オカダ ヨウスケ   Okada Yosuke
  岡田 洋右
   所属   医学部医学科  臨床医学系 第1内科学
   職種   准教授
論文種別 症例報告
言語種別 英語
査読の有無 査読なし
表題 A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations.
掲載誌名 正式名:Journal of UOEH
略  称:J UOEH
ISSNコード:0387821X/0387821X
掲載区分国外
巻・号・頁 38(4),291-296頁
著者・共著者 Kurozumi Akira, Okada Yosuke, Arao Tadashi, Tanaka Yoshiya
発行年月 2016/12
概要 Approximately 140 different mutations of thyroid hormone receptor β (TRβ) have been identified in resistance to thyroid hormone (RTH). We report herein a middle-aged man with a negative family history who was diagnosed with RTH based on persistent palpitations. Genetic analysis showed a TRβ mutation causing the substitution of alanine for proline 453 (P453A) in exon 10. Since treatment of RTH is different from that of Graves' disease and thyroid stimulating hormone-producing adenoma (TSHoma), a genetic analysis should be performed even in patients who have a negative family history of RTH and who are free of TSHoma when they present with persistent inappropriate secretion of thyroid stimulating hormone (SITSH).
DOI 10.7888/juoeh.38.291
PMID 27980311