ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2020.72.09ymj-719Research ArticleМЕТОДЫ ДИАГНОСТИКИ И ЛЕЧЕНИЯMETHODS OF DIAGNOSIS AND TREATMENTАнализ уровня гормонов щитовидной железы у пациентов с нарушениями слуха в Республике Бурятия: поиск фенотипов, соответствующих клинической картине синдрома ПендредаAnalysis of thyroid hormone levels in patients with hearing disorders in the Republic of Buryatia: search for Pendred syndrome phenotypeshttps://orcid.org/0000-0002-6984-7934БарашковН. А.BarashkovN. A.

Барашков Николай Алексеевич – к.б.н., в.н.с.-руковод. лаб.

Barashkov Nikolay Alekseevich – Ph.D, head of the laboratory

Yakutsk

barashkov2004@mail.ruhttps://orcid.org/0000-0001-6866-9462ПшенниковаВ. Г.PshennikovaV. G.

Пшенникова Вера Геннадиевна – к.б.н., в.н.с.-руковод. лаб.

Pshennikova Vera Gennadievna – Ph.D, head of the laboratory

https://orcid.org/0000-0002-8659-0886ТерютинФ. М.TeryutinF. M.

Терютин Федор Михайлович – к.м.н., с.н.с.

Teryutin Fyodor Mikhailovich – Ph.D, senior researcher

https://orcid.org/0000-0002-2143-0021КононоваС. К.KononovaS. K.

Кононова Сардана Кононовна – к.б.н., с.н.с

Kononova Sardana Kononovna - Ph.D, senior researcher

ЧердоноваА. М.CherdonovaA. M.

Чердонова Александра Матвеевна – аспирант

Cherdonova Aleksandra Matveevna – postgraduate

https://orcid.org/0000-0003-0914-3609СоловьевА. В.SolovyevA. V.

Соловьев Айсен Васильевич – к.б.н., с.н.с.

Solovyev Aisen Vasilyevich - Ph.D., senior researcher

https://orcid.org/0000-0002-4687-4868КузьминаС. С.KuzminaS. S.

Кузьмина Саргылана Семеновна – к.б.н., доцент

Kuzmina Sargylana Semenovna – Ph.D, associate professor

https://orcid.org/0000-0002-2936-5818РомановГ. П.RomanovG. P.

Романов Георгий Прокопьевич – н.с.

Romanov Georgii Prokopievich – researcher

https://orcid.org/0000-0002-0748-199XСазоновН. Н.SazonovN. N.

Сазонов Николай Никитич – д.б.н., проф.

Sazonov Nikolay Nikitich – Ph.D, professor

https://orcid.org/0000-0002-6952-3868ФедороваС. А.FedorovaS. A.

Федорова Сардана Аркадьевна - д.б.н., г.н.с.

Fedorova Sardana Arkad'evna - Ph.D, principal researcher

Якутский научный центр комплексных медицинских проблемРоссияYakutsk scientific center for complex medical problemsRussian FederationСеверо-Восточный федеральный университет им. М.К. АммосоваРоссияM.K. Ammosov North-Eastern Federal UniversityRussian Federation202002062025043437Copyright © Барашков Н.А., Пшенникова В.Г., Терютин Ф.М., Кононова С.К., Чердонова А.М., Соловьев А.В., Кузьмина С.С., Романов Г.П., Сазонов Н.Н., Федорова С.А., 20252025Барашков Н.А., Пшенникова В.Г., Терютин Ф.М., Кононова С.К., Чердонова А.М., Соловьев А.В., Кузьмина С.С., Романов Г.П., Сазонов Н.Н., Федорова С.А.Barashkov N.A., Pshennikova V.G., Teryutin F.M., Kononova S.K., Cherdonova A.M., Solovyev A.V., Kuzmina S.S., Romanov G.P., Sazonov N.N., Fedorova S.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/719

В статье представлены результаты диагностического поиска фенотипов, соответствующих клинической картине синдрома Пендреда (сенсоневральная глухота, сочетанная с нарушениями работы щитовидной железы, чаще гипотиреоз), проведенного с помощью инструментальных и лабораторных методов исследования у пациентов с нарушениями слуха в Республике Бурятия. Анализ показал, что у 7,9% пациентов с тяжелой степенью тугоухости и глухоты были зарегистрированы клинически значимые отклонения в уровнях гормонов щитовидной железы. Выявлено 7,3% глухих пациентов с гипотиреозом, формально соответствующих клинической картине, характерной для синдрома Пендреда.

The article presents the results of the diagnostic search of the hereditary autosomal recessive disease Pendred's syndrome (sensorineural deafness combined with thyroid disorders) in patients with hearing disorders in Buryatia using instrumental (threshold tone audiometry) and laboratory methods (ELISA analysis of FT3, FT4 and TSH). Threshold tonal audiometry and analysis of thyroid hormone levels were performed in 164 patients with hearing impairment. The analysis showed that 7.9% (13 out of 164 people) of patients with severe hearing loss and deafness can be assumed to have thyroid disorders (12 people – hypothyroidism, 1 person – hyperthyroidism). Overall, 7.3% of deaf patients with hypothyroidism (12 of 164) were formally consistent with the clinical features characteristic of Pendred's syndrome.

Синдром Пендреданарушения слухатиреотропный гормон (ТТГ)свободный трийодтиронин (св.Т3)свободный тироксин (св.Т4)БурятияPendred's syndromehearing impairmentthyroid-stimulating hormone (TSH)free triiodothyronine (FT3)free thyroxine (FT4)BuryatiaРабота выполнена в рамках НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии популяций Республики Саха (Якутия)», базовой части госзадания Министерства науки и образования РФ (FSRG-2020-0016) и при поддержке грантов РФФИ (18-05- 600035_Арктика, 18-015-00212_A, 20- 015-00328_A).The work was performed as part of the research YSC ILC "to study the genetic structure and the load of hereditary pathology of the population of the Republic of Sakha (Yakutia)", the base part of state assignment of Ministry of science and education RF (FSRG-2020-0016) and with the support of grants RFBR (18- 05-600035_Аrctika, 18-015-00212_A, 20-015-00328_A).ReferencesДедов И.И. Болезни органов эндокринной системы: руководство для врачей / И.И. 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The authors declare that there are no conflicts of interest present.