Bernal Juan
Instituto de Investigaciones Biomédicas, CSIC-UAM y CIBER de enfermedades raras, Madrid, España.
Endocrinol Nutr. 2011 Apr;58(4):185-96. doi: 10.1016/j.endonu.2011.02.001. Epub 2011 Apr 3.
Thyroid hormone resistance syndromes are a group of genetic conditions characterized by decreased tissue sensitivity to thyroid hormones. Three syndromes, in which resistance to hormone action is respectively due to mutations in the gene encoding for thyroid hormone receptor TRβ, impaired T4 and T3 transport, and impaired conversion of T4 to T3 mediated by deiodinases. An updated review of each of these forms of resistance is provided, and their pathogenetic mechanisms and clinical approaches are discussed.
甲状腺激素抵抗综合征是一组遗传性疾病,其特征是组织对甲状腺激素的敏感性降低。有三种综合征,其中激素作用抵抗分别归因于编码甲状腺激素受体TRβ的基因突变、T4和T3转运受损以及由脱碘酶介导的T4向T3转化受损。本文对这些抵抗形式分别进行了更新综述,并讨论了其发病机制和临床处理方法。