Reproductive Pathophysiology Practice Test

A 17-year-old female is evaluated for primary amenorrhea. She has well-developed breasts, but scant axillary and pubic hair. Physical examination reveals a blind-ending vagina. A pelvic ultrasound shows no uterus or ovaries; testes are identified in the inguinal canal. Karyotype analysis reveals 46,XY. Serum testosterone levels are in the normal male range.

A 14-year-old individual, raised as a girl, is brought to the physician due to virilization at the onset of puberty. The patient has developed a deepening voice, clitoromegaly, and male-pattern muscle mass. Physical examination reveals a blind vaginal pouch and no palpable uterus. Karyotype is 46,XY. Further workup reveals normal testosterone levels but low dihydrotestosterone levels.