Differences in Sexual Development

Question 1

21-Hydroxylase deficiency and 11B-hydroxylase deficiency can both lead to _____ androgen synthesis

Answer 1

Excess

Question 2

Key physical exam finding of 5-a-Reductase deficiency?

Answer 2

Testes fail to descend

Question 3

The key enzymatic level distinction of 21 hydroxylase salt-wasting vs non-salt wasting

Answer 3

NO ENZYME ACTIVITY IN SALT-WASTING

Question 4

Testosterone levels are ____ in a 17b-HSD3 defiency

Answer 4

Low

Question 5

Congenital adrenal hyperplasia results in ___ amounts of androgen

Answer 5

High

Question 6

Epididymis, Vasa deferens, seminal vesicles, and ejaculatory ducts all are originate from the _____ Ducts

Answer 6

Wolffian

Question 7

21-hydroxylase deficiency has 3 Forms:

Answer 7

1. Salt-wasting
2. Classic Non-Salt Wasting
3. Non-classic form

Question 8

What is the #1 clinical concern in BOTH female and male infants with severe 21-OHD (No enzyme)?

Answer 8

Severe Adrenal Insufficiency

Question 9

In the absence of androgens, the neonatal phenotype is _____

Answer 9

Female

Sertoli cells make AMH as a response to T

Question 10

In a 17a-OH/17,20 deficiency you get exclusively high levels of ______ along with high ACTH

Answer 10

Mineralocorticoid

Question 11

In a FEMALE, To screen for NON-Classic 21-hydroxylase deficiency you look for _____ levels

Answer 11

17a-OH-Progesterone

Question 12

What is the phenotype of males with severe 21-OHD?

Answer 12

No phenotype, can have hidden adrenal problems!

Question 13

Two key physical exam presentation of NON-classic (20-50% enzyme fxn) 21-Hydroxylase Deficiency

Answer 13

1. Hirsutism

2. Oligomenorrhea

Question 14

Key physical exam difference between 11B-hydroxylase deficiency and 21-OHD?

Answer 14

11B has mineralocorti oid excess and High BP!

Due to buildup of Deoxycorticosterone

Question 15

In regards to defective androgen synthesis; 17a-H/17,20lyase affects ______, whereas 5a-Reduct deficiency affects _____

Answer 15

• Adrenals & Testis

- Just testis

Question 16

17B-HSD3 is exclusive to the testis, therefore a deficiency results in high levels of ____ and low levels of _____

Answer 16

• Androstenedione

- Testosterone

Question 17

What happens to androgen production in a 17a-OH and 17,20 Lysase deficiency?

Answer 17

They all dip!

Question 18

Testosterone levels are _____ in a 5a-Reducatase deficiency

Answer 18

Normal

Question 19

DHT regulates development of the ____ and male external genitalia

Answer 19

Prostate

Question 20

How to differentiate 11-OHD and 17a-OH/17,20 in a male since they both have Mineralocorticoid Excess?

Answer 20

17a-OH/17,20 will have XY Female External Genitalia

17 has low T and E levels

Question 21

In 11B-Hydroxylase deficiency you get a buildup of the precursor ______

Answer 21

Deoxycorticosterone (DOC)

Question 22

What genetic pattern do Congential Adrenal Hyperplasias usually have?

Answer 22

Autosomal Recessive

Question 23

What do genitalia with 21-OH deficiency with 20-50% enzyme function look like?

Answer 23

NORMAL

Question 24

More than 95% of CAH is due to mutations in ______ (CYP21A2)

Answer 24

21-Hydroxylase