A 16-year-old 46, XY phenotypic female presents with primary amenorrhea, absent breast development, and sparse pubic hair. Vital signs show BP 148/92 mmHg, HR 88/min, RR 16/min. Laboratory studies reveal serum potassium 2.8 mEq/L, cortisol 3 μg/dL (low), ACTH 156 pg/mL (elevated), and testosterone <10 ng/dL. Morning 17-hydroxyprogesterone is elevated at 8 ng/mL. She denies salt-wasting episodes. Which of the following is the most likely diagnosis?
- A)11 beta hydroxylase deficiency
- B)Complete androgen insensitivity syndrome
- C)17 alpha hydroxylase deficiencyGABARITO
- D)5 alpha reductase deficiency
- E)21 hydroxylase deficiency
Explicação
17 alpha hydroxylase deficiency causes decreased cortisol and sex steroid synthesis with excess mineralocorticoid precursors. Patients develop hypertension and hypokalemia, and XY individuals are undervirilized with absent pubertal development because androgen... Ver explicação completa e trilha adaptativa →