Pappa Theodora, Refetoff Samuel
Department of Medicine, The University of Chicago, Chicago, IL, USA.
Department of Pediatrics, The University of Chicago, Chicago, IL, USA.
Methods Mol Biol. 2018;1801:225-240. doi: 10.1007/978-1-4939-7902-8_18.
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). Affected individuals have consistently high TH levels and non-suppressed thyrotropin in the absence of acute illness, drugs, or alterations in TH binding proteins. Depending on the tissue, features of TH excess and deficiency may coexist, although most individuals have a euthyroid, normal metabolic state at the expense of high TH levels. In most cases the disorder is associated with germline mutations in the THRB gene. In the last decades, advances in genetics have expanded our knowledge on the etiology and pathophysiology of the syndrome and have shed more light on the molecular mechanisms of TH action. This review provides an update on the genetics of RTHβ, summarizes the clinical and biochemical presentation of the syndrome, and describes the methodology used to diagnose and manage individuals with RTHβ.
甲状腺激素β抵抗（RTHβ）是一种以周围组织对甲状腺激素（TH）反应性降低为特征的综合征。在没有急性疾病、药物或甲状腺激素结合蛋白改变的情况下，受影响个体的甲状腺激素水平持续升高，促甲状腺素未被抑制。根据组织的不同，甲状腺激素过量和缺乏的特征可能同时存在，尽管大多数个体处于甲状腺功能正常、代谢状态正常，但代价是甲状腺激素水平升高。在大多数情况下，该疾病与THRB基因的种系突变有关。在过去几十年中，遗传学的进展扩展了我们对该综合征病因和病理生理学的认识，并使我们对甲状腺激素作用的分子机制有了更深入的了解。本综述提供了RTHβ遗传学的最新信息，总结了该综合征的临床和生化表现，并描述了用于诊断和管理RTHβ患者的方法。
