Metabolic And Growth Disorders Practice Test

An 18-year-old individual is evaluated for primary amenorrhea. Physical examination reveals a tall, phenotypically female patient with well-developed breasts but absent axillary and pubic hair. Pelvic examination shows a blind-ending vaginal pouch. Karyotype analysis reveals 46,XY. Further investigation confirms the presence of intra-abdominal testes.

A 16-year-old patient with a 46,XY karyotype presents with primary amenorrhea and a female phenotype. She has normal breast development (Tanner stage 4) but scant pubic and axillary hair. Testes are palpable in the labia majora. Serum testosterone levels are in the high-normal range for an adult male.