Gene analysis of DAX1 and WNT4 in patients with karyotype of 46,XX with sex abnormality

Aim: Two of the genetic factors involved in the development of the ovary or testis from the bipotential gonad are the DAX1 and WNT4 genes. It has been determined by studies that changes and mutations in these genes cause sexual development disorder (DSD). . In this study, it was aimed to evaluate the possible effects of DAX1 and WNT4 genes in patients with sexual development disorders (46,XX karyotype) by performing mutation analysis. Material and Method: In this study, chromosomal analysis was performed before peripheral blood taken from patients who came to Dicle University Medical Faculty Hospitals Medical Biology Department Genetic Diagnosis Laboratory with the preliminary diagnosis of CGB, and individuals with 46,XX karyotype were determined. By applying the -time PCR (RT-PCR) technique, the 1133A>G (p.Tyr378Cys) mutation in the exon 1 region of DAX1 and the 341C>T (p.Ala114Val) mutation in the exon 2 region of WNT4 were examined. Results: 46,XX karyotype was detected in 16 of 61 patients investigated. In the RT-PCR results of these cases with 46,XX karyotype, it was determined that there was no mutation in the DAX1 and WNT4 gene regions examined. Conclusion: In our study, it was found that no mutation was detected as a result of DAX1 and WNT4 gene analyzes performed on patients with 46,XX karyotype who presented with a pre-diagnosis of sexual development disorder. In studies reported in the literature, it has been determined that these genes show more dosage-related effects. For this reason, more comprehensive studies should be conducted to know the conditions that cause this anomaly in individuals with DSD in our study group.