Ch. 576 - Congenital Adrenal Hyperplasia and Related Disorders

Question 1

CAH is essentially a disorder of

Answer 1

Cortisol biosynthesis

Question 2

Causes >90% of CAH cases

Answer 2

21-hydroxylase deficiency

Question 3

CAH: Characteristic of affected females

Answer 3

Masculinized external genitalia

Question 4

T/F Males with CAH appear normal at birth

Answer 4

T

Question 5

Signs of androgen excess postnatally

Answer 5

Rapid somatic growth, accelerated skeletal maturation

Question 6

T/F In males with CAH, testes are usually prepubertal in size so that they appear relatively small in contrast to the enlarged penis

Answer 6

T

Question 7

Hyponat, hyperK, met acid, hypogly

Answer 7

Salt-losing CAH

Question 8

Markedly elevated in CAH and whose levels are the most reliable measure of the presence of 21OHase deficiency

Answer 8

17-OHprogesterone, measured before and 30 or 60 mins after IV bolus of ACTH

Question 9

Cortisol deficiency of 21-hydroxylase deficiency is treated with

Answer 9

Glucocorticoids in larger doses than in other forms of adrenal insufficiency

Question 10

Management for significantly virilized females with CAH

Answer 10

Surgery between 2-6 months of age

Question 11

T/F In 11-OHase deficiency, there is normal levels of aldosterone

Answer 11

T, some corticosterone is synthesized from progesterone by aldosterone synthase

Question 12

Majority or 65% of patients with 11OHase deficiency become hypertensive because

Answer 12

Elevated 11 deoxycorticosterone have mineralocorticoid activity

Question 13

T/F 11OHase deficiency is also characterized by androgen excess

Answer 13

T

Question 14

Management for 11OHase deficiency

Answer 14

Glucocorticoids in similiar doses to those for 21OHase def

Question 15

CAH with no signs of salt-wasting

Answer 15

11OHase deficiency (aldosterone synthesis is intact)

Question 16

CAH: Boys incompletely virilized, females mildly virilized with slight to moderate clitoral enlargement

Answer 16

3βHSD deficiency (excess of DHEA, which is a weak androgen; absence of testorsterone and androstenedione)

Question 17

CHA: Require glucocorticoid and mineralocorticoid replacement

Answer 17

21OHase and 3βHSD deficiency