A 5-day-old female infant with ambiguous external genitalia presents with lethargy and poor feeding. Vital signs reveal BP 68/42 mmHg, HR 158/min, RR 32/min, temperature 36.8°C. Laboratory studies demonstrate hyponatremia (128 mEq/L), hyperkalemia (6.2 mEq/L), low cortisol (2 mcg/dL), low aldosterone, and elevated 17-hydroxyprogesterone (450 ng/dL). Glucose is normal. No history of maternal virilization. Which enzyme deficiency most likely explains these findings?
- A)11 beta hydroxylase
- B)Cholesterol desmolase
- C)Aromatase
- D)21 hydroxylaseGABARITO
- E)17 alpha hydroxylase
Explicação
21 hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It decreases cortisol and aldosterone synthesis, causing salt wasting with hyponatremia and hyperkalemia, while precursors are shunted toward androgen production, causing vir... Ver explicação completa e trilha adaptativa →