期刊
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA
卷 55, 期 1, 页码 60-66出版社
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
DOI: 10.1590/S0004-27302011000100008
关键词
-
MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevatedT3, low total and free T4, and mildly elevated TSH serum levels.Treatment with levothyroxine improved thyroid hormone profile but was not able to alter the clinical picture of the patient.These data reinforce the concept that the role of MCT8 is tissue-dependent: while neurons are highly dependent on MCT8, bone tissue, adipose tissue, muscle, and liver are less dependent on MCT8 and, therefore, may suffer the consequences of the exposition to high serum T3 levels. Arq Bras Endocrinol Metab. 2011;55(1).60-6
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据