A 19-year-old girl presents with primary amenorrhea, clitoromegaly, and short stature. Vital signs show BP 92/58 mmHg, HR 108 bpm, RR 22/min, and temperature 37.2°C. Laboratory studies reveal 17-hydroxyprogesterone 8 ng/mL (normal <2 ng/mL), sodium 130 mEq/L, elevated plasma renin activity, and normal cortisol levels. She denies recent medication use. Which of the following is the most likely diagnosis?
- A)11β-hydroxylase deficiency
- B)21-hydroxylase deficiency (classic salt-wasting form)GABARITO
- C)Androgen insensitivity syndrome
- D)3β-hydroxysteroid dehydrogenase deficiency
- E)17α-hydroxylase deficiency
Explicação
21-hydroxylase deficiency (90% of CAH) causes virilization (clitoromegaly), primary amenorrhea, and elevated 17-hydroxyprogesterone (substrate backup). Salt-wasting form involves aldosterone deficiency, causing hyponatremia, hyperkalemia, and elevated renin. T... Ver explicação completa e trilha adaptativa →