Reproductive System Development Flashcards
is sex a genotype or phenotype
phenotype
affected by genetics and environment
what is clinical sex determined by
gonadal histology
(histological testes = male, ovaries = female)
NOT chromosome karyotype
what are the levels of sex determination
- chromosomal
- gonadal
- fetal somatic sex (internal, external)
- hypothalamic differentiation
chromosomal sex determination
first level of sex determination based on chromosomal karyotype
determines gonadal development (predicts sex, does NOT define it)
XX: female
XY: male
gonadal sex determination
development of ovaries (F) or testes (M)
clinically defines sex
can get aneuploidies (sex chromosome variants) or sex reversal
sex chromosome variants/aneuploidies
XXY –> testes (M)
XO –> ovaries (F)
sex reversal
chromosomal sex does NOT match gonadal sex
SRY negative XY individuals with ovaries
- caused by a missing SRY region on Y chromosome (results in failed development of testes but does NOT direct the development of ovaries)
- requires active FOXL2 gene (directs ovary development)
SRY negative XX individual with testes
- mechanism unknown
internal somatic sex determination
development of paramesonephric ducts (F) or mesonephric ducts (M)
how does internal sex determination in males occur
- testes produce AMH & testosterone
- AMH binds AMH-R on paramesonephric ducts –> stimulates regression of PM ducts
- testosterone binds AR on mesonephric ducts –> stimulates survival of M ducts
how does internal sex determination occur in females
- ovaries do not produce AMH or testosterone
- lack of AMH binding to AMH-R on paramesonephric ducts –> stimulates survival of PM ducts
- lack of testosterone binding to AR on mesonephric ducts –> stimulates regression of M ducts
AMH
anti mullerian hormone
synthesized by Sertoli cells in the testes to induce regression of the Mullerian (paramesonephric) ducts
testosterone
synthesized by Leydig cells in the testes to stabilize Wolffian (mesonephric) ducts and direct development of the epididymis, ductus deferens, and accessory sex glands
do males, females, or both express AMH and androgen receptors on parameso/mesonephric ducts
BOTH - the presence or absence of AMH and testosterone determines regression or stabilization of ducts
external somatic sex determination
development of a clitoris and vagina (F) or penis, prepuce, and scrotum (M)
how does external somatic sex determination occur in males
- testes produce testosterone
- testosterone gets converted into DHT by 5a-reductase
- DHT stimulates migration of the genital tubercle
- results in development of male external genitalia