The Child with Ambiguous Genitalia

Abstract

A total of 18 children with ambigous genitalia were evaluated and treated in the past 2 yr including 9 females with virilizing adreno-genital syndrome, 3 infants with mixed gonadal dysgenesis, 2 infants with dysgenetic male pseudohermaphroditism, 2 males with severe perineal hypospadias, bifid scrotum and undescended testicles, and 2 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 was competed in 6 children 2-2 1/2 yr 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 yr and were recently reconstructed. Surgical treatment in 5 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 therapeutic management of these children.