| Resistance to thyroid hormone (RTH) is a syndrome of reduced responsiveness of target tissues to thyroid hormone (TH). RTH is a rare autosomal dominant disorder, characterized clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in the presence of measurable serum TSH concentrations. About 85% of patients with RTH are harboring mutations in thyroid hormone receptor beta (TRβ). Higher doses of exogenous TH are required to produce the expected suppressive effect on the secretion of pituitary TSH and on the metabolic responses in peripheral tissues. The purpose of this article is to present a case report of RTH. A review of the relevant literature is also provided.
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