Genetic Variations As Molecular Diagnostic Factors for Idiopathic Male Infertility: Current Knowledge and Future Perspectives Publisher Pubmed



Karimian M¹ ; Parvaresh L² ; Behjati M³
Source: Expert Review of Molecular Diagnostics Published:2021

Abstract

Introduction: Infertility is a major health problem, worldwide, which affects 10–15% of couples. About half a percent of infertility cases are related to male-related factors. Male infertility is a complex disease that is the result of various insults as lifestyle issues, genetics, and epigenetic factors. Idiopathic infertility is responsible for 30% of total cases. The genetic factors responsible for male infertility include chromosomal abnormalities, deletions of chromosome Y, and mutations and genetic variations of key genes. Areas covered: In this review article, we aim to narrate performed studies on polymorphisms of essential genes involved in male infertility including folate metabolizing genes, oxidative stress-related genes, inflammation, and cellular pathways related to spermatogenesis. Moreover, possible pathophysiologic mechanisms responsible for genetic polymorphisms are discussed. Expert opinion: Analysis and assessment of these genetic variations could help in screening, diagnosis, and treatment of idiopathic male infertility. © 2021 Informa UK Limited, trading as Taylor & Francis Group.