Etiologic evaluation of male pseudohermaphroditism in infancy and childhood
G. D. Berkovitz, P. A. Lee, T. R. Brown and C. J. Migeon
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.
