A new TR beta mutation in resistance to thyroid hormone syndrome

作者：Neamtu Corina^*; Tupea Claudiu; Paun Diana; Hoisescu Anca; Ghemigian Adina; Refetoff Samuel; Sriphrapradang Chutintorn

来源：Hormones-International Journal of Endocrinology and Metabolism, 2016, 15(4): 534-539.

DOI：10.14310/horm.2002.1700

• Mutation
• Resistance to thyroid hormone
• Single nucleotide substitution
• Thyroid hormone receptors

Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TR a1) and beta (TR beta 1 and TR beta 2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity to the action of thyroid hormones. We report the case of a family harbouring a novel TR beta mutation. Sequencing of the TR beta gene revealed a single nucleotide substitution-C to G in codon 340: glutamine was replaced by glutamic acid. The clinical picture and biochemical and hormonal panel showed significant differences within the family, despite their sharing the same mutation. We also present the result of low-dose antithyroid treatment in one member of the family diagnosed with this rare condition.

• 出版日期2016-12