TESTICULAR DYSGENESIS AND MENTAL-RETARDATION IN 2 SIBLINGS WITH MALE PSEUDOHERMAPHRODITISM


VARDAR M., ZEREN H. , DEMIR C., EVRUKE C., OZPOYRAZ N., KADAYIFCI O., ...More

ADOLESCENT AND PEDIATRIC GYNECOLOGY, vol.8, no.3, pp.132-134, 1995 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 3
  • Publication Date: 1995
  • Doi Number: 10.1016/s0932-8610(19)80005-1
  • Title of Journal : ADOLESCENT AND PEDIATRIC GYNECOLOGY
  • Page Numbers: pp.132-134
  • Keywords: MALE PSEUDOHERMAPHRODITISM, TESTICULAR DYSGENESIS

Abstract

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.