Hypospadius

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...

Over a 7-year period 43 patients who underwent sex-chromatin and cytogenetic studies in the investigation of a disorder related to reproductive function were found to have abnormalities of the sex or autosomal chromosomes that could not have been detected by routine buccal smear. Therefore, testing for sex chromatin is of no value to the clinician, because full chromosome analysis must be performed irrespective of the findings from the buccal smear. However, the sex-chromatin test is an aid to the cytogeneticist in interpreting the chromosome analysis...

Coexistent abdominal disease was found in 9 cases of congenital asymmetry. These patients appear to be at risk of malignant neoplasms of the adrenal gland, kidney, and liver. Five of the 6 neoplasms in this group of patients were malignant. Approximately 25% of the reported cases of hemihypertrophy have been associated with hamartomas or congenital defects, especially genitourinary anomalies. Benign disorders encountered in this group included medullary sponge kidney, renal ectopia, renal cyst, nephromegaly, adrenomegaly, and hypospadius...