Abstract
Resistance to thyroid hormone (RTH) is a syndrome of reduced responsiveness of target tissues to thyroid hormone (TH). Patients with RTH are identified by persistent elevation of circulating free TH levels with non-suppressed serum TSH. The underlying genetic defect is usually, but not always, a mutation in the TRβ gene. The frequency of de novo mutations is estimated to 21%. The inheritance is autosomal dominant. The clinical presentation varies significantly among different patients. However, goiter and the absence of neuropsychological symptoms and metabolic sequences of TH excess belong to the common features of the syndrome.
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