The role of the AZF region of the Y-chromosome in male infertility

Abstract

The review systematizes data on the mechanisms of male infertility, taking into account modern advances in andrology and genetics. Reproductive dysfunction, encompassing both male and female factors of infertility, represents a significant medical problem on a global scale, with a prevalence of 12-15% among couples of reproductive ages. In nearly 50% of cases, the cause of infertility is linked to the male factor. Recent decades have been characterized by a trend of progressive deterioration in ejaculate quality: according to meta-analyses, the average annual decrease in sperm concentration is 1,4%, and in their motility is 0,4%, which translates into a reduction in the quantity and quality of male germ cells. The limited diagnostic and prognostic value of semen analysis dictate the need to develop more effective diagnostic tools and to search for reliable biomarkers of male infertility. Special attention in the review is paid to the genetic aspects of reproductive dysfunction, particularly to the analysis of the role of the AZF region of the Y-chromosome, deletions of which are detected in 10-15% of men with severe impairments of spermatogenesis. The role of the AZF region in the genesis of male fertility is key factor, as this region contains genes critical for the normal process of spermatogenesis. The paper describes the molecular mechanisms of the influence of different types of deletions (AZFa, AZFb, AZFc) on male infertility. Comprehensive analysis of the AZF region is a strategically important direction in modern andrology, capable of significantly optimizing approaches to the diagnosis and therapy of male infertility. The presented data convincingly demonstrate the importance of developing personalized algorithms for diagnosis and treatment, based on the integration of clinical, genetic, and molecular biological markers, which opens up new prospects for addressing the problem of male infertility.