Syndromes of Resistance to Thyroid Hormone

Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI:10.1093/med/9780198870197.003.0071

C. Moran, M. Gurnell, K. Chatterjee

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Abstract

Disorders of cellular uptake, metabolism, or action of thyroid hormones comprise syndromes of resistance to thyroid hormone. Reduced entry of thyroid hormones into the central nervous system via a membrane transporter mediates severe mental and psychomotor retardation associated with peripheral hyperthyroidism. Failure of selenocysteine incorporation into 25 different proteins results in a multisystem, selenoprotein deficiency, disorder associated with abnormal thyroid function due to impaired activity of deiodinase selenoenzymes. Resistance to Thyroid Hormone β‎, due to thyroid hormone β‎ receptor mutations, is characterized by elevated circulating thyroid hormones, impaired feedback inhibition of thyroid-stimulating hormone (TSH) secretion and variable hormone resistance in peripheral tissues. Thyroid hormone receptor α‎ defects cause resistance to thyroid hormone α‎, characterized by features of hypothyroidism in specific tissues but paradoxically associated with near-normal thyroid hormone levels. We describe the genetic basis, clinical features, pathogenesis, and management of these disorders.

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甲状腺激素抵抗综合征

甲状腺激素的细胞摄取、代谢或作用紊乱包括甲状腺激素抵抗综合征。甲状腺激素通过膜转运体进入中枢神经系统的减少介导与周围性甲状腺功能亢进相关的严重精神和精神运动迟缓。硒半胱氨酸与25种不同蛋白质结合失败导致多系统硒蛋白缺乏，由于去碘酶硒酶活性受损而导致甲状腺功能异常。由于甲状腺激素β β受体突变，对甲状腺激素β β的抵抗以循环甲状腺激素升高、促甲状腺激素(TSH)分泌反馈抑制受损和外周组织可变激素抵抗为特征。甲状腺激素受体α′缺陷引起对甲状腺激素α′的抵抗，在特定组织中表现为甲状腺功能减退，但与接近正常的甲状腺激素水平矛盾地相关。我们描述这些疾病的遗传基础、临床特征、发病机制和管理。

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Oxford Textbook of Endocrinology and Diabetes 3e

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