46，XY severe testicular dysgenesis induced by steroidogenic factor -1 gene deficiency

Abstract:

Objective：To research the mutation of steroidogenic factor-1（SF-1） gene from 46，XY hypospadias including cryptorchidism and to analyze the relationship between genotypes and phenotypes to reveal the action of SF-1 gene in human gonadal differentiation and development. Methods：Sixty 46，XY hypospadias including cryptorchidism subjects without adrenal insufficiency were enrolled as case group and 40 healthy male children with normal genital development were enrolled as normal control group. The SF-1 genes of all subjects were sequenced，then for DNA sequence alignment using standard nuclear BLAST. Results：Heterozygous deletion（c.11835delC） of SF-1 gene was detected in one case. The patient was manifested with female genitalia at birth，perineal hypospa－dias with bilateral cryptorchidism and sever underandrogenization. One single nucleotide polymorphism（SNP） rs1110061（G/C） of SF-1 gene was found. No significant statistical difference in the allele G/C frequency was found between case group and normal control group. Conclusions：SF-1 gene mutation may be one possible cause of 46，XY hypospadias including cryptorchidism，its phenotype is sever testicular dysgensis including sever underandrogenization.