ADOLESCENT AND PEDIATRIC GYNECOLOGY, cilt.8, sa.3, ss.132-134, 1995 (SCI-Expanded)
Two mentally disabled phenotypic females, 46, XY dysgonadal sisters from a consanguineous marriage are described. Low plasma testosterone levels and an inadequate response of plasma-testosterone to human chorionic gonadotrophin (hCG) stimulation were noted in both cases. Dysgenetic testes and remnants of the mullerian and wolffian ducts were identified at exploratory laparotomy. Mild mental retardation was also present in both cases, These data may suggest the specific role of genetic factors in the etiology of testicular dysgenesis.