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?
- A)5-alpha reductase deficiency
- B)17-alpha hydroxylase deficiencyGABARITO
- C)Turner syndrome
- D)21-hydroxylase deficiency
- 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 →