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 patients (parents in case of children). All patients had detailed history, physical examination, chromosomal analysis and hormonal studies done. Electrochemiluminiscence method was used for the estimation of LH, FSH and T. DHT was done after Celite chromatography by (RIA)(kit based method (Immunotech,Prague)). DNA was isolated from the blood samples,quantified and subjected to PCR amplification using specific primers for all five exons of the SRD5A2 gene.

Results: There were 32 patients (from 28 families) with 5α RD.The age of the patients ranged from 2 to 28 years (13.01±7.4) and the mean age at which medical attention was sort was 5.6 years. Molecular genetic studies were performed in 13 cases from 11 families. Five patient had homozygous mutation of R246Q and nine patients had mutation of V89L on exon 5,one patient had mutation of A52T on exon 1. Besides an intronic insertion of C at g.31805880-5881 was present in all samples.

Conclusion: Mutation of V89L and R246Q (two cases reported earlier) on exon 5 and a new mutation of A52T has been found in our patients and needs further work for significance.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.