Personalized biomarkers in male infertility

Clin Chim Acta. 2025 Sep 22:120623. doi: 10.1016/j.cca.2025.120623. Online ahead of print.

Abstract

Male-related factors account for 30% of infertility cases and contribute an additional 20% when combined with female infertility factors. Consequently, it is crucial to diagnose, predict, and develop innovative strategies to tackle male infertility. The evaluation of male infertility extends beyond medical history and physical examination, with a primary focus on semen analysis (SA) and endocrine assessment. SA assesses various macroscopic semen parameters such as volume, pH, color, and viscosity. Because of the significant variability in these parameters, a range of complementary biomarkers has been introduced over time. The limited effectiveness of traditional biomarkers in identifying the underlying causes of male infertility has driven the search for more accessible, cost-effective, and predictive markers of reproductive outcomes. The emerging field of omics, which includes genomic, proteomic, and metabolomic biomarkers, offers a promising pathway for targeted diagnostics in male infertility. This review aims to highlight the significance of biomarkers in male infertility. Given the limitations of conventional diagnostic techniques, biomarkers provide valuable insights into the underlying causes of male infertility and potential pathways for personalized treatment. The review discusses the definition, prevalence, and etiology of male infertility, followed by an examination of various types of biomarkers, including proteomic, genomic, epigenetic, and metabolomic markers.

Keywords: Biomarker; Genetics; Infertility; Personalized medicine; Sperm.

Publication types

  • Review