Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation
| Autor: | Shohei Matsuno, Masahiro Nishi, Shinya Tamaki, Toshio Imanishi, Hisao Wakasaki, Miyuki Matsumoto, Hiroyuki Yamaoka, Yoshitaka Hayashi, Takamasa Minaga, Kaori Miyata, Kenichi Komukai, Takashi Akamizu, Shohei Yamamoto |
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| Rok vydání: | 2016 |
| Předmět: |
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 |
| Zdroj: | Internal Medicine. 55:3295-3299 |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.55.7147 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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