Exploring the Clinical Implications of Novel SRD5A2 Variants in 46,XY Disorders of Sex Development

The study examined 68 patients with 46,XY disorders of sex development (DSD) and identified seven novel SRD5A2 gene variants, expanding the understanding of this gene's mutations. These variants were analyzed to assess their impact on enzyme function, revealing variability in clinical manifestations. The research emphasizes the importance of genetic testing for accurate diagnosis and gender assignment to prevent gender dysphoria, recommending male gender assignment for those with SRD5A2 deficiency. Therapeutic interventions, including hormonal and surgical approaches, were discussed, with DHT supplementation shown to improve masculinization. The study advocates for further large-scale research to improve early diagnosis and treatment strategies.