A 6-year-old boy presents with accelerated linear growth, pubic hair development, and genital enlargement. Vital signs show BP 128/82 mmHg, HR 92 bpm, RR 18, temp 37°C, SpO2 98%. Laboratory studies reveal elevated 17-hydroxyprogesterone (8.2 ng/mL), elevated DHEA-S (180 µg/dL), low cortisol (3.2 µg/dL), and elevated ACTH (68 pg/mL). Serum aldosterone is normal. Which enzyme deficiency most likely explains these findings?
- A)21-hydroxylase deficiencyGABARITO
- B)11β-hydroxylase deficiency
- C)3β-hydroxysteroid dehydrogenase deficiency
- D)17α-hydroxylase deficiency
- E)Lipoid CAH
Explicação
21-hydroxylase deficiency accounts for 90% of CAH cases. The enzyme block prevents both cortisol and aldosterone synthesis, causing ACTH elevation. Precursors are shunted toward androgen production (elevated DHEA-S and 17-OHP), causing virilization in females ... Ver explicação completa e trilha adaptativa →