Biochemical studies on the incomplete form of testicular feminization syndrome

Abstract

The in vitro metabolism of tritiated-testosterone and 14C-androstenedione in public skin from two patients with the so-called incomplete form of Testicular Feminization Syndrome has been studied, and the following double-labeled metabolites were isolated: 5 α-dihydrotestosterone, 5 α-androstanedione, androsterone, testosterone and androstenedione. Biotransformation to 5 α-reduced steroid metabolites was not decreased as compared with pubic skin from a normal male and a normal female, thus indicating the presence of an active Δ 4-5 α-3-keto steroid oxidoreductase. The endocrine activity of the gonadal tissue from one of these patients was assessed by the in vitro formation of androgens from pregnenolone, dehydroepiandrosterone and their corresponding ester sulfates. In addition, the intramuscular administration of 5 α-dihydrotestosterone propionate had neither ostensible virilizing effect nor gonadotropin inhibitory activity on these patients.