problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13763problendo-13763Research ArticleКлиническая эндокринологияClinical endocrinologyВрожденная дисфункция коры надпочечниковCongenital adrenal hyperplasiahttps://orcid.org/0000-0002-9124-294XВоронцоваМ. В.VorontsovaM. V.

Воронцова Мария Владимировна, к.м.н. 

Москва

Maria V. Vorontsova, MD, PhD

Moscow

Vorontsova.maria@endocrincentr.ruhttps://orcid.org/0000-0003-2408-1362КокоринаТ. С.KokorinaT. S.

Кокорина Татьяна Сергеевна

117292, Москва, ул. Дм. Ульянова, д. 11

Tatiana S. Kokorina, MD

11 Dm. Ulyanova street, 117292, Moscow

kokorinats@yandex.ruhttps://orcid.org/0000-0001-6876-3336НуралиеваН. Ф.NuralievaN. F.

Нуралиева Нурана Фейзуллаевна, к.м.н.

Москва

Nurana F. Nuralieva, MD, PhD

Moscow

Nuralieva.Nurana@endocrincentr.ruhttps://orcid.org/0000-0002-8771-8300ЮкинаМ. Ю.YukinaM. Yu.

Юкина Марина Юрьевна, к.м.н.

Москва

Marina Yu. Yukina, MD, PhD

Moscow

Yukina.Marina@endocrincentr.ruhttps://orcid.org/0000-0002-8520-8702ТрошинаЕ. А.TroshinaE. A.

Трошина Екатерина Анатольевна, д.м.н., профессор, член-корр. РАН

Москва

Ekaterina A. Troshina, MD, PhD, Professor]

Moscow

Troshina.Ekaterina@endocrincentr.ruhttps://orcid.org/0000-0002-5634-7877МельниченкоГ. А.MelnichenkoG. A.

Мельниченко Галина Афанасьевна, д.м.н., профессор, академик РАН

Москва

Galina A. Melnichenko, MD, PhD, Professor

Moscow

Melnichenko.Galina@endocrincentr.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваН. Г.MokryshevaN. G.

Мокрышева Наталья Георгиевна, д.м.н., профессор, академик РАН

Москва

Natalya G. Mokrysheva, MD, PhD, Professor

Moscow

Mokrisheva.Natalia@endocrincentr.ruНациональный медицинский исследовательский центр эндокринологии им. академика И.И. Дедова; Московский государственный университет им. М.В. ЛомоносоваРоссияEndocrinology Research Centre; Lomonosov Moscow State UniversityRussian FederationНациональный медицинский исследовательский центр эндокринологии им. академика И.И. ДедоваРоссияEndocrinology Research CentreRussian Federation2026200520267222339Copyright © Воронцова М.В., Кокорина Т.С., Нуралиева Н.Ф., Юкина М.Ю., Трошина Е.А., Мельниченко Г.А., Мокрышева Н.Г., 20262026Воронцова М.В., Кокорина Т.С., Нуралиева Н.Ф., Юкина М.Ю., Трошина Е.А., Мельниченко Г.А., Мокрышева Н.Г.Vorontsova M.V., Kokorina T.S., Nuralieva N.F., Yukina M.Y., Troshina E.A., Melnichenko G.A., Mokrysheva N.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13763

Врожденная дисфункция коры надпочечников (ВДКН) — это группа заболеваний с аутосомно-рецессивным типом наследования, в основе которых лежит дефект ферментов стероидогенеза коры надпочечников. В зависимости от варианта ферментного блока спектр клинических проявлений ВДКН варьирует от малосимптомных до потенциально фатальных нарушений. В обзоре представлен детальный анализ шести основных форм ВДКН (липоидная гиперплазия, дефициты HSD3B2, CYP17A1, CYP21A2, CYP11B1, POR) с углубленным описанием их молекулярных основ, патогенеза и характерных клинико-лабораторных проявлений.

Особое внимание уделено современным методам генетической диагностики ВДКН, включая анализ высокогомологичного локуса CYP21A2, пренатальную и преимплантационную диагностику. Детально описаны не только современные подходы к заместительной терапии, но и перспективные методы лечения: антагонисты рецепторов кортикотропин-рилизинг-гормона, генная терапия и клеточные технологии. Уникальность работы заключается в комплексном анализе заболевания от фундаментальных основ до прикладных аспектов ведения пациентов с учетом российских клинических реалий.

Congenital Adrenal Hyperplasia (CAH) is a group of diseases with an autosomal recessive inheritance pattern, which are caused by a defect in the enzymes involved in steroidogenesis in the adrenal cortex. Depending on the enzyme block variant, the spectrum of clinical manifestations of CAH varies from mild symptoms to potentially fatal disorders. The review provides a detailed analysis of the six main forms of CAH (lipoid hyperplasia, HSD3B2, CYP17A1, CYP21A2, CYP11B1, POR) with an in-depth description of their molecular basis, pathogenesis, and clinical and laboratory manifestations. Particular attention is paid to modern methods of genetic diagnosis of CAH, including analysis of the highly homologous CYP21A2 locus, prenatal and preimplantation diagnosis. Not only modern approaches to replacement therapy are described in detail, but also promising methods of treatment: corticotropin-releasing hormone receptor antagonists, gene- and cellbased technologies. The study's strength lies in its comprehensive analysis of the disease, spanning fundamental research to practical patient management, as applied to the realities of clinical practice in Russia.

врожденная дисфункция коры надпочечниковнадпочечниковая недостаточность21-гидроксилазазаместительная терапиянадпочечникиadrenal hyperplasiacongenitaladrenal insufficiencysteroid 21-hydroxylasehormone replacement therapyadrenal glandsРабота выполнена по инициативе авторов без привлечения финансирования.ReferencesDe Crecchio L. Sopra un caso di apparenze virili in una donna. Il Morgagni. 1865De Crecchio L. Sopra un caso di apparenze virili in una donna. Il Morgagni. 1865Delle Piane L, Rinaudo PF, Miller WL. 150 Years of Congenital Adrenal Hyperplasia: Translation and Commentary of De Crecchio’s Classic Paper from 1865. Endocrinology. 2015;156(4):1210-1217. doi: https://doi.org/10.1210/en.2014-1879Delle Piane L, Rinaudo PF, Miller WL. 150 Years of Congenital Adrenal Hyperplasia: Translation and Commentary of De Crecchio’s Classic Paper from 1865. Endocrinology. 2015;156(4):1210-1217. doi: https://doi.org/10.1210/en.2014-1879Gallais A. Le Syndrome genito-surrenal. 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The authors declare that there are no conflicts of interest present.