akusherstvoObstetrics, Gynecology and ReproductionАкушерство, Гинекология и Репродукция2313-73472500-3194IRBIS LLC10.17749/2313-7347/ob.gyn.rep.2026.766akusherstvo-2857Research ArticleREVIEW ARTICLEНАУЧНЫЙ ОБЗОРThe role of genetic and epigenetic factors in developing polycystic ovary syndromeРоль генетических и эпигенетических факторов в развитии синдрома поликистозных яичниковhttps://orcid.org/0009-0008-9385-0149КовальЮ. Е.KovalYu. E.

Коваль Юлия Евгеньевна 

119048 Москва, ул. Трубецкая, д. 8, стр. 2

Yulia E. Koval

8 bldg. 2, Trubetskaya Str., Moscow 119048

https://orcid.org/0009-0004-7414-2471КапыринаТ. Д.KapyrinaT. D.

Капырина Татьяна Дмитриевна 

119048 Москва, ул. Трубецкая, д. 8, стр. 2

Tatyana D. Kapyrina, MD

8 bldg. 2, Trubetskaya Str., Moscow 119048

kapyrina_t_d@staff.sechenov.ruhttps://orcid.org/0000-0002-9945-3848ИгнаткоИ. В.IgnatkoI. V.

Игнатко Ирина Владимировна, д.м.н., проф., член-корр. РАН 

Scopus Author ID: 15118951800.

WoS ResearcherID: ABA-6794-2021.

119048 Москва, ул. Трубецкая, д. 8, стр. 2

Irina V. Ignatko, MD, Dr Sci Med, Prof., Corresponding Member of RAS.

Scopus Author ID: 15118951800.

WoS ResearcherID: ABA-6794-2021.

8 bldg. 2, Trubetskaya Str., Moscow 119048

https://orcid.org/0000-0001-7114-4050БахтияровК. Р.BakhtiyarovK. R.

Бахтияров Камиль Рафаэльевич, д.м.н., проф.

Scopus Author ID: 57208396965.

119048 Москва, ул. Трубецкая, д. 8, стр. 2

Kamil R. Bakhtiyarov, MD, Dr Sci Med, Prof.

Scopus Author ID: 57208396965.

8 bldg. 2, Trubetskaya Str., Moscow 119048

https://orcid.org/0000-0002-7215-5066ГильмутдиноваИ. И.GilmutdinovaI. I.

Гильмутдинова Ильсина Ильсуровна 

119048 Москва, ул. Трубецкая, д. 8, стр. 2

Ilsina I. Gilmutdinova, MD

8 bldg. 2, Trubetskaya Str., Moscow 119048

https://orcid.org/0000-0001-6433-2483ВиривскаяЕ. В.VirivskayaE. V.

Виривская Елена Владимировна, к.м.н. 

302026 Орел, Комсомольская ул., д. 95

Elena V. Virivskaya, MD, PhD

95 Komsomolskaya Str., Orеl 302026

ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)РоссияSechenov UniversityRussian FederationФГБОУ ВО «Орловский государственный университет имени И.С. Тургенева»РоссияTurgenev Orеl State UniversityRussian Federation20202306202600Online First2857Copyright © Koval Y.E., Kapyrina T.D., Ignatko I.V., Bakhtiyarov K.R., Gilmutdinova I.I., Virivskaya E.V., 20202020Коваль Ю.Е., Капырина Т.Д., Игнатко И.В., Бахтияров К.Р., Гильмутдинова И.И., Виривская Е.В.Koval Y.E., Kapyrina T.D., Ignatko I.V., Bakhtiyarov K.R., Gilmutdinova I.I., Virivskaya E.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.gynecology.su/jour/article/view/2857

Polycystic ovary syndrome (PCOS) is one of the most common endocrine and metabolic disorders in women of reproductive age, affecting health throughout the lifespan. The etiology of this condition includes genetic factors such as polymorphisms of the CYP11A1, CYP17A1, and DENND1A genes-related epigenetic mechanisms (including promoter methylation of genes associated with steroid hormone synthesis and insulin signaling, as well as the role of microRNAs in regulating folliculogenesis and hyperandrogenism), and environmental cues (diet, stress, and exogenous toxins). Together, these mechanisms lead to dysregulated steroidogenesis, hyperandrogenism, anovulation, and insulin resistance, resulting in heterogeneous clinical phenotypes. The aim of this review is to comprehensively analyze current evidence on the role played by genetic and epigenetic factors in PCOS development and to explore potential application of such findings for improving early diagnosis and developing novel therapeutic approaches.

Синдром поликистозных яичников (СПКЯ) является одним из наиболее распространенных эндокринных и метаболических расстройств у женщин репродуктивного возраста, оказывающее влияние на здоровье в течение всей жизни. Среди причин развития данной патологии выделяют генетические факторы – полиморфизмы генов CYP11A1, CYP17A1, DENND1A, эпигенетические (метилирование промоторов генов, ассоциированных с синтезом стероидных гормонов и инсулиновой сигнализацией, роль микроРНК в регуляции фолликулогенеза и гиперандрогении), а также факторы окружающей среды (диета, стресс, экзогенные токсины). Совместно эти механизмы приводят к дисфункции стероидогенеза, гиперандрогении, ановуляции, инсулинорезистентности, формируя гетерогенные клинические фенотипы. Проведен комплексный анализ современных данных о роли генетических и эпигенетических факторов в развитии СПКЯ для рассмотрения перспектив применения полученных данных для совершенствования ранней диагностики и разработки новых схем лечения.

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