Congenital Adrenal Hyperplasia and other things!

Question 1

Embryological origin of the medulla and cortex of the adrenal gland?

Answer 1

medulla-ectoderm

cortex-mesoderm

Question 2

What is the most common tumor of the adrenal medulla in adults? Children?

Answer 2

Adults–pheochromocytoma

Children-neuroblastoma

Question 3

What is the most common location for an adrenal gland tumor?

Answer 3

cortex

Question 4

Which type of HTN is produced by pheochromocytoma v. neuroblastoma

Answer 4

pheochromocytoma–episodic HTN

neuroblastoma–HTN rare, when present–>sustained

Question 5

How does 17-alpha hydroxylase deficiency present in men? Women?

Answer 5

Men: ambiguous genitalia, undescended testes
Women: delayed secondary sexual characteristics

Question 6

What is the lab finding with 17-alpha hydroxylase deficiency?

Answer 6

Decreased androstenedione

Question 7

What is the presentation of 21 hydroxylase deficiency in men and women?

Answer 7

Men: salt wasting, precocious puberty
Women: virilization

Question 8

What is the lab finding in 21 hydroxylase deficiency?

Answer 8

increase in 17-hydroxyprogesterone

Question 9

Which substance is critical for the development of type II pneumocytes in utero? At which gestational age?

Answer 9

34 weeks

cortisol

Question 10

What are the features of 21 alpha hydroxylase deficiency?

Answer 10

Decreased aldosterone, cortisol
Increased androgens
Get hypotension and hyperkalemia
Get masculinization
get increased 17hydroxyprogesterone (directly upstream,screening test)

Question 11

What are the features of 11beta hydroxylase deficiency?

Answer 11

Decreased aldosterone, cortisol
Increased DOC (mineralcorticoid-like)
Increased androgens
HTN
Masculinization

Question 12

What are the features of 17alpha hydroxylase deficiency?

Answer 12

Decreased androgens
Increased aldosterone and decreased cortisol
Ambiguous genitalia, or lack of secondary sex characteristics in women
HTN, hypokalemia.

Question 13

THe lack of _____ in congenital adrenal hyperplasia (all forms) causes an increase in ____ which results in hyperplasia of the adrenal gland.

Answer 13

lack of cortisol

ACTH increases

Question 14

What does ketoconazole inhibit in the steroid synthesis pathway?

Answer 14

desmolase

Cholesterol–>Pregnenolone

Question 15

What does Ang II stimulate in the steroid synthesis pathway?

Answer 15

aldosterone synthase

Question 16

What does ACTH stimulate in the steroid synthesis pathway?

Answer 16

desmolase

end up with more aldosterone and cortisol etc.

Question 17

What does finasteride do to the steroid synthesis pathway?

Answer 17

inhibits 5alpha reductase

get decreased DHT, helps w/ male pattern baldness and BPH