Clinical and DNA studies on 46,XY females with gonadal dysgenesis - A report of six cases

BACKGROUND: Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46,XX males and 46,XY females. CASES: We studied the clinical and molecular data on six 46,XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46,XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject. CONCLUSION: Our data provide additional evidence for genetic heterogeneity in the etiology of 46,XY gonadal dysgenesis.