Endocrine Abstracts

Introduction: 5 α-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder.Aim: To identify mutations in the SRD5A2 gene in patients with 5α SRD.Methods: Patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α RD were eligible to be included in this study. The study was approved by AIIMS ethics committee, written informed consent was obtained from pat...

Introduction: 5 alpha-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder. Presented here is the clinical profile and long term outcomes of subjects with 5α SRD examined in our hospital during the last 30 yrs.Methods: Records of patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α SRD were compiled. Details of history,physical examination,chromosomal analysis, hormonal s...