ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet13276ometendo-13276Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL STUDIESБолезни геномного импринтинга в структуре синдромального ожирения у детейGenomic imprinting disorders in the structure of syndromic obesity in childrenhttps://orcid.org/0000-0002-9299-1053ВасюковаО. В.VasyukovaO. V.

Васюкова Ольга Владимировна, к.м.н.

Researcher ID: AAO-3750-2020

Scopus Author ID: 57192194141

Москва

Olga V. Vasyukova, MD, PhD

Researcher ID: AAO-3750-2020

Scopus Author ID: 57192194141

Moscow

Vasukova.Olga@endocrincentr.ruhttps://orcid.org/0009-0002-6499-4684Атавина-ЕрмаковаЕ. П.Atavina-ErmakovaE. P.

Атавина-Ермакова Евгения Павловна

Москва

Evgeniia P. Atavina-Ermakova, MD

Moscow

atavinaermakovae@gmail.comhttps://orcid.org/0000-0002-9158-2522ПанченкоЕ. Г.PanchenkoE. G.

Панченко Елизавета Григорьевна, м.н.с. 

ID РИНЦ: 1080414

WoS: JXX-3224-2024

Москва

Elizaveta G. Panchenko

 ID РИНЦ: 1080414

WoS: JXX-3224-2024

Moscow

pangen1994@gmail.comhttps://orcid.org/0009-0000-2932-0399КопытинаД. А.KopytinaD. A.

Копытина Дарья Александровна

Scopus Author ID: 58853779500

Москва

Daria A. Kopytina, MD

Scopus Author ID: 58853779500

Moscow

Kopytina.Daria@endocrincentr.ruhttps://orcid.org/0000-0002-4965-9979СимоноваО. А.SimonovaO. A.

Симонова Ольга Анатольевна

Scopus: 56107313400

WoS: D-2157-2012

ID РИНЦ: 896923

Москва

Olga A. Simonova

Scopus: 56107313400

WoS: D-2157-2012

ID РИНЦ: 896923

Moscow

simonova_o.a@mail.ruhttps://orcid.org/0000-0003-3476-2225УдаловаВ. Ю.UdalovaV. Y.

Удалова Василиса Юрьевна

Scopus ID: 57897149800

Москва

Vasilisa Y. Udalova

Scopus ID: 57897149800

Moscow

udalova@genomed.ruhttps://orcid.org/0000-0001-5821-9783КанивецИ. В.KanivetsI. V.

Канивец Илья Вячеславович 

Москва

Ilya V. Kanivets

Moscow

https://orcid.org/0009-0002-7001-4099АкимоваД. Б.AkimovaD. B.

Акимова Дарья Борисовна

Scopus ID: 59341366000

WoS: ADV-3867-2022

Москва

Daria B. Akimova

Scopus ID: 59341366000

WoS: ADV-3867-2022

Moscow

mkda6ka@mail.ruhttps://orcid.org/0000-0002-7293-3438СкобловМ. Ю.SkoblovM. Y.

Скоблов Михаил Юрьевич, к.б.н. 

РИНЦ Author ID: 124376

Scopus ID 8979068100

WoS: P-1387-2015

Москва

Mikhail Y. Skoblov

РИНЦ Author ID: 124376

Scopus ID: 8979068100

WoS: P-1387-2015

Moscow

mskoblov@gmail.comhttps://orcid.org/0009-0002-3078-1226АндрееваМ. А.AndreevaM. A.

Андреева Мария Александровна 

Москва

Maria A. Andreeva

Moscow

https://orcid.org/0000-0001-6429-7198НагаеваЕ. В.NagaevaE. V.

Нагаева Елена Витальевна, д.м.н.

Москва

Elena V. Nagaeva, MD, PhD

Moscow

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

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

ResearcherID: AAY-3761-2020

Scopus Author ID: 35269746000

Москва

Natalia G. Mokrysheva, MD, PhD, Professor

ResearcherID: AAY-3761-2020

Scopus Author ID: 35269746000

Moscow

mokrisheva.natalia@endocrincentr.ruГНЦ ФГБУ «Национальный медицинский исследовательский центр эндокринологии имени академика И.И. Дедова»РоссияEndocrinology Research CentreRussian FederationФГБНУ «МГНЦ имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian FederationООО «Геномед»РоссияLLC «GENOMED»Russian Federation202509122025223180195Copyright © Васюкова О.В., Атавина-Ермакова Е.П., Панченко Е.Г., Копытина Д.А., Симонова О.А., Удалова В.Ю., Канивец И.В., Акимова Д.Б., Скоблов М.Ю., Андреева М.А., Нагаева Е.В., Мокрышева Н.Г., 20252025Васюкова О.В., Атавина-Ермакова Е.П., Панченко Е.Г., Копытина Д.А., Симонова О.А., Удалова В.Ю., Канивец И.В., Акимова Д.Б., Скоблов М.Ю., Андреева М.А., Нагаева Е.В., Мокрышева Н.Г.Vasyukova O.V., Atavina-Ermakova E.P., Panchenko E.G., Kopytina D.A., Simonova O.A., Udalova V.Y., Kanivets I.V., Akimova D.B., Skoblov M.Y., Andreeva M.A., Nagaeva E.V., 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.omet-endojournals.ru/jour/article/view/13276Обоснование

Обоснование. Болезни геномного импринтинга — это особый класс наследственных заболеваний, обусловленных нарушением моноаллельной экспрессии генов. Некоторые из них тесно связаны с развитием ожирения и метаболических расстройств. Такие синдромы, как Прадера-Вилли, Ангельмана, Шаафа-Янг, Темпл, псевдогипопаратиреоз 1а и 1b типов, иллюстрируют, как дисрегуляция экспрессии импринтированных генов может приводить к нарушению энергетического баланса, гиперфагии, снижению физической активности и аномальному распределению жировой ткани. В настоящее время в структуре раннего и тяжелого ожирения неуклонно возрастает удельный вес случаев, обусловленных именно генетическими причинами.

Цель

Цель. Изучить клинические и генетические характеристики синдромальных форм ожирения у детей.

Материалы и методы

Материалы и методы. Ретроспективное несравнительное исследование. В исследование включены 186 пациентов, обследованных в ГНЦ ФГБУ «НМИЦ эндокринологии имени академика И.И. Дедова» с подозрением на генетические формы ожирения в период с октября 2022 по май 2025 гг.

Результаты

Результаты. У 12% пациентов (n=22) было подтверждено наличие болезней геномного импринтинга: синдром Прадера-Вилли (n=12), синдром Ангельмана (n=1), синдром Шаафа-Янг (n=1), синдром Темпл (n=1), мультилокусные нарушения импринтинга (MLID) (n=1), псевдогипопаратиреоз 1а типа (n=6). На момент обследования избыточный вес (SDS ИМТ 1,0–1,9 SD) имели 13,6% (n=3), ожирение 1 степени (SDS ИМТ 2,0 2,4 SD) имели 4,6% (n=1), ожирение 3 степени (SDS ИМТ 3,0–3,9 SD) имели 18,2% (n=4), морбидное ожирение (SDS ИМТ≥4,0 SD) — 40,9% (n=9). Избыточный набор массы тела на 1-м году жизни отмечался в 40,9% случаев (n=9), и в 31,8% (n=7) со 2-го года жизни. Полифагия клинически была выявлена в 54,5% случаев (n=12). Наследственность по ожирению была отягощена в 31,8% случаев (n=7). Медиана SDS ИМТ составила 3,71 SD [1,8025; 4,2875]. У 13 из 17 пациентов отмечались осложнения ожирения и избыточной массы тела.

Заключение

Заключение. В работе представлены генетические и клинические характеристики болезней геномного импринтинга в структуре синдромального ожирения у детей в Российской Федерации.

BACKGROUND

BACKGROUND. Genomic imprinting disorders represent a distinct class of hereditary diseases caused by disruption of the monoallelic expression of imprinted genes. Several of them are closely associated with obesity and metabolic disturbances. Syndromes such as Prader–Willi, Angelman, Schaaf–Yang, Temple, and pseudohypoparathyroidism types 1a and 1b illustrate how dysregulation of imprinted gene expression can lead to energy imbalance, hyperphagia, reduced physical activity, and abnormal fat distribution. Currently, the proportion of early-onset and severe obesity cases caused by genetic factors is steadily increasing.

AIM

AIM. To study the clinical and genetic characteristics of syndromic forms of obesity in children.

MATERIALS AND METHODS

MATERIALS AND METHODS. A retrospective non-comparative study. The study included 186 patients who were examined at the Endocrinology Research Center with suspected genetic forms of obesity in the period from October 2022 to May 2025.

RESULTS

RESULTS. Genomic imprinting disorders were confirmed in 12% of patients (n=22), including: Prader–Willi syndrome (n=12), Angelman syndrome (n=1), Schaaf–Yang syndrome (n=1), Temple syndrome (n=1), multilocus imprinting disturbances (MLID) (n=1), and pseudohypoparathyroidism type 1a (n=6). At the time of examination: 13.6% (n=3) had overweight (BMI SDS 1.0–1.9 SD), 4.6% (n=1) had grade 1 obesity (BMI SDS 2.0–2.4 SD), 18.2% (n=4) had grade 3 obesity (BMI SDS 3.0–3.9 SD), and 40.9% (n=9) had morbid obesity (BMI SDS≥4.0 SD). Excessive weight gain during the first year of life was observed in 40.9% (n=9), and in 31.8% (n=7) starting from the second year of life. Clinical signs of hyperphagia were identified in 54.5% of cases (n=12). A positive family history of obesity was identified in 31.8% of cases (n=7). The median BMI SDS was 3.71 SD [1.8025; 4.2875]. Obesity- and overweight-related complications were observed in 13 out of 17 patients.

CONCLUSION

CONCLUSION. The study presents the genetic and clinical characteristics of genomic imprinting disorders within the structure of syndromic obesity in children in the Russian Federation.

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