Analysis of SRD5A2 gene mutations in hypospadias patients in the population of kirşehi̇r province

Objective: This study aims to determine the frequency of genetic mutations in the SRD5A2 gene in hypospadias patients and to investigate the effects of genetic variations observed in the Turkish population on hypospadias. Materials and Methods: Peripheral blood samples were collected from 32 hypospadias patients who applied to Kırşehir Education and Research Hospital. All exons of the SRD5A2 gene were analyzed. The amplified exons were compared with the reference sequence in the NCBI database, and the potential pathogenicity of the mutations was analyzed using Polyphen-2 software. Results: Mutations were detected in the SRD5A2 gene in 31 of the 32 patients. Among these, the p.D143N and p.R114K variants were identified as novel mutations not previously reported in the literature. The p.D143N variant was assessed as potentially pathogenic, while the p.R114K variant is also thought to play a role in the development of the disease. The third mutation, p.V89L, is a previously reported variant in the SRD5A2 gene and is commonly noted as a polymorphism in hypospadias cases. Conclusion: Mutations identified in the SRD5A2 gene, particularly the p.D143N and p.R114K variants, are thought to contribute significantly to the genetic basis of hypospadias cases in the Turkish population. This study contributes to understanding the genetic background of hypospadias cases in the Turkish population and provides a foundation for future research on the genetic aspects of the disease. Keywords: Hypospadias, SRD5A2 gene, Genetic Mutation, p.D143N, p.R114K, p.V89L