Surgical management of ambiguous genitalia in the infant and child

Abstract

Proper gender assignment to a neonate born with ambiguous genitalia is a social emergency of the newborn period. Once an appropriate sex assignment has been made, the next critical step is performance, if needed, of a reconstructive procedure in a timely fashion. In an attempt to evaluate our experience with this unique group of patients, we have retrospectively reviewed the course of 69 children with ambiguous genitalia managed surgically at this institution between 1974 and 1989. This series consists of 32 genotypic females with congenital adrenal hyperplasia (CAH), 10 children with mixed gonadal dysgenesis (MGD), 10 male pseudohermaphrodites, 3 true hermaphrodites, 8 genotypic females with urogenital sinus anomalies (UGS), and 6 genotypic males with bilateral undescended testes and penoscrotal hypospadius. All newborns initially seen at this institution received proper sex assignment within the first week of life. Prior to 1980, 17 of the children with CAH underwent clitorectomy and vaginoplasty and three underwent clitoral recession and vaginoplasty. After 1980, 10 patients with CAH were managed with clitoral recession and vaginoplasty and 2 with vaginoplasty alone. Eight of 10 cases of MGD were given a female sex assignment and all 8 underwent gonadectomy due to the high risk of gonadoblastoma; the other 2 children were raised as males. There were 3 true hermaphrodites of which 2 were assigned female gender roles and were managed with a clitoral recession and vaginoplasty. All 10 male pseudohermaphrodites were raised as females and all underwent bilateral orchidectomy. The 8 children with UGS were raised as females and underwent vaginal reconstruction. Six genotypic males with penoscrotal hypospadius and bilateral undescended testes were raised as males and underwent hypospadius repair and bilateral orchidopexy. This retrospective review underscores the complexities of assessment and management of ambiguous genitalia in infants and children. It also reconfirms the data from other series showing that the vast majority of infants born with the four most common forms of ambiguous genitalia (CAH, MGD, male pseudoher-maphroditism, and true hermaphroditism) must be raised as females because of inadequacy of the phallus.