Thyroid hormone resistance syndrome: Diagnostic and therapeutic challenges

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.