Endocrine studies in male pseudohermaphroditism in childhood and adolescence

The clinical and endocrine features of fifty cases of male pseudohermaphroditism and XY karyotype aged from 6 months to 20 years have been studied. Thirty-two subjects were pre-pubertal and eighteen, of whom ten developed gynaecomastia, were pubertal. A definite aetiology was established in 12%. 4% had deficient testosterone biosynthesis and 8% mixed gonadal dysgenesis. In the remaining 88% an aetiology of androgen unresponsiveness at the target areas is suggested. Hormonal investigations in these subjects showed that before puberty basal plasma testosterone and oestradiol were slightly but significantly elevated, whereas testosterone response to stimulation with human chorionic gonadotrophin was significantly diminished. In the pubertal subjects basal plasma testosterone, oestradiol, serum binding capacity of testosterone-oestradiol binding globulin and basal plasma LH were significantly elevated. These hormonal features in pubertal or post-pubertal male pseudohermaphrodites appear to be characteristic of androgen unresponsiveness. The presence in addition of elevated basal plasma testosterone and oestradiol in the pre-pubertal subjects suggest that some of these findings may be presented from early childhood.