Congenital Adrenal Hyperplasia

Question 1

Ultimately, what happens in Congenital Renal Hyperplasia ?

Answer 1

1. ⬇️Hypocorticolism
2. ⬆️ACTH
3. Adrenal Hyperplasia

Question 2

Roughly speaking, what happens in 7a-hydroxylase deficiency ?

Answer 2

1. ⬆️Mineralocorticoids
   (⬇️Aldosterone/⬆️11-deoxycorticosterone)
2. ⬇️Adrenal Androgens
3. ⬇️Cortisol

Question 3

Roughly speaking, what happens in 21b-hydroxylase deficiency ?

Answer 3

1. ⬇️ Aldosterone and Mineralocorticoids
2. ⬇️Cortisol and glucocorticoids
3. ⬆️Androgens

Question 4

Roughly speaking, what happens in 11b-hydroxylase deficiency ?

Answer 4

1. ⬆️Deoxycorticosterone
2. ⬇️Cortisol
3. ⬆️Androgens

Question 5

21b-hydroxylase function ?

Answer 5

MINERALOCORTICOIDS
1. Progesterone —> 11-deoxycorticosterone

GLUCOCORTICOIDS
1. 21-hydroxyprogesterone —> deoxycortisol

Question 6

17a-hydroxylase function?

Answer 6

1. Pregenolone —> 17-hydroxypregnenolone —> DHEA

2. Progesterone —> 17-hydroxyprogesterone —> Androstenedione

Question 7

11b-hydroxylase function?

Answer 7

MINERALOCORTICOIDS
11-deoxycorticosterone —> corticosterone

GLUCOCORTICOIDS
11-deoxycortisol —> cortisol

Question 8

11-deoxycorticosterone is a weak ___?

Answer 8

Mineralocorticoid

Question 9

Main symptoms or signs in 11b-hydroxylase deficiency?

Answer 9

1. Female virilization

Question 10

Main symptoms or signs in 17a-hydroxylase deficiency?

Answer 10

1. XY: ambiguous genitals and undescended testes

2. XX: failure to develop secondary sexual characteristics

Question 11

Main symptoms or signs in 21b-hydroxylase deficiency?

Answer 11

1. XX: virilization

2. XY: precocious puberty

Question 12

Most common enzyme deficiency in Congenital Adrenal Hyperplasia?

Answer 12

21b-hydroxylase deficiency