Congenital Adrenal Hyperplasia

Question 1

Most common enzymatic effect in CAH ____ leads to build up of ____

Answer 1

21-hydroxylase deficiency; 17- hydroxyprogesterone

Question 2

Maintenance glucocorticoid in kids

Answer 2

hydrocortisone

Question 3

The 21-hydroxylase deficiency shunts everything to create more __ and less __

Answer 3

androgens; mineralocorticoids and glucocorticoids

Question 4

Males or Females are much greater risk for adrenal crisis if they are CAH positive

Answer 4

males

Question 5

CAH only causes ___ genital changes

Answer 5

external

Question 6

Salt wasting infants have both __ and __ deficiency

Answer 6

mineralocorticoids; glucocorticoids

Question 7

Simple virilizing only affects the ___ pathway

Answer 7

glucocorticoids

Question 8

Non-classical CAH has early __ development and __ on face

Answer 8

puberty; acne

Question 9

Simple Virilization and Non-classical CAH has advanced _ _

Answer 9

bone age

Question 10

All 50 states measure ___ on newborn screen to catch salt wasters

Answer 10

17-OH progesterone

Question 11

11-β-hydroxylase deficiency presents with ___ due to precursor effect, treat with __

Answer 11

hypertension; glucocorticoid with antihypertensive

Question 12

___ ___ deficiency blocks both glucocorticoid and mineralocorticoid production and males have ___ genitalia

Answer 12

Three Beta; ambiguous

Question 13

17-hydroxylase/17,20 lyase deficiency block __ and __ production in males and treatment is

Answer 13

testosterone, DHT; testosterone plus glucocorticoids

Question 14

StAR deficiency blocks ___ and all kids have __ phenotype

Answer 14

all hormones, female