Diabetes Mellitus USMLE Step 1 Practice Question
A 16-year-old adolescent raised as a girl presents with primary amenorrhea. She is tall (height 5'10"), has normal breast development (Tanner stage V), but scant pubic hair (Tanner stage II). Vital signs are normal. Pelvic ultrasound reveals absent uterus and fallopian tubes. Karyotype is 46,XY. Serum testosterone is elevated at 450 ng/dL (normal female <70). She denies clitoromegaly. Which of the following is the most likely diagnosis?
Answer choices
- AAndrogen insensitivity syndromeCorrect answer
- BTurner syndrome
- CKallmann syndrome
- DMüllerian agenesis
- ECongenital adrenal hyperplasia due to 21 hydroxylase deficiency
- FSwyer syndrome (46,XY pure gonadal dysgenesis)
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