A 6-day-old female with ambiguous genitalia presents with vomiting and dehydration. Vital signs show BP 65/40 mmHg, HR 155/min, RR 32/min, and temperature 37.2°C. Laboratory studies reveal sodium 118 mEq/L, potassium 6.8 mEq/L, cortisol 2.1 mcg/dL (low), aldosterone 8 pg/mL (low), and elevated 17-hydroxyprogesterone at 8.5 ng/mL. Glucose is normal. She has not received any medications. Which of the following is the most likely diagnosis?
- A)Androgen insensitivity syndrome
- B)5 alpha reductase deficiency
- C)21 hydroxylase deficiencyGABARITO
- D)11 beta hydroxylase deficiency
- E)17 alpha hydroxylase deficiency
Explicação
21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia. Low cortisol and aldosterone with elevated ACTH cause adrenal hyperplasia and shunting toward androgen synthesis, leading to virilization in genetic females and salt wasting i... Ver explicação completa e trilha adaptativa →