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[Resistance to thyroid hormone]

Masanobu Yamada1

  • 1Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|December 13, 2006
PubMed

Insights

Resistance to thyroid hormone (RTH) is a rare genetic disorder caused by thyroid hormone receptor gene mutations. Misdiagnosis as Graves' disease is common, leading to inappropriate treatments. Early recognition of RTH is crucial for proper patient management.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Context:

  • Resistance to thyroid hormone (RTH) is a rare endocrine disorder characterized by reduced target tissue responsiveness to thyroid hormones.
  • Most RTH cases are linked to mutations in the thyroid hormone receptor beta (TRβ) gene.
  • Clinical presentation can mimic hyperthyroidism, leading to diagnostic challenges.

Purpose:

  • To highlight the importance of recognizing RTH, especially in patients with elevated thyroid hormone levels and normal or slightly increased TSH (SITSH).
  • To discuss the diagnostic challenges and potential misdiagnosis of RTH as Graves' disease.
  • To briefly mention therapeutic approaches like TRIAC.

Summary:

  • RTH involves impaired thyroid hormone action at the cellular level, despite normal or elevated circulating hormone levels.
  • Key diagnostic indicators include elevated serum thyroid hormone levels (T3, T4) with paradoxically normal or mildly elevated TSH.
  • Common misdiagnosis as Graves' disease occurs due to overlapping symptoms like tachycardia and goiter, affecting approximately one-third of patients.

Impact:

  • Improved diagnostic accuracy for RTH, reducing inappropriate treatments for conditions like Graves' disease.
  • Enhanced clinical awareness among healthcare providers encountering patients with unexplained thyroid hormone elevation.
  • Potential for earlier and more appropriate management strategies, including novel therapies like TRIAC.

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