The genetic basis of male and female infertility.

Abstract

This review provides a comprehensive overview of the genetic factors underlying male and female infertility. Infertility affects an estimated one in six couples worldwide, with both male and female factors contributing equally to its prevalence. Approximately, 50% of infertility cases are attributed to genetic causes. We explore three main categories of genetic causes: chromosomal abnormalities, monogenic disorders, and syndromic conditions. Chromosomal causes, including numerical and structural aberrations, are discussed with a focus on their impact on gametogenesis and reproductive outcomes. We review key monogenic causes of infertility, highlighting recent discoveries in genes critical for gonadal development, gametogenesis, and hormonal regulation. Syndromic conditions affecting fertility are examined, highlighting their impact on reproductive function. Throughout the review, we address the challenges in identifying genetic mechanisms of infertility, particularly focusing on the intricate processes involved in oogenesis and spermatogenesis. We also discuss how advancements in genetic testing, such as next-generation sequencing (NGS) and genome-wide association studies (GWAS), have significantly enhanced our understanding of idiopathic infertility and promise further insights in the future. We also discuss the clinical implications of genetic diagnoses, including the role of preimplantation genetic testing (PGT) and genetic counseling in reproductive medicine. This review synthesizes current knowledge on the genetic basis of infertility, providing a comprehensive overview of chromosomal, monogenic, and syndromic causes. It aims to offer readers a solid foundation for understanding the complex genetic factors underlying reproductive disorders.