Abstract
Spermatogenesis is a complex biological process of male germ cells differentiation and maturation involving more than 2300 genes in the human. Until recently, only a small part of them was investigated in severe pathozoospermia and male infertility. During the last years clinical utilisation of genomic data obtained by technologies, such as whole exome sequencing and array comparative genomic hybridization, has significantly expanded the opportunities of genomic and cytogenomic analysis, the detecting of multiple pathogenic mutations/variants and copy number variations related to different genetic syndromes and inherited disorders, including male and female infertility. This review provides an update on the genetics of male infertility, presenting a number of genes which related to non-syndromal male infertility as-sotiated with azoospermia and severe oligozoospermia.
Highlights
Spermatogenesis is a complex biological process of male germ cells differentiation and maturation involving more than 2300 genes in the human
Only a small part of them was investigated in severe pathozoospermia and male infertility
During the last years clinical utilisation of genomic data obtained by technologies, such as whole exome sequencing and array comparative genomic hybridization, has significantly expanded the opportunities of genomic and cytogenomic analysis, the detecting of multiple pathogenic mutations/variants and copy number variations related to different genetic syndromes and inherited disorders, including male and female infertility
Summary
Черных1, 2 1ФГБНУ «Медико-генетический научный центр»; Россия, 115522 Москва, ул. В данной статье описан ряд генов, которые связаны с развитием несиндромальных форм мужского бесплодия с азооспермией и олигозооспермией тяжелой степени. Гены несиндромальных форм азооспермии и олигозооспермии тяжелой степени. During the last years clinical utilisation of genomic data obtained by technologies, such as whole exome sequencing and array comparative genomic hybridization, has significantly expanded the opportunities of genomic and cytogenomic analysis, the detecting of multiple pathogenic mutations/variants and copy number variations related to different genetic syndromes and inherited disorders, including male and female infertility. This review provides an update on the genetics of male infertility, presenting a number of genes which related to non-syndromal male infertility assotiated with azoospermia and severe oligozoospermia. For citation: Solovova O.A., Chernykh V.B. Genetic causes of nonsyndromic forms of azoospermia and severe oligozoospermia in infertility men.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
