Analysis of the cases of the 46,XX male and 46,XX/45,X

Objective:To study the role of SRY gene in abnormalities of sexual differentiation and development.Mothods: The karyotype analysis technique of the cytogenetics combined with polymerase chain reaction(PCR) were used to detect the SRY gene of peripheral blood.Results:Karyotype of case 1 is 46,XX,SRY(+),was diagnosed 46,XX male sex-reversal syndrome.Karyotype of case 2 is 46,XX/45,0,SRY(-),was diagnosed Turner mosaic syndrome.Conclusion: SRY gene detection is more sensitive and specific than the Y-chromsome in the prediction of the presence of testicular tissue,It is the important tool diagnosing sex development abnormal.Besides SRY gene,there are more gene determining sex and differentiation.The sexual differential abnormalities express highly the genetic heterogeneity.