Studies on the mechanism of the production of the testicular feminization syndrome

Studies in a patient with testicular feminization are reported. Evidence is presented that the gonads produce testosterone as measured in the gonadal vein blood and in the urine. Urinary testosterone levels increased in response to gonadal stimulation with Pergonal and decreased following gonadectomy. Low normal urinary levels of estrogen persisted following gonadectomy despite the administration of large amounts of testosterone. In vitro studies of the gonad demonstrated their biosynthetic capacity to produce testosterone. Administration of large doses of exogenous testosterone for a period of three months produced no manifestations of virilization. It is concluded that the syndrome represents end organ unresponsiveness to testosterone. This unresponsiveness was demonstrated after gonadectomy, and it is therefore unlikely that it is due to gonadal secretion of an antiandrogenic substance [19].