), XX lack secondary sexual development.