Clinical, cytogenetical, histological, immunological and hormonal studies in a case of true hermaphroditism

A true hermaphrodite with ambiguous genitalia and 46XX karyotype was studied from 18 months of age to 17 years. At 13 years, he developed an ambiguous puberty, with marked bilateral gynaecomastia and public hair score three. A relatively high testosterone level (21 nmol/l), not increased by hCG stimulation, was associated with a high LH level (6 UI/l). In the venous blood of the right ovotestis, the steroid concentrations were in the adult male range, especially testosterone (1400 nmol/l). After removal of the right gonad, large fluctuations of oestradiol levels were observed (150-810 pmol/l). The testosterone secretion of the left ovotestis was low, concentrations begin 4.2 and 130 nmol/l in peripheral and gonadal blood respectively at 16 years. A significant LH surge was induced by oral ethinyl-oestradiol before removal of the left gonad. The 5 alpha-reductase activity was normal in pubic skin. In the left gonad the concentrations of cytosol receptors for testosterone and 5 alpha-dihydrotestosterone (DHT) were significant: 14.5 and 65.5 fmol/mg protein respectively. However the plasma DHT level was not increased by hCG. Finally, the presence of H-Y antigen was demonstrated on lymphocytes. This accords with the presence of testicular tissue in an XX subject, and with significant testosterone production. The high testosterone production did not prevent the appearance of a positive oestrogen-LH feedback. The relative peripheral insensitivity to testosterone, is, in some ways, inconsistent with the presence of receptors for androgens.