Diabetes Mellitus USMLE Step 1 Practice Question
A 16-year-old phenotypic female with 46,XY karyotype presents for evaluation of primary amenorrhea. She has scant pubic hair, absent breast development, and denies medications. Vital signs show BP 152/94 mmHg, HR 88 bpm, RR 16, temp 37°C, SpO2 98% RA. Laboratory studies reveal serum potassium 3.1 mEq/L and elevated 17-hydroxyprogesterone. Pelvic ultrasound shows normal uterus and ovaries. Which of the following is the most likely diagnosis?
Answer choices
- A5-alpha reductase deficiency
- B17-alpha hydroxylase deficiencyCorrect answer
- CTurner syndrome
- D21-hydroxylase deficiency
- EAndrogen insensitivity syndrome
- F11-beta hydroxylase deficiency
See the full explanation
Get the correct-answer rationale, why each distractor is wrong, the underlying mechanism, and high-yield associations — plus adaptive practice that targets your weak areas — with a free MedBoardPRO account.