Disorders of Sexual Development

Question 1

Ovotesticular DSD: Genotype

Answer 1

Duplication of Sox9 (46 XX)
Mutation in SRY (46 XY)

Question 2

Swyer syndrome is an example of what DSD?

Answer 2

Ovotesticular DSD

Question 3

Ovotesticular DSD: Gonad

Answer 3

defect in gonadal development -> ovary, testis, or ovotestes

Question 4

Ovotesticular DSD: symptoms/signs

Answer 4

infertility

Question 5

What DSD is Turner syndrome an example of?

Answer 5

Gonadal dysgenesis

Question 6

What role do PGCs have in development of a functional ovary?

Answer 6

PGCs induce follicle formation

Question 7

Congenital adrenal hyperplasia: Genotype

Answer 7

46 XX

Question 8

Congenital adrenal hyperplasia: Gonad

Answer 8

ovary; no Y

Question 9

What is the most common cause of congenital adrenal hyperplasia?

Answer 9

21-hydroxylase deficiency

Question 10

What are the primary effects of 21-hydroxylase deficiency?

Answer 10

Mineralcorticoid deficiency (aldosterone) and cortisol deficiency, with concurrent build up of androgens

Question 11

Congenital adrenal hyperplasia: secondary sex characteristics

Answer 11

variable, but tending to male

Question 12

Congenital adrenal hyperplasia: symptoms/signs

Answer 12

low cortisol, low aldosterone (salt-wasting), high adrenal androgens, precocious puberty/failure of puberty to occur

Question 13

What are genetic, gonadal, and secondary sex characteristics of Klinefelter syndrome?

Answer 13

47 XXY, leydig cells fail to produce sufficient testosterone, presenting with small testes, azoospermia, and gynecomastia

Question 14

Androgen Insensitivity: Genotype

Answer 14

46 XY

Question 15

Androgen Insensitivity: Gonad

Answer 15

testes, with testosterone and AMH production

Question 16

Androgen Insensitivity: secondary sex characteristics

Answer 16

phenotypically female, no prostate

Question 17

Androgen Insensitivity: symptoms/signs

Answer 17

normal male hormone levels, amenorrhea, blind ending vagina, infertility

Question 18

5-alpha-reductase deficiency: genotype

Answer 18

46 XY

Question 19

5-alpha-reductase deficiency: Gonad

Answer 19

Testes, makes testosterone and AMH

Question 20

5-alpha-reductase deficiency: secondary sex characteristics

Answer 20

phenotypically female genitalia until puberty, virilization at puberty

Question 21

5-alpha-reductase deficiency: symptoms/signs

Answer 21

decreased levels of DHT, increased T/DHT ratio

Question 22

Persistant Mullerian Duct Syndrome: Genotype

Answer 22

46 XY

Question 23

Persistant Mullerian Duct Syndrome: two causes

Answer 23

Sertoli cells don’t make AMH OR AMH receptor mutants don’t allow binding

Question 24

Persistant Mullerian Duct Syndrome: internal genitalia

Answer 24

both male and female internal ducts (testes, not ovaries)

Question 25

Persistant Mullerian Duct Syndrome: symptoms/signs

Answer 25

infertility, low/no AMH, cryptochidism

Question 26

What is endometriosis?

Answer 26

a condition where the endometrium grows outside the uterus

Question 27

What are the signs and symptoms of endometriosis?

Answer 27

severe pain during periods, sexual intercourse, bowel movements, nausea and chronic fatigue

Question 28

What is a rhabdomyoma?

Answer 28

A rare benign tumor of skeletal muscle