Exploration Of Genetic Etiology For The 45,X And 46,XX Male Patients With Disorder Of Sexual Development

Objective: This study through 45, X and 46, XX male DSD patients from the perspective of cytogenetic and molecular biology research, using polymerase chain reaction(PCR), fluorescence in situ hybridization(FISH) and gene sequencing technology, from the gene level in patients with 45, X and 46, XX male DSD were discussed, and the etiology of patients with a clear etiology, for further treatment, and prevention of the disease in the family provides the theory basis for genetic, at the same time in order to establish 45, X and 46, XX male DSD laying a foundation for clinical diagnosis and treatment process.Methods: Object of this study selected from February 2011 to April 2011 for infertility, genital dysplasia and attendance of 8 cases of 45, X and 46, XX male patients with DSD. The semen analysis was performed to determine patient sperm production condition. Chromosome karyotype analysis was carried out on the patients, patients with chromosome karyotype. For lack of patients SRY detection, SRY is missing in patients with judgment. The SRY positive male patients with DSD SRY FISH detection, locate patients SRY translocation. Tow male patients with DSD SRY negative hot gene RSPO1 gene and WNT4 gene sequencing, to test whether the gene mutations.Results: In this study, 8 cases of patients with clinical manifestations:6 adult patients is no refined disease, 2 juvenile patients are genital dysplasia. Karyotype analysis showed that 6 karyotype of adult patients with 3 patients are 46, XX, 3 patients are 45, X; 2 juvenile patients` karyotype are 46, XX. By PCR amplification method to detect patients with SRY deletion, was found in 8 patients, 6 adult patients exist SRY, and 2 juvenile patients do not exist SRY. The FISH was used to the SRY positive patients for analyzing their SRY translocation. The result found that SRY gene of the three 46, XX patients were translocated to the X chromosome; the SRY gene of the three 45, X patients were translocated to the autosome and for one of 45, X patients, the SRY gene translocation position was identified in 13 patients with chromosome. In the WNT4 and RSPO1 gene testing for two SRY negative DSD patients, we found no mutations.Conclusion: 1. SRY gene translocation is the leading causes of 46, XX and 45, X male DSD, even if the Y chromosome does not exist, SRY positive individuals will also develop into men. 2. This study found that the SRY for 45, X patients translocates to autosome and the SRY for 46, XX patients translocates to X chromosome, but SRY translocation position and the relationship between the clinical phenotype remains to be further research. 3. SRY negative male patients with 46, XX sex differentiation have a complex pathogeny. Besides of the hotspot RSPO1 gene and WNT4 gene, there are other genetic disorders.