WANG Huangman, SHAN Zhongyan, TENG Xiaochun. The Syndromes of Resistance to Thyroid Hormone Beta[J]. Journal of Rare Diseases, 2023, 2(3): 331-336. DOI: 10.12376/j.issn.2097-0501.2023.03.003
Citation: WANG Huangman, SHAN Zhongyan, TENG Xiaochun. The Syndromes of Resistance to Thyroid Hormone Beta[J]. Journal of Rare Diseases, 2023, 2(3): 331-336. DOI: 10.12376/j.issn.2097-0501.2023.03.003
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The Syndromes of Resistance to Thyroid Hormone Beta

  • Department of Endocrinology and Metabolism, Key Laboratory of Diagnosis and Treatment of Thyroid Diseases of National Health Commission, the First Affiliated Hospital of China Medical University, Shenyang 110001, China

Funds: 

National Natural Science Foundation of China 82270831

National Natural Science Foundation of China 81970681

More Information
  • Corresponding author:

    TENG Xiaochun, E-mail: tengxiaochun@126.com

  • Received Date: June 14, 2023
  • Accepted Date: June 24, 2023
2097-0501/©2023 Editorial Office of Journal of Rare Diseases This is an open access article under the CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/)
    Graphical Abstract
    • Abstract

  • The syndrome of resistance to thyroid hormone(RTH) is a rare syndrome caused by the mutation of thyroid hormone receptor (TR) gene, which reduces the sensitivity of target organs to thyroid hormone (TH) and leads to the dysfunction of TH. Thyroid hormone resistance syndrome β (RTHβ) is caused by the mutations in the THRB gene. The main characteristics of RTHβ are increased thyroxine (T4) in the circulating blood, normal or elevated levels of triiodothyronine(T3), paired with normal or high thyroid-stimulating hormone (TSH) concentration. Clinically, it is easy to misdiagnose RTHβ as hyperthyroidism, and give anti-thyroid drugs, radioactive 131I therapy or surgery, which then leads to the aggravation of TH resistance, so the correct diagnosis of the disease is critical. In this paper, the molecular mechanism, clinical characteristics, diagnosis and treatment of RTHβ are summarized.

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    • References (41)
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