Genetic Analysis of the SRD5A2 Gene in Indian Patients with 5α-Reductase Deficiency
作者： Ravi Sahu , Raman Boddula , Pankaj Sharma , Vijayalakshmi Bhatia , Ronda Greaves
DOI: 10.1515/JPEM.2009.22.3.247
关键词:
摘要: Background. 5a-Reductase deficiency (5RD) is uncommon autosomal recessive disorder of sexual differentiation. It results from impaired conversion testosterone to dihydrotestosterone due mutations in the steroid 5a-reductase type 2 gene (SRD5A2). Mutations SRD5A2 have not been previously reported Indian patients with 5RD. Aim: To delineate clinical features and Patients Methods: The was sequenced two unrelated elevated testosterone/dihydrotestosterone ratio one patient classical virilization at puberty (in whom could be measured prior gonadectomy). prevalence also studied 52 healthy ethnic control subjects by PCR-RFLP. Results: Two patients, both north state Uttar Pradesh, carried homozygous missense mutation p.R246Q exon 5. Parents probands were heterozygous for mutation. absent subjects. third patient, severe perineoscrotal hypospadias micropenis, detected a novel p.Q56H, as well polymbrohism, p.V89L, 1. Conclusion: common 5RD subcontinent. © Freund Publishing House Ltd.
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