Sex Differences

Question 1

17 hydroxylase deficiency

Answer 1

• 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

Question 2

17-20 desmolase deficiency

Answer 2

• autosomal resessive
• loss of sex hormone production
• lack of secondary sex cahracteristisc
• men and women affected
• GnRH is high but hormone levels are low