Exploration of the genetic and environmental determinants of male infertility: a comprehensive review
Muhammad Ali Imran, Ramna Zia, Muneeb Arshad, Fatima Fayyaz, Tauseef Haider, Ali Tabraiz, Iqra Arshad, Muhammad Anees Sharif, Benish Javed
Abstract
Abstract Infertility is a significant reproductive health issue in which a couple is unable to conceive a child after having unprotected intercourse for one year. Various conditions contribute to male infertility, with over half of cases being idiopathic, potentially inherited, or acquired. Poor spermatogenesis is often linked to male infertility. Spermatogenesis, the transformation of immature stem cells into mature gametes, can be disrupted by harmful substances. Azoospermia, the absence of spermatozoa in two centrifuged semen samples, is a key cause of male infertility. Nonobstructive azoospermia (NOA) occurs when issues in sperm production lead to a complete absence of sperm in the semen, often due to genetic abnormalities. Male infertility is complex and depends on gene interactions, epigenetic regulation, and environmental and lifestyle factors. Genetic factors like chromosomal abnormality cause infertility in 20% of the male population, diagnosed in 5% to 7% of oligozoospermic males and 15% of azoospermic males. This review discusses environmental and genetic factors influencing male infertility, identifies knowledge gaps, and suggests areas for further research. The results showcase the critical influence of genetic mutations, endocrine disruptors, and environmental toxins in spermatogenesis, explicitly affecting the association between external stressors and genetic predispositions. Furthermore, this study provides an overview of improving diagnostic and therapeutic options for male infertility by studying region-specific risk factors, specifically the Pakistani population. Graphical Abstract