SOX30 might not be associated with Sertoli cell-only syndrome in azoospermic Japanese men

Purpose: Members of the Sry-related HIGH Motility Group (HMG box (SOX) gene family encode transcription factors that are highly conserved and are critical for a range of developmental processes. In mice, loss of function of the Sox30 gene results in male infertility with failure of spermatogenesis. Here, we investigated the relevance of this gene to human male infertility manifested as Sertoli cell-only syndrome (SCOS) with azoospermia. Methods: A total of 138 Japanese men with SCOS were included, along with 95 fertile Japanese men as healthy controls. All patients underwent testicular microdissection and sperm extraction; however, no spermatozoa were found. Mutation analysis of the SOX30 coding region was performed. Results: Six single nucleotide polymorphisms (SNPs) were identified in the coding region in the patient group. However, the frequency and distribution of SNPs in this allele were not significantly different between patient and control groups. Conclusions: This study suggests a lack of association of SOX30 with azoospermia in infertile Japanese men with SCOS. Here, we describe an analysis of SOX30 single nucleotide polymorphisms (SNPs) in 138 infertile Japanese men showing SCOS.