Analysis of the cases of the 46,XX male sex-reversal and 46XY female sex-reversal syndrome

Objective: To report two cases of sex-reversal syndrome and to explore genetic mechanism of it as well as the role of SRY gene in human gonad differentiation and sexual development.Methods: To detect the SRY gene of peripheral blood in the way of the karyotype analysis technique of cyto genetic and polymerase chain reaction(PCR).Results: The karyotype of the case one which was diagnosed as 46,XX male sex-reversal syndrome is 46,XX,SRY(+),while that of the case two,diagnosed as 46,XY female sex-reversal syndrome,is 46,XY,SRY(+).Conclusion: Detection of SRY gene is more sensitive and specific than that of Y-chromosome in checking the presence of testicular tissue,which is an important measure to diagnose the patient of abnormal sex development.The abnormality of gonad is based on chromosome karyotype and SRY gene of gonad tissue.There exists more other genes involving sexual decision and differentiation in addition to SRY gene.Sexual differential abnormality presents genetic heterogeneity in high degree.