Male infertility: genetic focus on actual problem

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Abstract

In recent years, a contribution of the “male factor” to problems of human reproduction has increased significantly. This is due to a decrease in parameters of seminal fluid and male fertility, as well as an increase in knowledge in the field of andrology, reproductive medicine and genetics. Impaired fertility in men can be caused by various reasons and is associated with genetic and environmental factors or a combination thereof. It manifests itself in different clinical diseases or conditions and is often due to a change in spermatological parameters. The presence or absence of syndromic male infertility, a type of pathozoospermia, largely determine a strategy for genetic examination of the patient. Diagnosis of male infertility which is associated with severe azoospermia and severe oligozoospermia includes a standard cytogenetic analysis (karyotyping), analysis of Y chromosome microdeletions at the AZF region, and CFTR gene variants. Chromosomal abnormalities, structural anomalies and variations in the copy number of autosomes and sex chromosomes, gene mutations / variants and epigenetic abnormalities, aneuploidy in spermatozoa can have a negative effect on male fertility, leading to impaired sex formation, impaired development of the reproductive system, impaired spermatogenesis and meiosis and to a decrease in fertility parameters of sperm. Heterogeneity of genetic causes of many forms of pathozoospermia and a relative rarity of syndromic disorders of the reproductive system and male infertility significantly complicate diagnosis, and therefore, patients with impaired fertility of unknown origin, genetic or presumably genetic etiology, need a comprehensive examination using genomic and metagenomic technologies. Genetic testing and counseling of patients with infertility should not be carried out at late stages of examination as “exclusion of the genetic factor”, but they should be an integral part of a comprehensive clinical examination of patients and couples with impaired reproduction.

About the authors

Vyacheslav B. Chernykh

Bochkov Research Centre for Medical Genetics; Pirogov Russian National Research Medical University

Email: chernykh@med-gen.ru
D. Sci. (Med.) Moscow, Russia

Olga A. Solovova

Bochkov Research Centre for Medical Genetics; Vladimirskiy Moscow Regional Research Clinical Institute

врач-генетик, аспирант Moscow, Russia

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