A 7-year-old girl presents with pubic hair development and accelerated linear growth over 6 months. Vital signs show BP 132/88 mmHg, HR 92/min, RR 18/min, temp 37°C, SpO2 98%. She denies salt cravings. Laboratory studies reveal cortisol 3 µg/dL (low), plasma renin activity 0.3 ng/mL/hr (suppressed), and 17-hydroxyprogesterone 8 ng/mL (elevated). ACTH is appropriately elevated. Which enzyme deficiency best explains these findings?
- A)11 beta hydroxylaseGABARITO
- B)17 alpha hydroxylase
- C)21 hydroxylase
- D)17 beta hydroxysteroid dehydrogenase
- E)Aromatase
Explicação
11 beta hydroxylase deficiency causes decreased cortisol synthesis with excess androgen production. Accumulation of 11 deoxycorticosterone produces mineralocorticoid activity, leading to hypertension and low renin, which distinguishes it from 21 hydroxylase de... Ver explicação completa e trilha adaptativa →