Etiologic evaluation of male pseudohermaphroditism in infancy and childhood

We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism (MPH) that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and determination of 5 alpha-reductase activity and androgen receptor binding in genital skin fibroblasts. A thorough evaluation is warranted in all patients since the correct diagnosis may assist in determining gender assignment and providing appropriate genetic counseling. We studied 25 patients by the prescribed diagnostic scheme: seven of them had a partial gonadal dysgenesis, two were deficient in 5 alpha-reductase activity, two showed partial androgen insensitivity, four had multiple congenital malformations, one had a Wilms' tumor, and nine were considered as having an idiopathic form of MPH.