The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the phenotypes in XX male patients and the sex determining region(SRY) gene.</p><p><b>METHODS</b>Multiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46, XX, and then the PCR products were sequenced directly.</p><p><b>RESULTS</b>Three cases of male infertility were positive for the SRY gene without evident malformation in their extra genitalia, while 3 cases with testes were negative for the SRY gene, with evident malformation in their extra genitalia.</p><p><b>CONCLUSION</b>The SRY gene is key in sex determination and development, yet there might be other important genes involved.</p>