甲状腺激素不敏感综合征分子机制的研究进展

Progress in the study of molecular mechaulsms in thyroid hormone insensitive syndrome

甲状腺激素不敏感综合征是由于靶器官对甲状腺激素的反应性降低而引起的一种遗传性疾病。大多数甲状腺激素不敏感综合征与甲状腺激素受体B基因突变有关。近年来研究发现甲状腺激素特异性转运体——MCT8基因突变、碘化甲状腺原氨酸脱碘酶合成过程中SBP2，基因突变也可引起两种特殊类型的甲状腺激素不敏感综合征。3种分子机制导致的甲状腺激素不敏感综合征临床表现和甲状腺功能改变截然不同。

Thyroid hormone insensitive syndrome is an inherited disease characterized by decreased target tissue responsiveness to thyroid hormone. Most cases are due to thyroid hormone receptor β gene mutation. Two novel types of thyroid hormone insensitive syndrome were recently identified, which are caused by gene mutations of MCTS, a specific thyroid hormone transporter, and SBP2 in the synthesis of deiodinase.