Fu Jiao, Dumitrescu Alexandra M
Department of Medicine, University of Chicago Medical Center, 5841 S. Maryland Avenue MC3090, Room M369, Chicago, IL 60637, USA; Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University School of Medicine, Xi'an 710061, People's Republic of China.
Department of Medicine, University of Chicago Medical Center, 5841 S. Maryland Avenue MC3090, Room M369, Chicago, IL 60637, USA.
Best Pract Res Clin Endocrinol Metab. 2014 Mar;28(2):189-201. doi: 10.1016/j.beem.2013.05.014. Epub 2013 Jul 9.
The description of two novel human defects in the last ten years has uncovered new aspects of thyroid hormone physiology with regard to cell-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.
在过去十年中，对两种新型人类缺陷的描述揭示了甲状腺激素生理学在细胞膜转运和细胞内代谢方面的新情况。X连锁单羧酸转运蛋白8（MCT8）基因突变导致男性出现无效的神经发育表型，以及具有高T3、低反T3、低或低正常T4以及正常或略高促甲状腺激素（TSH）的特征性甲状腺功能检查结果。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，这取决于缺陷的严重程度及其对硒蛋白层级的影响。最具特征性的是血清T3低、T4高、反T3高以及TSH水平略有升高的甲状腺表型。在此，我们回顾了所有已知的MCT8和SBP2缺乏病例，并从临床、生化、遗传和治疗等方面描述了每种疾病。
