The child with ambiguous genitalia: a neonatal surgical emergency.

Abstract

Although many birth defects pose a real threat to life if left uncorrected, the problem of ambiguous genitalia, if poorly or incorrectly handled, leads to a lifetime of unhappiness for both parent and child. The evaluation of these defects must be attended to with the same dispatch as any life threatening anomaly. A total of 18 children with ambiguous genitalia have been evaluated and treated in the past two years including nine females with virilizing adreno-genital syndrome, three infants with mixed gonadal dysgenesis, two infants with dysgenetic male pseudohermaphroditism, two males with severe perineal hypospadias, bifid scrotum, and undescended testicles, and two females with cloacal deformities. Precise diagnosis and most importantly proper gender assignments were made in 11 neonates by cytogenetic, biochemical, and miniaturized endoscopic techniques. Subsequent surgical reconstruction is governed by existing anatomy, not genetic sex, and has been completed in six children two to two and half years of age. Most are reconstructed as females with recession of the enlarged clitoris and vaginoplasty. Males with hypospadias are handled by standard techniques. Seven previously evaluated patients had been lost to follow-up for up to 13 years and were recently reconstructed. Surgical treatment in five older children with extreme virilization and moderate to severe gender confusion was technically successful but associated with pronounced emotional difficulties. Worse than delay in gender assignment, is making the wrong gender assignment, or failing to follow through with the original plan at an early age. Sample cases from each of these categories are presented in detail to illustrate the innovations in the diagnostic and therapeituc management of these children.