ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet13015ometendo-13015Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSРедкий случай сочетания синдрома множественных эндокринных неоплазий и врожденной дисфункции коры надпочечников у одного пациентаA Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasiahttps://orcid.org/0009-0007-0513-498XБондаренкоА. С.BondarenkoA. S.

Бондаренко Аксения Сергеевна.

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

Axenia S. Bondarenko - MD.

11 Dm. Ulyanova street, 117036 Moscow

axenia.bondarenko@gmail.comhttps://orcid.org/0000-0002-9783-3599МамедоваЕ. О.MamedovaE. O.

Мамедова Елизавета Октаевна - к.м.н.

Москва

Elizaveta O. Mamedova - MD, PhD.

Moscow

lilybet@mail.ruhttps://orcid.org/0000-0002-6674-6441БелаяЖ. Е.BelayaZh. E.

Белая Жанна Евгеньевна - д.м.н.

Москва

Zhanna E. Belaya - MD, PhD.

Moscow

jannabelaya@gmail.comhttps://orcid.org/0000-0002-5634-7877МельниченкоГ. А.MelnichenkoG. A.

Мельниченко Галина Афанасьевна - д.м.н., проф.

Москва

Galina A. Melnichenko - MD, PhD, Professor.

Moscow

teofrast2000@mail.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation2024060320242117984Copyright © Бондаренко А.С., Мамедова Е.О., Белая Ж.Е., Мельниченко Г.А., 20242024Бондаренко А.С., Мамедова Е.О., Белая Ж.Е., Мельниченко Г.А.Bondarenko A.S., Mamedova E.O., Belaya Z.E., Melnichenko G.A.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/13015

Синдром множественных эндокринных неоплазий 1 типа (МЭН-1) и врожденная дисфункция коры надпочечников (ВДКН) являются редкими моногенными наследственными эндокринопатиями с распространенностью 1–9 случаев на 100 000 и 9–15 случаев на 100 000 соответственно. МЭН-1 синдром характеризуется развитием множественных опухолей эндокринных и неэндокринных органов, в том числе околощитовидных желез, аденогипофиза и дуодено-панкреатической области, составляющих классическую триаду заболевания. ВДКН связана с наличием генетических дефектов ферментов и транспортных белков, участвующих в синтезе стероидных гормонов коры надпочечников. В целом, случаи сочетания двух наследственных заболеваний у одного пациента встречаются крайне редко. В статье представлено описание клинического случая сочетания МЭН-1 с тремя классическими компонентами и ВДКН, что, учитывая низкую частоту встречаемости обоих заболеваний, представляет научный интерес. До настоящего момента в литературе был описан всего один похожий случай. Кроме того, в работе обсуждается патогенетически обусловленное сочетание врожденной дисфункции коры надпочечников и синдрома Элерса-Данлоса, в англоязычной литературе известное под названием CAH-X синдрома.

Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively. MEN1 is characterized by the development of multiple endocrine and nonendocrine organ tumors, including parathyroid, pituitary, and duodenopancreatic neuroendocrine tumors (NETs), which constitute the classical triad of the disease. CAH is associated with genetic defects in enzymes and transport proteins involved in the synthesis of adrenal cortical steroid hormones. Overall, cases of the combination of two hereditary diseases in one patient are extremely rare. In this article, we describe a clinical case of the combination of MEN-1 with all three classical components and CAH, which, taking into account the low prevalence of both diseases, represents scientific interest. To date, only one similar case has been described in the literature. In addition, the paper discusses the pathogenetically determined combination of CAH and Ehlers-Danlos syndrome, known as the CAH-X syndrome.

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