Approach to atypical genitalia Quiz: Ace Your Exams

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A 1-hour-old infant is evaluated in the nursery for atypical genitalia. The infant was born at 38 weeks’ gestation via vaginal delivery, and the pregnancy and delivery were uncomplicated. The mother did not experience any personal signs of virilization and took regular prenatal vitamins during the pregnancy. She did not use alcohol or recreational substances during pregnancy. There is no family history of consanguinity. Family and surgical histories are non-contributory. The patient’s temperature is 37°C (98.6°F), pulse is 140/min, respirations are 35/min, blood pressure is 69/42 mm Hg, and oxygen saturation is 97% on room air. The newborn's length is 49 cm (32nd percentile), weight is 3100 g (30th percentile), and head circumference is 33 cm (12th percentile). Physical examination of the genitalia reveals bifid scrotum and hypospadias. Cardiopulmonary and abdominal exams are unremarkable. Luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) levels are normal. Electrolyte levels are within normal levels. Karyotype results later return as 46,XY. Which of the following is the best test to confirm the diagnosis? 

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