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Updated: Mar 10, 2026

Author Spotlight: Integrating Ultrasound Imaging with Biochemical Markers for Thyroid Disease Diagnosis
Published on: February 9, 2024
A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent
Akira Kurozumi1, Yosuke Okada, Tadashi Arao
1First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.
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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