Wakasaki Hisao, Matsumoto Miyuki, Tamaki Shinya, Miyata Kaori, Yamamoto Shohei, Minaga Takamasa, Hayashi Yoshitaka, Komukai Kenichi, Imanishi Toshio, Yamaoka Hiroyuki, Matsuno Shohei, Nishi Masahiro, Akamizu Takashi
Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan.
Intern Med. 2016;55(22):3295-3299. doi: 10.2169/internalmedicine.55.7147. Epub 2016 Nov 15.
Resistance to thyroid hormone (RTH) is a genetic disorder characterized by reduced tissue responsiveness to thyroid hormone. We herein describe a 60-year old man who presented with the clinical features of cardiomyopathy, diabetes mellitus and elevated thyroid hormones with unsuppressed thyroid stimulating hormone. A genetic analysis of thyroid hormone receptor (TR) revealed a missense mutation (A268D) in the TRβ gene. Clinical manifestations of RTH may be variable due to different tissue distributions of TR subtypes and different actions of mutant receptors. The current case demonstrates that patients with a TRβ mutation may have impaired his glucose metabolism and a reduced cardiac function, although patients appear clinically euthyroid.
甲状腺激素抵抗（RTH）是一种遗传性疾病，其特征是组织对甲状腺激素的反应性降低。我们在此描述一名60岁男性，他表现出心肌病、糖尿病的临床特征，甲状腺激素升高且促甲状腺激素未被抑制。对甲状腺激素受体（TR）的基因分析显示TRβ基因存在错义突变（A268D）。由于TR亚型的组织分布不同以及突变受体的作用不同，RTH的临床表现可能会有所变化。目前的病例表明，尽管患者临床甲状腺功能正常，但TRβ突变患者可能存在糖代谢受损和心功能降低的情况。
