Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone

摘要

Forty years have elapsed since the first published description of partial refractoriness to thyroid hormone (TH) (Refetoff S et al. [1967] J Clin Endocrinol Metab 27:279-294). The three affected children, born to consanguineous parents, manifested symptoms of TH insufficiency but had elevated blood levels of TH. This apparent resistance to TH (RTH) was found in other families who presented with the cardinal signs: high serum TH levels, nonsuppressed TSH, lack of typical symptoms and signs of thyrotoxicosis and goiter. More that 2,000 affected individuals belonging to about 500 families have been identified, 85% of whom harbor mutations in the TH receptor beta gene (THRB).