A newborn girl with ambiguous genitalia presents on day 8 of life with vomiting and dehydration. Vital signs show BP 55/32 mmHg, HR 158/min, RR 32/min, temperature 36.8°C. Laboratory studies reveal sodium 118 mEq/L, potassium 6.8 mEq/L, and elevated 17-hydroxyprogesterone. She has no fever or respiratory distress. Parents report no medications. Which of the following is the most likely diagnosis?
- A)Androgen insensitivity syndrome
- B)Turner syndrome
- C)11-beta hydroxylase deficiency
- D)21-hydroxylase deficiencyGABARITO
- E)17-alpha hydroxylase deficiency
Explicação
21-hydroxylase deficiency is the most common form of CAH. It impairs cortisol and aldosterone synthesis causing salt wasting while shunting precursors toward adrenal androgens. Ver explicação completa e trilha adaptativa →