Thyroid hormone resistance syndrome: Diagnostic and therapeutic challenges
https://doi.org/10.62751/2713-0177-2025-6-4-12
Abstract
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.
About the Authors
E. A. Lebedeva
Samara State Medical University of the Ministry of Healthcare of Russia
Russian Federation
Russian Federation
Elena A. Lebedeva – D. Sci. (Med.), Professor, Department of Hospital Therapy with Courses in Hematology and Transfusiology
Samara
E. G. Mikhaylova
Samara Regional Children's Clinical Hospital named after N.N. Ivanova
Russian Federation
Russian Federation
Evgenia G. Mikhailova, C. Sci. (Med.), Head of the Department of Endocrinology, Associate Professor, Department of Pediatrics, Institute of Postgraduate Education
Samara
E. V. Kalabina
Samara Regional Children's Clinical Hospital named after N.N. Ivanova
Russian Federation
Russian Federation
Evgenia V. Kalabina – Endocrinologist
Samara
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Review
For citations:
Lebedeva E.A., Mikhaylova E.G., Kalabina E.V. Thyroid hormone resistance syndrome: Diagnostic and therapeutic challenges. FOCUS. Endocrinology. 2025;6(4):100-104. (In Russ.) https://doi.org/10.62751/2713-0177-2025-6-4-12
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