A 25-Year-Old Woman with Has a Normal Vaginal Delivery

A 25-year-old woman with has a normal vaginal delivery. On physical examination, the infant's external genitalia are atypical and ambiguous. There is an intermediate clitorophallic length and a perineal urethral opening. Well-circumscribed, mobile masses are palpable bilaterally in the inguinal area. Vital signs are normal. Serum testosterone level is within normal limits. A karyotype is performed and shows 46,XY. This infant most likely has a deficiency in which of the following enzymes?

A) 5a-reductase
B) 17-hydroxylase
C) 21-hydroxylase
D) Aromatase
E) DHEA sulfatase

Correct Answer:

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