• PMID: 18097518
• Gene Name: SRD5A2
• Condition: Male pseudohermaphroditism
• Association: dentification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.
• Mutation: R246Q
• Population size: 2
• Population details: 2 Indian families with male pseudohermaphroditism
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male pseudohermaphroditism

Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism

Eunice M, Philibert P, Kulshreshtha B, Audran F, Paris F, Khurana ML, Pulikkanath PE, Kucheria K, Sultan C, Ammini AC.

AIM: To identify the genotype of two Indians with male pseudohermaphroditism. METHODS: Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5alpha-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. RESULTS: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. CONCLUSION: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect. CI - (c) 2008, Asian Journal of Andrology, SIMM and SJTU. All rights reserved. FAU - Eunice, Marumudi AU - Eunice M AD - Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India. FAU - Philibert, Pascal AU - Philibert P FAU - Kulshreshtha, Bindu AU - Kulshreshtha B FAU - Audran, Francoise AU - Audran F FAU - Paris, Francoise AU - Paris F FAU - Khurana, Madan L AU - Khurana ML FAU - Pulikkanath, Praveen E AU - Pulikkanath PE FAU - Kucheria, Kiran AU - Kucheria K FAU - Sultan, Charles AU - Sultan C