Analysis of SRY: the testis determining factor in individuals with 46 XY gonadal dysgenesis

In eutherian mammals, a primordial gonad can develop into either an ovary o r a pair of testes. This 'decision' is controlled by a Y-specific gene call ed the sex determining region of Y (SRY), the main regulatory gene in testi s determination. Additional evidence suggests that the expression of SRY ma y be influenced by other genes. With a view to looking at the status of SRY in individuals with gonadal dysgenesis, we screened 40 females with primar y amenorrhoea and developmental abnormalities, of which four showed an XY k aryotype. We now describe those four cases of XY females wit gonadal dysgen esis. Cytogenetic analyses revealed the 46, XY karyotype without any mosaic ism DNA analyses of all four subjects and both parents of two XY females sh owed the presence of SRY in all individuals with neither mutation nor delet ion, thus emphasizing the involvement of other genes in the testis determin ation pathway. Med Sci Res 27:95-97 (C) 1999 Lippincott Williams & Wilkins.