Genetics of male infertility.

Purpose of review: The aim of this study was to outline the role of genetic abnormalities, including chromosomal anomalies, single-gene mutations, epigenetic changes, and mitochondrial DNA (mtDNA) defects, in male factor infertility.

Recent findings: Recent advances in genetic research have brought incredible new perspectives to understanding male infertility, thanks in large part to next-generation sequencing. Chromosomal abnormalities like Klinefelter syndrome and Y chromosome microdeletions remain key contributors, with new insights into their variable presentations and impact on sperm retrieval. Advanced discoveries in genes such as CFTR and ADGRG2 have reframed our approach to conditions like CBAVD, while epigenetic disruptions and mitochondrial DNA mutations are revealing previously unrecognized mechanisms behind impaired spermatogenesis and sperm motility. Rare copy number variations and genetic syndromes like Kallmann and Noonan further underscore the complex interplay between systemic disorders and male fertility.

Summary: The field of genetic infertility is rapidly evolving, offering new insights into the molecular mechanisms behind impaired spermatogenesis and fertility. These findings highlight the importance of integrating genetic testing into infertility evaluations to guide personalized management strategies.