5 Facts you should know about

Resistance to Thyroid Hormone Syndrome

Resistance to thyroid hormone (RTH) is a rare inherited endocrine disorder, most often caused by dominant mutations in the thyroid hormone receptor beta (THRB) gene, impairing tissue responsiveness to circulating thyroid hormones

Biochemically, RTH is characterized by elevated serum free T4 and T3 with inappropriately normal or elevated TSH, distinguishing it from primary hyperthyroidism

Clinical presentation is highly variable — some patients are asymptomatic, while others show goiter, tachycardia, hyperactivity, learning difficulties, or features of hypothyroidism, reflecting tissue-specific resistance

Differential diagnosis includes TSH-secreting pituitary adenoma, making genetic testing critical for confirmation

Management is individualized and may involve beta-blockers for tachycardia, thyroid ablation in select cases, or watchful monitoring, depending on symptom severity and target organ involvement

Learn more about this disease

References:
Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993;14(3):348–399. doi:10.1210/edrv-14-3-348 Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013;1830(7):3987–4003. doi:10.1016/j.bbagen.2012.08.005 Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by a mutation in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1992;74(1):49–55. doi:10.1210/jcem.74.1.1530796 Weiss RE, Refetoff S. Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000;1(1-2):97–108. doi:10.1023/a:1010082411464 Chatterjee VK, Halsall D, Gurnell M. Resistance to thyroid hormone: Advances in diagnosis and treatment. Endocr Pract. 2016;22(7):726–735. doi:10.4158/EP151136.RA Do you want me to also prepare A

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