Akademik Veri Yönetim Sistemi
Turkiye Klinikleri Journal of Medical Sciences, cilt.40, sa.1, ss.68-73, 2020 (SCI-Expanded, Scopus, TRDizin)
© 2020 by Türkiye Klinikleri.Objective: 5 alpha reductase Type 2 enzyme deficiency is an autosomal recessive inherited disease that causes sexual development disorder in individuals with male genotype (46,XY). Genital skin fibroblast culture enzyme analysis is the most important diagnostic method in patients with 5 alpha reductase Type 2 enzyme deficiency. However, definitive diagnosis is made by SRD5A2 (Steroid 5 alpha reductase alpha polypeptide 2) gene mutation analysis. Although clinical findings suggest 5 alpha reductase Type 2 enzyme deficiencies, mutation cannot be detected by sequence analysis in some patients. The aim of this study was to investigate the methylation changes in patients with a pre-diagnosis of 5 alpha reductase Type 2 enzyme deficiency and who were not found mutations by sequence analysis in SRD5A2 gene and to determine whether there was a relationship between methylation changes and current disease. Material and Methods: Patients with a pre-diagnosis of 5AR2E, 46,XY genotype, external genital anomaly, normal testosterone response to beta human chorionic gonadotropin stimulation, testosterone/dihydrotestos-terone ratio higher than 8 and no mutation in SRD5A2 gene and 12 healthy and volunteer individuals who applied to our outpatient clinic for various reasons as the control group were included in the study. Results: Methylation rates of 6 CpG islands in SRD5A2 gene were higher in the patient group than the control group. So this showed that the DNA methylation can plays a role in the regulation of the SRD5A gene. Conclusion: It is considered that the evaluation of methylation changes in these patients who cannot be analyzed in genital skin fibroblast culture due to various reasons and without mutations in DNA sequence analysis will be useful in elucidating the genetic etiology of the disease.