hrp0089lb-p7 | Late Breaking P1 | ESPE2018

Mutational Analysis of SRD5A2 and AR Genes in Indian Children with 46 XY Disorders of Sex Development

Kumar Anil , Faruq Mohd , Werner Ralf , Sharma Rajni , Jain Vandana

Aim: To study the mutation spectrum in SRD5A2 and AR genes among Indian children with 46 XY disorders of sex development (DSD).Methods: This work is part of an ongoing study at Department of Pediatrics, AIIMS, Delhi, approved by the ethics committee of the Institute. Children with 46 XY DSD in whom endocrine investigations were suggestive of either 5α reductase deficiency or androgen insensitivity syndrome were enrolled for mutatio...