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The causative mechanisms of male infertility are still poorly understood. Mutations in the Methylenetetrahydrofolate reductase (MTHFR) gene have been shown to be involved in male infertility; however, other mechanisms of pathogenesis, like promoter hyper-methylation, could also play a role. Therefore, in this study we compared the methylation status of the promoter region of MTHFR in male patients with non-obstructive azoospermia (NOA) and obstructive azoospermia without anomalies of spermatogenesis.

MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility