Okada Yosuke
   Department   School of Medicine  Internal Medicine(1), Clinical Medical Sciences
Article types case reports
Language English
Peer review Non peer reviewed
Title A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations.
Journal Formal name:Journal of UOEH
Abbreviation:J UOEH
ISSN code:0387821X/0387821X
Domestic / ForeginForegin
Volume, Issue, Page 38(4),291-296頁
Author and coauthor Kurozumi Akira, Okada Yosuke, Arao Tadashi, Tanaka Yoshiya
Publication date 2016/12
Summary 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