Journal of UOEH
Online ISSN : 2187-2864
Print ISSN : 0387-821X
ISSN-L : 0387-821X
A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations
Akira KUROZUMIYosuke OKADATadashi ARAOYoshiya TANAKA
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2016 Volume 38 Issue 4 Pages 291-296

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Abstract

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).

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© 2016 The University of Occupational and Environmental Health, Japan
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