A newborn infant with a disorder of sexual differentiation.

CASE Following an uncomplicated 38-weeks pregnancy, a normal labor, and delivery with Apgar scores 8 and 9 at 1 and 5 minutes, respectively, a newborn was delivered with a birth weight of 6 pounds 5 ounces. The physical examination was unremarkable except for complete absence of the penis. The scrotum appeared normal with bilateral palpable gonads of normal size. A voiding cystourethrogram demonstrated a normal bladder without uretero-vesical reflux; the contrast study revealed that urine partially emptied into the rectum and colon. The urethral meatus was positioned at the anterior anal verge. Karyotype was 46,XY. This is the third child for this couple. They have a 4-year-old boy and a 6-year-old girl. To which sex should this infant be assigned? Accompanying decisions concern disclosure of information to patient and family (what should be disclosed about the condition and its treatment and when?); surgery to have the genitalia match the sex assignment, or alternatively, female genital anatomy (what should be done and when?); psychological support of the patient and family (who should provide it, and what model of care should be followed?); and involvement of other family members and friends (should they be told, and if so, what should they be told and when?).