jsmsJournal of Siberian Medical SciencesJournal of Siberian Medical Sciences2542-1174Federal state budgetary educational institution of higher education "Novosibirsk state medical university" of Ministry of Health of the Russian Federation (FSBEI HE NSMU MOH Russia)jsms-722Research ArticleОБЗОРЫREVIEWПараметры спермограммы и генетические аномалииSpermogram parameters and genetic abnormalitiesЕпанчинцеваЕ. А.EpanchintsevaE. A.

Епанчинцева Елена Александровна — кандидат медицинских наук, старший научный сотрудник лаборатории эндокринологии ФГБНУ «Федеральный исследовательский центр фундаментальной и трансляционной медицины»; врач эндокринолог-андролог ООО «Новосибирский центр репродуктивной медицины» группы компаний «Мать и дитя»

Новосибирск

Epanchintseva Elena A. — Cand. Sci. (Med.), Senior Researcher, Laboratory of Endocrinology, Federal Research Center of Fundamental and Translational Medicine; Endocrinologist-andrologist, Novosibirsk Center for Reproductive Medicine LLC, Mother and Child, group of companies

Novosibirsk

СелятицкаяВ. Г.SelyatitskayaV. G.

Селятицкая Вера Георгиевна — доктор биологических наук, профессор, главный научный сотрудник лаборатории эндокринологии

Новосибирск

Selyatitskaya Vera G.— Dr. Sci. (Bio.), Professor, Chief Researcher, Laboratory of Endocrinology

Novosibirsk

МаксимоваЮ. В.MaksimovaYu. V.

Максимова Юлия Владимировна — доктор медицинских наук, профессор, заведующий кафедрой медицинской генетики и биологии

630091, г. Новосибирск, Красный просп., 52

Maksimova Yulia V. — Dr. Sci. (Med.), Professor, Head, Department of Medical Genetics and Biology

52, Krasny Prospect, Novosibirsk, 630091

164706@mail.ruКнольС. А.Knol’S. A.

Кноль Сергей Александрович — врач — лабораторный генетик, лаборатория цитогенетики

Новосибирск

Knol' Sergey A. — Laboratory Geneticist, Laboratory of Cytogenetics

Novosibirsk

ФГБНУ «Федеральный исследовательский центр фундаментальной и трансляционной медицины»; ООО «Новосибирский центр репродуктивной медицины», группа компаний «Мать и дитя»РоссияFederal Research Center of Fundamental and Translational Medicine; Novosibirsk Center for Reproductive Medicine LLC, Mother and Child, group of companiesRussian FederationФГБНУ «Федеральный исследовательский центр фундаментальной и трансляционной медицины»РоссияFederal Research Center of Fundamental and Translational MedicineRussian FederationФГБОУ ВО «Новосибирский государственный медицинский университет» Минздрава РоссииРоссияNovosibirsk State Medical UniversityRussian FederationГБУЗ НСО «Городская клиническая больница № 1»РоссияCity Clinical Hospital No. 1Russian Federation20212208202102104113Copyright © Епанчинцева Е.А., Селятицкая В.Г., Максимова Ю.В., Кноль С.А., 20212021Епанчинцева Е.А., Селятицкая В.Г., Максимова Ю.В., Кноль С.А.Epanchintseva E.A., Selyatitskaya V.G., Maksimova Y.V., Knol’ S.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://jsms.elpub.ru/jour/article/view/722

Распространенность генетических аномалий у мужчин с бесплодием составляет 5.8 % (n = 9766), из них 4.2 % — аномалии половых хромосом и 1.5 % — аутосомные аномалии; в РФ этот показатель варьирует в пределах от 4.72 % (n = 539) (Новосибирск) до 10.78 % (n = 204) (Санкт-Петербург, НИИ акушерства, гинекологии и репродуктологии им. Д. О. Отта) — процент выявляемости, вероятно, зависит от концентрации пациентов в специализированных учреждениях. Учитывая высокую частоту встречаемости генетических аномалий у бесплодных мужчин, необходимо правильно подбирать методы диагностики в соответствии с конкретной клинической ситуацией. При снижении концентрации сперматозоидов менее 10 млн/мл рекомендуется проведение кариотипирования, при концентрации менее 5 млн/мл необходим поиск делеций в локусе AZF, при тяжелых нарушениях сперматогенеза — поиск мутаций в гене CFTR. Для подтверждения генетически обусловленной астенозооспермии требуется проведение электронной микроскопии сперматозоидов. Учитывая развитие вспомогательных репродуктивных технологий, в том числе активное использование интрацитоплазматической инъекции сперматозоида, и взаимосвязь патологии сперматозоидов с тяжелыми генетически обусловленными заболеваниями, необходимо информировать потенциальных родителей о рисках для здоровья будущих детей, которые несет использование такого материала.

The prevalence of genetic abnormalities in men with infertility is 5.8% (n = 9766), of which 4.2% are sex chromosome abnormalities and 1.5% are autosomal abnormalities. In the Russian Federation, this indicator varies from 4.72% (n = 539) (Novosibirsk) to 10.78% (n = 204) (St. Petersburg, the Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott) — the percentage of detectability probably depends on the concentration of patients in specialized institutions. Given the high frequency of genetic abnormalities in infertile men, it is necessary to correctly select diagnostic methods in accordance with the specific clinical situation. When the concentration of spermatozoa decreases to less than 10 million/ml, karyotyping is recommended; at a concentration of less than 5 million/ml, the search for AZF deletions is necessary; in severe disorders of spermatogenesis — the detection of mutations in the cystic fibrosis gene (CFTR). To confirm genetically determined asthenozoospermia, the electron microscopy of spermatozoa is required. Taking into account the development of assisted reproductive technologies, including the active use of intracytoplasmic sperm injection and the relationship of sperm pathology with severe genetically determined diseases, it is necessary to inform potential parents what risks to the health of future children the use of such material carries.

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The authors declare that there are no conflicts of interest present.