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?

  1. A)5-alpha reductase deficiency
  2. B)17-alpha hydroxylase deficiencyGABARITO
  3. C)Turner syndrome
  4. D)21-hydroxylase deficiency
  5. E)Androgen insensitivity syndrome

Explicação

17-alpha hydroxylase deficiency impairs cortisol and sex steroid synthesis, causing undervirilization in 46,XY and sexual infantilism with hypertension and hypokalemia. Ver explicação completa e trilha adaptativa →

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