Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor beta gene Report of one Chinese pedigree and review of the literature

摘要

Background: Thyroid hormone resistance syndrome (THRS) is a rare disorder with increased concentrations of free thyroxine (FT4) and triiodothyronine (FT3), but normal or slightly increased thyroid-stimulating hormone (TSH). The mutations in the thyroid hormone receptor beta (THR beta) gene are thought to be the main pathogenesis.