Cohort study reveals genetic links to male infertility in patients with non-obstructive azoospermia, suggesting DNA repair defects may impair sperm production.
The present study identifies MSH4 and MSH5 as strong candidate genes for male infertility, supporting the integration of their testing into the clinical diagnosis of infertile men, particularly those exhibiting non-obstructive azoospermia. Although current evidence suggests that genetic variants in most MMR genes do not cause infertility, genetic defects in MMR genes can still impair spermatogenesis due to their critical role in sperm DNA repair and maintenance of genome integrity.
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Podgrajšek et al. (2025) studied this question.
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