endofocusFOCUS ЭндокринологияFOCUS. Endocrinology2713-01772713-0185ООО "Издательство "Перо"10.62751/2713-0177-2025-6-4-12endofocus-183Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEСиндром резистентности к тиреоидным гормонам: трудности диагностики и леченияThyroid hormone resistance syndrome: Diagnostic and therapeutic challengeshttps://orcid.org/0000-0001-6494-3778ЛебедеваЕ. А.LebedevaE. A.

Лебедева Елена Алексеевна – д.м.н., профессор кафедры госпитальной терапии с курсами гематологии и трансфузиологии

г. Самара

Elena A. Lebedeva – D. Sci. (Med.), Professor, Department of Hospital Therapy with Courses in Hematology and Transfusiology

Samara

endocrinolog63@mail.ruhttps://orcid.org/0000-0002-2213-6334МихайловаЕ. Г.MikhaylovaE. G.

Михайлова Евгения Геннадиевна – к.м.н., заведующая отделением эндокринологии

г. Самара

Evgenia G. Mikhailova, C. Sci. (Med.), Head of the Department of Endocrinology, Associate Professor, Department of Pediatrics, Institute of Postgraduate Education

Samara

e.mikhailova13@yandex.ruhttps://orcid.org/0009-0007-1061-710XКалабинаЕ. В.KalabinaE. V.

Калабина Евгения Владимировна – врач-эндокринолог

 г. Самара

Evgenia V. Kalabina – Endocrinologist

Samara

kalabinaev@yandex.ruФГБОУ ВО «Самарский государственный медицинский университет» Минздрава РоссииSamara State Medical University of the Ministry of Healthcare of RussiaГБУЗ «Самарская областная детская клиническая больница им. Н.Н. Ивановой»Samara Regional Children's Clinical Hospital named after N.N. Ivanova20252712202564Нейроэндокринология100104Copyright © Лебедева Е.А., Михайлова Е.Г., Калабина Е.В., 20252025Лебедева Е.А., Михайлова Е.Г., Калабина Е.В.Lebedeva E.A., Mikhaylova E.G., Kalabina E.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://endofocus.elpub.ru/jour/article/view/183

Синдром резистентности к тиреоидным гормоном (СРТГ) – редкое генетически обусловленное заболевание, вызванное мутациями в гене тиреоидного рецептора β. Для него характерно необычное сочетание высоких показателей тиреотропного и тиреоидных гормонов. Основным проявлением СРТГ выступает зоб, при этом его клиника разнообразна: у одного и того же пациента могут наблюдаться симптомы и тиреотоксикоза, и гипотиреоза, кроме того, даже больные с одинаковой мутацией в гене тиреоидного гормона в пределах одной семьи подчас демонстрируют совершенно разную клиническую картину. Все это создает трудности в выборе терапии. Особенностью лечения СРТГ является назначение препаратов тиреоидных гормонов в высоких дозах в сочетании с бета-блокаторами. При этом необходимо избегать назначения тиреостатиков, тиреоидэктомии, радиойодтерапии. Цель предлагаемой статьи – повысить осведомленность врачей об этом редком заболевании.

Thyroid hormone resistance syndrome (THRS) is a rare genetic disorder caused by mutations in the thyroid hormone receptor beta (THRB) gene. It is characterized by an unusual combination of elevated levels of thyroid-stimulating hormone and thyroid hormones. The primary symptom of THRS is goiter. The clinical presentation is diverse, with the same patient exhibiting both symptoms of thyrotoxicosis and hypothyroidism. Even patients with the same mutation in the thyroid hormone receptor gene within the same family demonstrate completely different clinical pictures. All this creates difficulties in choosing a therapy. A peculiarity of the treatment of THRS is the administration of high-dose thyroid hormone preparations in combination with beta-blockers. The use of thyrostatic drugs, thyroidectomy, and radioiodine therapy should be avoided. This article aims to raise awareness among physicians about this disease.

синдром резистентности к тиреоидным гормонамгипертиреоидизммутации тиреоидного рецептораthyroid hormone resistance syndromehyperthyroidismthyroid receptor mutationsReferencesPrakash K, Hamid P. Thyroid hormone resistance syndrome: From molecular mechanisms to its potential contribution to hypertension. Cureus 2023;15(12):e49913. doi: 10.7759/cureus.49913.Prakash K, Hamid P. Thyroid hormone resistance syndrome: From molecular mechanisms to its potential contribution to hypertension. Cureus 2023;15(12):e49913. doi: 10.7759/cureus.49913.Шатыр Ю.А., Срослова Г.А., Назаров Н.О., Глушаков Р.И. Современные представления о регулировании активности тиреоидных гормонов и механизме их действия на клеточном уровне (обзор). Журнал медико-биологических исследований. 2025;13(1):115–125. doi: 10.37482/2687-1491-Z234.Шатыр Ю.А., Срослова Г.А., Назаров Н.О., Глушаков Р.И. Современные представления о регулировании активности тиреоидных гормонов и механизме их действия на клеточном уровне (обзор). Журнал медико-биологических исследований. 2025;13(1):115–125. doi: 10.37482/2687-1491-Z234.Concolino P, Costella A, Paragliola RM. Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHbeta). Mol Diagn Ther. 2019; 23: 353–368. doi: 10.1007/s40291-019-00399-wConcolino P, Costella A, Paragliola RM. Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHbeta). Mol Diagn Ther. 2019; 23: 353–368. doi: 10.1007/s40291-019-00399-wPappa T, Refetoff S. Resistance to thyroid hormone beta: A focused review. Front Endocrinol (Lausanne). 2021;12:656551. doi: 10.3389/fendo.2021.656551.Pappa T, Refetoff S. Resistance to thyroid hormone beta: A focused review. Front Endocrinol (Lausanne). 2021;12:656551. doi: 10.3389/fendo.2021.656551.Campi I, Covelli D, Moran C, Fugazzola L, Cacciatore C, et al. The Differential Diagnosis of Discrepant Thyroid Function Tests: Insistent Pitfalls and Updated Flow-Chart Based on a Long-Standing Experience. Front Endocrinol (Lausanne). 2020; 11:432. doi:10.3389/fendo.2020.00432Campi I, Covelli D, Moran C, Fugazzola L, Cacciatore C, et al. The Differential Diagnosis of Discrepant Thyroid Function Tests: Insistent Pitfalls and Updated Flow-Chart Based on a Long-Standing Experience. Front Endocrinol (Lausanne). 2020; 11:432. doi:10.3389/fendo.2020.00432Barkoff MS, Kocherginsky M, Anselmo J, Weiss RE, Refetoff S. Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010; 95: 3189–3193. Doi:10.1210/jc.2009-2179Barkoff MS, Kocherginsky M, Anselmo J, Weiss RE, Refetoff S. Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010; 95: 3189–3193. Doi:10.1210/jc.2009-2179Xie Z, Li C, An Y, Zhao D, Wang X. Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto's thyroiditis: A pedigree report. J Int Med Res. 2022; 50(7): 3000605221109398. doi: 10.1177/03000605221109398Xie Z, Li C, An Y, Zhao D, Wang X. Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto's thyroiditis: A pedigree report. J Int Med Res. 2022; 50(7): 3000605221109398. doi: 10.1177/03000605221109398Anselmo J, Refetoff S. Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004; 14: 71–74. doi:10.1089/105072504322783876Anselmo J, Refetoff S. Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004; 14: 71–74. doi:10.1089/105072504322783876Persani L, Rodien P, Moran C, Visser WE, Groeneweg S, Peeters R et al. 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Eur Thyroid J. 2024;13(4):e240125. doi: 10.1530/ETJ-24-0125.Persani L, Rodien P, Moran C, Visser WE, Groeneweg S, Peeters R et al. 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Eur Thyroid J. 2024;13(4):e240125. doi: 10.1530/ETJ-24-0125.Unluturk U, Sriphrapradang C, Erdogan MF, Emral R, Guldiken S, Refetoff S, et al. Management of differentiated thyroid cancer in the presence of resistance to thyroid hormone and TSH-secreting adenomas: a report of four cases and review of the literature. J Clin Endocrinol Metab. 2013; 98: 2210–2217. Doi: 10.1210/jc.2012-4142Unluturk U, Sriphrapradang C, Erdogan MF, Emral R, Guldiken S, Refetoff S, et al. Management of differentiated thyroid cancer in the presence of resistance to thyroid hormone and TSH-secreting adenomas: a report of four cases and review of the literature. J Clin Endocrinol Metab. 2013; 98: 2210–2217. Doi: 10.1210/jc.2012-4142Groeneweg S, Peeters RP, Visser TJ, Visser WE. Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes. Mol Cell Endocrinol. 2017; 458:82–90. doi: 10.1016/j.mce.2017.02.029.Groeneweg S, Peeters RP, Visser TJ, Visser WE. Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes. Mol Cell Endocrinol. 2017; 458:82–90. doi: 10.1016/j.mce.2017.02.029.Anzai R, Adachi M, Sho N, Muroya K, Asakura Y, Onigata K. Long-term 3,5,3’-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations. Thyroid. 2012; 22: 1069–1075. Doi: 10.1089/thy.2011.0450Anzai R, Adachi M, Sho N, Muroya K, Asakura Y, Onigata K. Long-term 3,5,3’-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations. Thyroid. 2012; 22: 1069–1075. Doi: 10.1089/thy.2011.0450Weiss R, Stein M, Refetoff. Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid. 2009; 7(3): doi:10.1089/thy.1997.7.389Weiss R, Stein M, Refetoff. Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid. 2009; 7(3): doi:10.1089/thy.1997.7.389Pappa T., Anselvo J., Mamanasiri S, Dumitrescu A. et al.Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017; 102 (10): 3775–3782. doi: 10.1210/jc.2017-01251Pappa T., Anselvo J., Mamanasiri S, Dumitrescu A. et al.Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017; 102 (10): 3775–3782. doi: 10.1210/jc.2017-01251Rezgani I, Chihaoui M, Oueslati I, Chaker F, Nagi S, Yazidi M. Thyroid hormone resistance syndrome coused by a novel mutation in the thyroid hormone receptor-beta gene (THRB, GLU457Lys) treated with metimazole. Clin Case Rep. 2022;10(11):e6543. doi: 10.1002/ccr3.6543.Rezgani I, Chihaoui M, Oueslati I, Chaker F, Nagi S, Yazidi M. Thyroid hormone resistance syndrome coused by a novel mutation in the thyroid hormone receptor-beta gene (THRB, GLU457Lys) treated with metimazole. Clin Case Rep. 2022;10(11):e6543. doi: 10.1002/ccr3.6543.

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