GONADAL AGENESIS IN XX-SISTER AND XY-SISTER - EVIDENCE FOR THE INVOLVEMENT OF AN AUTOSOMAL GENE

Two agonadic sisters, one with a 46,XY and the other with a 46,XX kary otype, both with normal female external genitalia and hypoplastic Mull erian derivatives, born to a consanguineous marriage, were studied fro m a clinical, endocrinological, histological, and genetic perspective. Using PCR amplification, Southern hybridization, and DGGE analysis, i t was found that the XY patient had no mutations in the conserved sequ ence of the SRY gene, the putative testis-determining gene in mammals, whereas her XX affected sister is SRY-negative. To our knowledge, thi s is the first report of XY and XX sibs in familial gonadal agenesis w ithout other somatic abnormalities. The involvement of an autosomal lo cus impeding gonadal development in both sexes is discussed. (C) 1994 Wiley-Liss, Inc.