A 2-Day-Old Infant Is Evaluated in the Newborn Nursery

A 2-day-old infant is evaluated in the newborn nursery.  The patient was born at term via spontaneous vaginal delivery to a 30-year-old woman.  The pregnancy and delivery were uncomplicated.  The mother had regular prenatal care, and her only medication was a daily prenatal vitamin.  Family history is unremarkable.  The patient's length at birth was at the 10th percentile.  Weight and head circumference were at the 25th percentile.  On initial examination after delivery, the patient was found to have ambiguous genitalia.  The infant has been breastfeeding and has had appropriate urine and stool output.  Examination shows an alert newborn with normal tone.  The abdomen is soft with no palpable masses.  Genitourinary examination reveals severe curvature of an underdeveloped phallus.  The urethral meatus is at the base of the structure, flanked by labioscrotal folds; the gonads are not palpable.  Examination of the mother shows no acne or hirsutism.  Laboratory results are as follows: Which of the following is the most likely diagnosis in this patient?

A) 5-Alpha reductase deficiency
B) Androgen insensitivity syndrome
C) Congenital adrenal hyperplasia
D) Placental aromatase deficiency
E) Sertoli-Leydig cell tumor

Correct Answer:

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