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Objectives:  To investigate the prevalence of genetic mutations in steroid 5α-reductase-2 ( SRD5A2 ), androgen receptor ( AR ) and steroidogenic factor-1 ( SF-1 ) in Chinese children with hypospadias, and to also explore the possible underlying molecular mechanisms of this disease.

Mutation analysis of the SRD5A2 , AR and SF-1 genes in 52 Chinese boys with hypospadias