title: Resistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation.
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.
authors.affiliation: Department of Endocrinology and Diabetology, Hidaka General Hospital, Japan.
authors.forename: Hisao
authors.initials: H
authors.lastname: Wakasaki
authors.forename: Miyuki
authors.initials: M
authors.lastname: Matsumoto
authors.forename: Shinya
authors.initials: S
authors.lastname: Tamaki
authors.forename: Kaori
authors.initials: K
authors.lastname: Miyata
authors.forename: Shohei
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Takamasa
authors.initials: T
authors.lastname: Minaga
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Kenichi
authors.initials: K
authors.lastname: Komukai
authors.forename: Toshio
authors.initials: T
authors.lastname: Imanishi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Yamaoka
authors.forename: Shohei
authors.initials: S
authors.lastname: Matsuno
authors.forename: Masahiro
authors.initials: M
authors.lastname: Nishi
authors.forename: Takashi
authors.initials: T
authors.lastname: Akamizu
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000150:complications*; D058065:Diabetic Cardiomyopathies / Q000150:complications*; D006333:Heart Failure / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011988:Receptors, Thyroid Hormone / Q000097:blood; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000150:complications* / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood
chemical_list: D011988:Receptors, Thyroid Hormone; D037042:Thyroid Hormone Receptors beta; D013972:Thyrotropin