Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.

摘要: Aims: The aim of this study was to perform a 5α-reductase type 2 gene (SRD5A2) analysis in 6 Korean patients with external genitalia ranging from predominantly female male whom deficiency suspected. Patients: Six five unrelated families participated, and all their parents were non-consanguineous. Three presented ambiguous at birth, referred owing delayed puberty. other patient incidentally during an operation for inguinal hernia. Basal post-human chorionic gonadotropin-stimulated serum testosterone dihydrotestosterone levels determined, but neither the nor ratio yielded enough information differential diagnosis. Confirmative diagnosis achieved by SRD5A2 analysis. Results: Four different pathologic mutations identified. All have already been reported, are located exon 1 (p.Q6X), 4 (p.G203S c.655delT), 5 (p.R246Q). p.R246Q most frequently identified mutation our study, c.655delT has detected only date. Conclusion: molecular is reliable method correct deficiency. Identification also enables genetic counseling risk.