Inherited defects in thyroid hormone cell-membrane transport and metabolism.
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
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DOI：
10.1016/j.beem.2013.05.014
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发表时间：
2014-03
期刊：
影响因子：
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通讯作者：
Dumitrescu AM
中科院分区：
文献类型：
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作者：
Fu J;Dumitrescu AM
过去十年对两种新的人类缺陷的描述揭示了甲状腺激素生理学在细胞膜运输和细胞内代谢方面的新方面。 X 连锁单羧酸转运蛋白 8 (MCT8) 基因的突变会导致男性神经发育表型失效，并导致特征性甲状腺功能测试出现高 T3、低 rT3、低或低正常 T4 以及正常或稍高 TSH。硒代半胱氨酸插入序列结合蛋白 2 (SBP2) 基因的隐性突变呈现出可变的临床表型，具体取决于缺陷的严重程度及其对硒蛋白层次结构的影响。最有特征的是甲状腺表型低血清T3、高T4、高rT3和TSH水平轻度升高。在此，我们回顾了所有已知的 MCT8 和 SBP2 缺陷病例，并从临床、生化、遗传和治疗方面描述了每种疾病。
The description of two novel human defects in the last ten years has uncovered new aspects of thyroid hormone physiology with regard to cellular-membrane transport and intracellular metabolism. Mutations in the X-linked monocarboxylate transporter 8 (MCT8) gene result in an invalidating neurodevelopmental phenotype in males and pathognomonic thyroid functions tests with high T3, low rT3, low or low normal T4, and normal or slightly high TSH. Recessive mutations in the selenocysteine insertion sequence binding protein 2 (SBP2) gene present a variable clinical phenotype depending on the severity of the defect and its consequences on the selenoprotein hierarchy. Most characteristic is the thyroid phenotype of low serum T3, high T4, high rT3, and slightly elevated TSH levels. Herein we review all known cases of MCT8 and SBP2 deficiency and describe each disease in terms of the clinical, biochemical, genetic, and therapeutic aspects.