Ambiguous genitalia: a case study involving a 24-week-gestation twin B

When recognized in the extremely premature infant in the delivery room, ambiguous genitalia is a devastating diagnosis. It can be even more so, if the diagnosis is made several weeks later. The case study reported here illustrates this point. A 24-week Twin B infant born with multiple congenital anomalies was originally thought to be a male. After two weeks, assessment by an astute bedside nurse revealed that the infant's genitalia were not consistent with those of other 24-week males. A complete workup followed. Twin B was indeed a female with ambiguous genitalia and a high cloacal anomaly. Faced with the uncertainty of ambiguous genitalia, many parents feel emptiness, grief, and guilt. This article differentiates among the various intersex disorders and their treatments, and discusses physical findings, embryologic development, incidence, and treatment plans for male pseudohermaphroditism, true hermaphroditism, gonadal dysgenesis, and female pseudohermaphroditism. Current management strategies are contrasted with protocols of the 1950s to show changes over time.