I: Embryology/CAH

Question 1

Development of the bipotential gonad begins at week __ gestation.

Answer 1

5

Question 2

Primordial germ cells migrate from the yolk sac to the genital ridges during week __ gestation.

Answer 2

6

Question 3

____ syndrome: absent/underdeveloped Mullerian structures in a 46,XX female.

Answer 3

Rokitansky

Question 4

_____ produced by Leydig cells promote development of ______ structures.

Answer 4

Testosterone; Wolffian

Question 5

______ is the factor responsible for male differentiation during fetal development.

Answer 5

SRY

Question 6

_____: failure of testes to reach scrotal sac

Answer 6

Cryptorchidism

Question 7

AMH is produced by _____ cells.

Answer 7

Sertoli

Question 8

In females with 21-hydroxylase deficiency, ____ anatomy is normal and _____ anatomy is virilized.

Answer 8

internal; external

Question 9

Leydig cells begin secreting testosterone at wekk __ gestation.

Answer 9

8

Question 10

Leydig cells receive stimulation by _____ during the first trimester and _____ during the second and third trimesters.

Answer 10

hCG, LH

Question 11

Male external genitalia complete by ___ weeks gestation.

Answer 11

13

Question 12

Name 3 derivates of the Mullerian system.

Answer 12

Fallopian tubes, uterus, upper vagina

Question 13

Name 3 derivatives of the Wolffian duct system.

Answer 13

Epididymis, Vas deferens, seminal vesicle

Question 14

Name 4 causes of 46,XX DSD.

Answer 14

Congenital Adrenal Hyperplasia, Ovotesticular DSD, SRY Translocation (Sex reversal), Gestational Hyperandrogenism

Question 15

Name 4 causes of 46,XY DSD.

Answer 15

Gonadal Dysgenesis, Steroidogenesis Defects, Androgen Insensitivity Syndrome, 5-alpha-reductase deficiency

Question 16

Normal stretched penile length at birth: __

Answer 16

2.5cm

Question 17

Penile growth and penile urethra development are particularly reliant on stimulation by _____.

Answer 17

DHT

Question 18

Testes descend into the scrotum by ___ weeks gestation

Answer 18

33

Question 19

The genital tubercle gives rise to the _____.

Answer 19

Penis, clitoris

Question 20

The labia majora and scrotum are derived from the ______.

Answer 20

Labial-Scrotal Swellings

Question 21

The penile urethra and labia minora are derived from the ______.

Answer 21

Urethral folds

Question 22

The penis and clitoris are derived from the ______.

Answer 22

Genital tubercle

Question 23

The urethral folds give rise to the _____.

Answer 23

Penile urethra and labia minora

Question 24

What is a diagnostic test for 21-hydroxylase deficiency?

Answer 24

17-hydroxyprogesterone level

Question 25

Which adrenal enzyme deficiencies often present with hypertension?

Answer 25

11-Beta-Hydroxylase, 17,20-lyase, 17-alpha-hydroxylase

Question 26

Which adrenal enzyme deficiencies present with salt wasting?

Answer 26

STAR deficiency, 3-Beta-Hydroxysteroid Dehydrogenase, 21-Hydroxylase

Question 27

Which adrenal enzyme deficiencies present with virilization in boys and girls?

Answer 27

21-hydroxylase, 11-Beta-hydroxylase

Question 28

Which adrenal enzyme deficiency is most common?

Answer 28

21-hydroxylase

Question 29

Which adrenal enzyme deficiency presents with overvirilization in girls and undervirilization in boys?

Answer 29

3-Beta-Hydroxysteroid Dehydrogenase

Question 30

Which male transcription factors increase expression of AMH?

Answer 30

SOX-9, SF-1

Question 31

Which process? Normal female external genitalia with absence of Mullerian or Wolffian duct structures, intra-abdominal or inguinal gonads

Answer 31

Androgen Insensitivity Syndrome

Question 32

Which process? Streak gonads and normal external female genitalia, present at puberty with amenorrhea and delayed puberty, 46,XY

Answer 32

Gonadal Dysgenesis

Question 33

Which process? Testes in inguinal or labial-scrotal folds, undervirilization male, spontaneous virilization at puberty

Answer 33

5-alpha-reductase deficiency