Case narrative 1

Julie G, a 26-year-old banker, has a normal first pregnancy and goes into labor at 41 weeks. All proceeds normally. Her husband stays with her in the delivery room and she has the baby at approximately 4 a.m. When the obstetrician delivers the baby, she indicates that the infant is a boy. Later that morning, a pediatrician from the practice Julie and her husband have chosen arrives to speak with them and examine the newborn. She notices the urethral opening is at the base of the phallic shaft and the phallus seems somewhat short. She wonders if the child might have a disorder of sex development (DSD). Specifically, she wonders if the child might have normal female chromosomes and some form of virilizing congenital adrenal hyperplasia (CAH) – a relatively common form of DSD.

Dr. P sits down with the parents. She explains what she has observed and what it might mean. She emphasizes that the baby appears otherwise entirely normal and should be healthy, unless the child has a form of CAH with disturbed regulation of the body’s important minerals. Both parents want to know whether their baby is “really” a boy or a girl. They have questions about picking a name for the child, what to tell those close to them, and what treatment the child will need.