Андрология и генитальная хирургия. 2023; 24: 25-36
Генетические и сперматологические аспекты синдрома ацефалических сперматозоидов
https://doi.org/10.17650/2070-9781-2023-24-4-25-36Аннотация
Синдром ацефалических сперматозоидов является генетически обусловленной формой первичного мужского бесплодия, связанного с тератозооспермией вследствие нарушенного аппарата сопряжения головка–жгутик, и характеризуется наличием в эякуляте сперматозоидов без головки (ацефалических). Морфологические изменения сперматозоида при данном синдроме описаны у человека, однако этиология и патогенез синдрома недостаточно изучены. В последние годы благодаря прогрессу в технологии секвенирования и развитию высокотехнологичных методов исследования генома, протеома и других омиксных технологий стало возможным выявление множества генетических причин нарушений сперматогенеза и развития мужского бесплодия, а также лучшее понимание их механизмов. В статье представлен краткий обзор генов, связанных с синдромом ацефалических сперматозоидов.
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Andrology and Genital Surgery. 2023; 24: 25-36
Genetic and spermatological aspects of acephalic sperm syndrome
https://doi.org/10.17650/2070-9781-2023-24-4-25-36Abstract
Acephalic sperm syndrome is a genetically determined form of primary male infertility associated with teratozoospermia due to a disrupted head-tail coupling apparatus. Acephalic spermatozoa syndrome is characterized by high proportion of headless (acephalic) spermatozoa in the ejaculate. Sperm morphological changes in this syndrome were characterized, however, the etiology and pathogenesis of this syndrome have not been under evaluated. In recent years, with the progress in sequencing technology and other high-performance methods of genome, proteome and other omics technologies, it has become possible to identify many genetic causes of disorders of spermatogenesis and male infertility, as well as a better understanding of their mechanisms. This article provides a brief overview of the genes associated with acephalic sperm syndrome.
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