A Newborn Is Being Evaluated in the Nursery

A newborn is being evaluated in the nursery.  The patient was born at term via spontaneous vaginal delivery to a 23-year-old woman.  The mother developed dark terminal facial hair and a deepened voice during the pregnancy.  The delivery was unremarkable, and the patient's vital signs are within normal limits.  Examination shows ambiguous genitalia and clitoromegaly.  Laboratory studies reveal elevated serum levels of testosterone and androstenedione.  Karyotype testing shows a 46,XX genotype.  Ultrasound of the pelvis shows a normal-sized uterus.  This infant's presentation is most likely due to deficiency of which of the following enzymes?

A) 5-Alpha reductase
B) 17-Alpha hydroxylase
C) 21-Hydroxylase
D) Aromatase
E) HMG-CoA reductase

Correct Answer:

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