ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet13268ometendo-13268Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSВедение пациентов с синдромом МЭН-1 в клинической практике: преодоление сложностей посредством междисциплинарного сотрудничестваMEN-1 Management in Clinical Practice: Navigating Complexity Through Multidisciplinary Collaborationhttps://orcid.org/0009-0002-3625-6289ЭбаноидзеЛ. Г.EbanoidzeL. G.

Эбаноидзе Лаура Гогиевна, аспирант

Москва

Laura G. Ebanoidze, MD, postgraduate student

Moscow

lauragogievna97@gmail.comhttps://orcid.org/0000-0002-4218-4456Эль-ТаравиЯ. А.El-TaraviIa. A.

Эль-Тарави Ясмин Ахмед Али, ординатор

117036, Москва, ул. Дм. Ульянова, д. 11

ResearcherID: GNW-6289-2022

Scopus Author ID: 57222549640

 

Iasmin. A. El-Taravi

11, Dm. Ulyanova street, 117036 Moscow

ResearcherID: GNW-6289-2022

Scopus Author ID: 57222549640

yasmineltaravi@gmail.comhttps://orcid.org/0009-0006-5081-6704ГабараеваЗ. А.GabaraevaZ. A.

Москва

Zalina A. Gabaraeva

Moscow

gabaraevaza@gmail.comhttps://orcid.org/0000-0001-6539-466XПигароваЕ. А.PigarovaE. A.

Пигарова Екатерина Александровна, д.м.н. 

Москва

Ekaterina A. Pigarova, MD, PhD

Moscow

kpigarova@gmail.comhttps://orcid.org/0000-0001-7098-4584БельцевичД. Г.BeltsevichD. G.

Бельцевич Дмитрий Германович, д.м.н., профессор

Москва

Dmitriy G. Beltsevich, MD, PhD, Professor

Moscow

belts67@gmail.comhttps://orcid.org/0000-0002-0327-4619ДзерановаЛ. К.DzeranovaL. K.

Дзеранова Лариса Константиновна, д.м.н.

Москва

Larisa K. Dzeranova, ScD

Moscow

dzeranovalk@yandex.ruhttps://orcid.org/0000-0001-9119-2447ПржиялковскаяЕ. Г.PrzhiyalkovskayaE. G.

Пржиялковская Елена Георгиевна, к.м.н.

Москва

Elena G. Przhiyalkovskaya, MD, PhD

Moscow

przhiyalkovskaya.elena@gmail.comhttps://orcid.org/0000-0003-3535-520XИбрагимоваЛ. И.IbragimovaL. I.

Ибрагимова Людмила Ибрагимовна, к.м.н.

Москва

Liudmila I. Ibragimova, MD, PhD

Moscow

ibragimovaliudmila@gmail.comhttps://orcid.org/0000-0001-7470-1676ВоротниковаС. Ю.VorotnikovaS. Yu.

Воротникова Светлана Юрьевна, к.м.н. 

Москва

Svetlana Y.Vorotnikova, MD, PhD

Moscow

bra_svetix@list.ruГНЦ РФ ФГБУ «НМИЦ эндокринологии им. академика И.И. Дедова» Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation202514022026224374382Copyright © Эбаноидзе Л.Г., Эль-Тарави Я.А., Габараева З.А., Пигарова Е.А., Бельцевич Д.Г., Дзеранова Л.К., Пржиялковская Е.Г., Ибрагимова Л.И., Воротникова С.Ю., 20262026Эбаноидзе Л.Г., Эль-Тарави Я.А., Габараева З.А., Пигарова Е.А., Бельцевич Д.Г., Дзеранова Л.К., Пржиялковская Е.Г., Ибрагимова Л.И., Воротникова С.Ю.Ebanoidze L.G., El-Taravi I.A., Gabaraeva Z.A., Pigarova E.A., Beltsevich D.G., Dzeranova L.K., Przhiyalkovskaya E.G., Ibragimova L.I., Vorotnikova S.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.omet-endojournals.ru/jour/article/view/13268

Синдром множественных эндокринных неоплазий 1 типа (МЭН-1) представляет собой редкое наследственное заболевание, сопровождающееся развитием многофокусных опухолей в эндокринных органах. В статье представлен клинический случай пациентки с подтвержденной мутацией MEN1 (c.203delC p.T70fsX118), у которой на протяжении более 10 лет наблюдались проявления различных компонентов синдрома, включая аденомы околощитовидных желез, нейроэндокринные опухоли поджелудочной железы и микропролактинома гипофиза. Проведены многоэтапные хирургические вмешательства: дуоденопанкреатэктомия, паратиреоидэктомия с аутотрансплантацией, резекция надпочечника и удаление лейомиом пищевода. В работе обсуждаются трудности диагностического поиска первичного очага секреции паратгормона, сложности достижения оптимальных показателей гликемии при абсолютной инсулиновой недостаточности ввиду фульминантного развития сахарного диабета вследствие тотальной панкреатэктомии, а также аспекты репродуктивного здоровья и качества жизни. Приведенный случай подчеркивает важность персонализированного подхода и междисциплинарного ведения пациентов с синдромом МЭН-1.

Multiple endocrine neoplasia type 1 (MEN-1) is a rare hereditary disorder characterized by the development of multifocal tumors in endocrine organs. This article presents a clinical case of a female patient with a confirmed MEN1 mutation (c.203delC p.T70fsX118), who exhibited manifestations of various syndrome components over more than 10 years, including parathyroid adenomas, pancreatic neuroendocrine tumors, and a pituitary microprolactinoma. The patient underwent multiple surgical interventions: duodenopancreatectomy, parathyroidectomy with autotransplantation, adrenal resection, and esophageal leiomyoma removal. The study discusses the challenges in diagnosing the primary source of parathyroid hormone secretion, the difficulties in achieving optimal glycemic control due to absolute insulin deficiency following fulminant diabetes mellitus development after total pancreatectomy, as well as aspects of reproductive health and quality of life. This case highlights the importance of a personalized approach and multidisciplinary management in patients with MEN-1 syndrome.

синдром МЭН-1мутация MEN1нейроэндокринные опухолипервичный гиперпаратиреозаденома гипофизатотальная панкреатэктомиясахарный диабетMEN1 syndromeMEN1 mutationneuroendocrine tumorsprimary hyperparathyroidismpituitary adenomatotal pancreatectomydiabetes mellitusРабота выполнена по инициативе авторов без привлечения финансирования.ReferencesMelmed S, Auchus RJ, Goldfine AB, et al. Williams Textbook of Endocrinology. 15th ed. Philadelphia: Elsevier; 2024Melmed S, Auchus RJ, Goldfine AB, et al. Williams Textbook of Endocrinology. 15th ed. Philadelphia: Elsevier; 2024Lemmens I, Van de Ven WJ, Kas K, Zhang CX et al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet. 1997;6(7):1177–83. doi: https://doi.org/10.1093/hmg/6.7.1177Lemmens I, Van de Ven WJ, Kas K, Zhang CX et al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. 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The authors declare that there are no conflicts of interest present.