Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation

Hisao Wakasaki; Miyuki Matsumoto; Shinya Tamaki; Kaori Miyata; Shohei Yamamoto; Takamasa Minaga; Yoshitaka Hayashi; Kenichi Komukai; Toshio Imanishi; Hiroyuki Yamaoka; Shohei Matsuno; Masahiro Nishi; Takashi Akamizu

doi:10.2169/internalmedicine.55.7147

CASE REPORTS

Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation

Hisao Wakasaki, Miyuki Matsumoto, Shinya Tamaki, Kaori Miyata, Shohei Yamamoto, Takamasa Minaga, Yoshitaka Hayashi, Kenichi Komukai, Toshio Imanishi, Hiroyuki Yamaoka, Shohei Matsuno, Masahiro Nishi, Takashi Akamizu

Author information

Hisao Wakasaki
Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan
Miyuki Matsumoto
Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan
Shinya Tamaki
Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan
Kaori Miyata
Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan
Shohei Yamamoto
Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan
Takamasa Minaga
Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan
Yoshitaka Hayashi
Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan
Kenichi Komukai
Department of Cardiology, Hidaka General Hospital, Japan
Toshio Imanishi
Department of Cardiology, Hidaka General Hospital, Japan
Hiroyuki Yamaoka
The first Department of Medicine, Wakayama Medical University, Japan
Shohei Matsuno
The first Department of Medicine, Wakayama Medical University, Japan
Masahiro Nishi
The first Department of Medicine, Wakayama Medical University, Japan
Takashi Akamizu
The first Department of Medicine, Wakayama Medical University, Japan

Keywords: resistance to thyroid hormone, cardiomyopathy, diabetes mellitus, thyroid hormone receptor beta

JOURNAL OPEN ACCESS

2016 Volume 55 Issue 22 Pages 3295-3299

DOI https://doi.org/10.2169/internalmedicine.55.7147

Details

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.

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