Dumitrescu Alexandra M., Korwutthikulrangsri Manassawee, Refetof Samuel
Department of Medicine, The University of Chicago, Chicago, Illinois 60637-1470
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand
Resistance to thyroid hormone (RTH), a syndrome of reduced responsiveness of target tissues to thyroid hormone (TH) was identified in 1967 (1). An early report proposed various mechanisms including defects in TH transport, metabolism and action (2). However, with the identification of () gene mutations in 1989 (3, 4), the term RTH became synonymous with defects of this specific gene (5). Subsequent discoveries of genetic defects that reduce the effectiveness of TH through altered cell membrane transport (6, 7) and metabolism (8) have broadened the definition of TH hyposensitivity to encompass all defects that can interfere with the biological activity of a chemically intact hormone secreted in normal or even excessive amounts. In this chapter, we have retained the acronym RTH to denote the syndrome produced by reduced intracellular action of the active TH, triiodothyronine (T). However, with the identification of mutations in the () gene (9), RTH syndromes are designated as RTHα and RTHß. The term of impaired sensitivity to TH (ISTH) has been therefore proposed (10-12) to denote altered effectiveness of TH in a broader sense. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.
甲状腺激素抵抗（RTH）是一种靶组织对甲状腺激素（TH）反应性降低的综合征，于1967年被发现（1）。早期报告提出了多种机制，包括TH转运、代谢和作用缺陷（2）。然而，随着1989年（）基因突变的发现（3,4），术语RTH成为了这种特定基因缺陷的同义词（5）。随后发现通过改变细胞膜转运（6,7）和代谢（8）来降低TH有效性的遗传缺陷，拓宽了TH低敏感性的定义，以涵盖所有可能干扰正常分泌甚至过量分泌的化学完整激素生物活性的缺陷。在本章中，我们保留了首字母缩略词RTH来表示由活性TH三碘甲状腺原氨酸（T）细胞内作用降低所产生的综合征。然而，随着（）基因突变的发现（9），RTH综合征被指定为RTHα和RTHß。因此，有人提出了TH敏感性受损（ISTH）这一术语（10 - 12），以更广泛地表示TH有效性的改变。欲全面涵盖内分泌学的所有相关领域，请访问我们的在线免费网络文本，WWW.ENDOTEXT.ORG。
