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An Infant Is Born at 39 Weeks Gestation to a 26-Year-Old

Question 137

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An infant is born at 39 weeks gestation to a 26-year-old woman.  The delivery was uncomplicated, and Apgar scores were 8 and 9 at 1 and 5 minutes, respectively.  The mother had gestational diabetes during pregnancy, which was controlled by diet alone.  Physical examination of the infant shows clitoromegaly and partial fusion of the labioscrotal folds.  Cytogenetic analysis reveals a 46,XX karyotype.  Abdominal imaging shows bilateral adrenal hyperplasia.  This patient is most likely deficient for an enzyme normally responsible for which of the following reactions?


A) Cholesterol → Pregnenolone
B) Dehydroepiandrosterone → Androstenedione
C) Progesterone → 11-deoxycorticosterone
D) Progesterone → 17-hydroxyprogesterone
E) Testosterone → Dihydrotestosterone

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