1. Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation
- Author
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Shohei Matsuno, Masahiro Nishi, Shinya Tamaki, Toshio Imanishi, Hisao Wakasaki, Miyuki Matsumoto, Hiroyuki Yamaoka, Yoshitaka Hayashi, Takamasa Minaga, Kaori Miyata, Kenichi Komukai, Takashi Akamizu, and Shohei Yamamoto
- Subjects
0301 basic medicine ,endocrine system ,medicine.medical_specialty ,Thyroid hormone receptor ,endocrine system diseases ,business.industry ,Thyroid ,030209 endocrinology & metabolism ,General Medicine ,Thyroid hormone receptor beta ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Endocrinology ,medicine.anatomical_structure ,Thyroid-stimulating hormone ,Internal medicine ,Internal Medicine ,Medicine ,Missense mutation ,Euthyroid ,business ,Receptor ,Hormone - Abstract
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.
- Published
- 2016
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