Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism

摘要

Resistance to thyroid hormone (RTH) was first described in 1967 [1], and the first mutations in the THRB gene were identified in 1989 [2, 3], only 3 years after the cloning of the THR genes [4, 5]. The cardinal features of this syndrome of reduced sensitivity to thyroid hormone are elevated serum levels of free thyroid hormone with nonsuppressed TSH, often with goiter and no clear symptoms and signs of thyrotoxicosis [6]. In fact, signs of decreased and increased thyroid hormone action in different tissues may coexist.