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Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation
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 stim...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5173497/ https://www.ncbi.nlm.nih.gov/pubmed/27853072 |
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author | 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 |
author_facet | 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 |
author_sort | Wakasaki, Hisao |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5173497 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-51734972016-12-27 Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation 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 Intern Med Case Report 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. The Japanese Society of Internal Medicine 2016-11-15 /pmc/articles/PMC5173497/ /pubmed/27853072 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report 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 Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation |
title | Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation |
title_full | Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation |
title_fullStr | Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation |
title_full_unstemmed | Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation |
title_short | Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation |
title_sort | resistance to thyroid hormone complicated with type 2 diabetes and cardiomyopathy in a patient with a trβ mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5173497/ https://www.ncbi.nlm.nih.gov/pubmed/27853072 |
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