181- Sex development

Question 1

three types of gender

Answer 1

chromosomal, gonadal, phenotypic

Question 2

What does each structure become in male and female: genital tubercle, urogenital sinus, urethral folds, labioscrotal swellings

Answer 2

penis (glans and corp cavern), clitoris

prostate and prost. urethra, lower vag and urethra

shaft (corp spong) and cavernous urethra, lab minora

scrotum, lab majora

Question 3

SF1

Answer 3

regulates all three levels of the H-P-Gonadal axis (mutations result in gonadal dysgenesis +/- adrenal insufficiency

Question 4

SRY

Answer 4

testes determining factor. induces sertoli cells which then produce AMH. Presence or absence can result in sex reversal, despite chromosomal makeup

Question 5

SOX9

Answer 5

expressed in sertoli cells. regulates AMH. Haploinsufficiency leads to male to female sex reversal

Question 6

DAX1

Answer 6

dose-sensitive: duplication leads to 46XY sex reversal, deletion leads to hypogonadotropic hypogonadism and impaired spermatogenesis

Question 7

WNT4

Answer 7

balanced opposition: in females it promotes mullerian duct and suppresses leydig cells. Also has role in male development

Question 8

Antimullerian hormone: produced by? regulated by? effect of?

Answer 8

sertoli cells
SF1 and SOX9
regression of mullerian structures on side ipsilateral to testis

Question 9

5-a-reductase

Answer 9

conversion of testosterone to hihydrotestosterone (DHT) which stabilizes wolffian structures

Question 10

three examples of chromosomal DSD

Answer 10

klinefelter, turner, mixed

Question 11

complete androgen insensitivity: genotype? mutation? testes? genitalia? breasts? raised as? presentation?

Answer 11

46XY, mutation in androgen receptor (AR) gene

testes, female external genitals with absence of mullerian derivatives (due to presence of testes and AMH), spontaneous breast development.

raised female, presents with amenorrhea

Question 12

partial androgen insensitivity: how is it different from complete?

Answer 12

receptor still partially responsive. Ambiguous genitals in infancy. Abnormal wolffian structures, undervirilized genitals. Can be raised either way

Question 13

5-a-reductase deficiency: what happens? what do genitals look like? what else happens and when?

Answer 13

46XY but can’t convert T>DHT so they’re undervirilized. They have testes, absence of mullerian structures, small penis with hypospadias and blind vaginal pouch. With more T at puberty you get virilization.

Question 14

CAH: 21-dydroxylase deficiency: problem in whom? Genitalia? What else is abnormal? What do you replace?

Answer 14

46XX (46XY doesnt really matter). Internal female genitals but ambiguous external. Salt wasting. Replace cortisol and aldosterone