Sex Differences Flashcards
1
Q
17 hydroxylase deficiency
A
- CAH (1%, 90% are 21 hydroxylase deficiency
- autosomal recessive
- no steriods, no cortisol, hypokalemic
- dx in later yerar
- 46XX: sexual infantilism, primary ammenorrhea, lack second sex characteristics, prepubital uterus, has ovaries
- 46 XY: female apperaing, no uterus, blind vagina, no ovaries, “amenorrhe”, no secondary sex characteristics, look like female or males with small genitals
2
Q
17-20 desmolase deficiency
A
- autosomal resessive
- loss of sex hormone production
- lack of secondary sex cahracteristisc
- men and women affected
- GnRH is high but hormone levels are low
