problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl2017632110-113problendo-8222Research ArticleКлинические случаиCase ReportsСлучай врожденного гипотиреоза в сочетании с нейросенсорной тугоухостью (синдром Пендреда), обусловленный дефектом гена TPOA case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defecthttps://orcid.org/0000-0003-0412-7140МакрецкаяНина АлексеевнаMakretskayaNina A.

аспирант ФГБУ «Эндокринологический научный центр»

MD

makretskayan@gmail.comhttps://orcid.org/0000-0001-9621-5732БезлепкинаОльга БорисовнаBezlepkinaOlga B.

д.м.н., профессор, заместитель директора ФГБУ «Эндокринологический научный центр» по научно-лечебной работе

MD, PhD, Professor

olgabezlepkina@mail.ruhttps://orcid.org/0000-0002-4743-4661ЧикулаеваОльга АлександровнаChikulaevaOlga A.

к.м.н., ведущий научный сотрудник ФГБУ «Эндокринологический научный центр», Заместитель директора Института детской эндокринологии по лечебной работе

MD, PhD

chikulaeva.olga@gmail.comhttps://orcid.org/0000-0003-1107-362XВасильевЕвгений ВитальевичVasilyevEvgeny V.

к.б.н., старший научный сотрудник ФГБУ «Эндокринологический научный центр»

PhD

vas-evg@yandex.ruhttps://orcid.org/0000-0002-0520-9132ПетровВасилий МихайловичPetrovVasiliy M.

к.х.н., старший научный сотрудник ФГБУ «Эндокринологический научный центр», Москва, Российская Федерация

PhD

petrov.vasiliy@gmail.comhttps://orcid.org/0000-0002-8175-7886ДедовИван ИвановичDedovIvan I.

д.м.н., академик РАН, профессор, директор ФГБУ «Эндокринологический научный центр»

MD, PhD, Professor

dedov@endocrincentr.ruhttps://orcid.org/0000-0001-8500-4841ТюльпаковАнатолий НиколаевичTiulpakovAnatoly N.

д.м.н., заведующий отделением наследственных эндокринопатий ФГБУ «Эндокринологический научный центр»

MD, PhD

anatolytiulpakov@gmail.com<p>ФГБУ &laquo;Эндокринологический научный центр&raquo; Минздрава России</p>Россия<p>Endocrinology Research Centre</p>Russian Federation201704072017632110113Copyright &#x00A9; Макрецкая Н.А., Безлепкина О.Б., Чикулаева О.А., Васильев Е.В., Петров В.М., Дедов И.И., Тюльпаков А.Н., 20172017Макрецкая Н.А., Безлепкина О.Б., Чикулаева О.А., Васильев Е.В., Петров В.М., Дедов И.И., Тюльпаков А.Н.Makretskaya N.A., Bezlepkina O.B., Chikulaeva O.A., Vasilyev E.V., Petrov V.M., Dedov I.I., Tiulpakov A.N.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/8222

Врожденный гипотиреоз — генетически гетерогенная группа заболеваний, в основе которой лежат два механизма развития: дисгенез железы и дисгормоногенез. В структуре заболевания выделяют ряд синдромальных форм, одной из которых является сочетание врожденного гипотиреоза и нейросенсорной тугоухости (синдром Пендреда), первоначально ассоциированной с дефектами гена SLC26A4. В статье представлено описание пациента с клиническими проявлениями синдрома Пендреда, у которого при проведении молекулярно-генетического исследования методом секвенирования следующего поколения (NGS) был выявлен дефект гена TPO. Таким образом, сочетание врожденного гипотиреоза и нейросенсорной тугоухости может иметь различную молекулярную основу. Полученные данные иллюстрируют ценность использования NGS для генетической верификации диагноза.

Congenital hypothyroidism is a genetically heterogeneous group of diseases caused by two mechanisms: gland dysgenesis and dyshormonogenesis. The disease pattern includes a number of syndromic forms, one of which is a combination of congenital hypothyroidism and sensorineural hearing loss (Pendred syndrome) initially associated with SLC26A4 gene defects. The article describes a patient with clinical manifestations of Pendred syndrome who was diagnosed with a TPO gene defect during a molecular genetic analysis using next generation sequencing (NGS). Therefore, a combination of congenital hypothyroidism and sensorineural hearing loss can have a different molecular basis. Our findings illustrate the value of NGS for genetic verification of the diagnosis.

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