A Perplexing Case of a DUOX2 Mutation and Graves’ Disease

  • Li Yuan Nanjing University of Traditional Chinese Medicine
  • Hongping Sun Nanjing University of Traditional Chinese Medicine
  • Xue Yang Nanjing University of Traditional Chinese Medicine
  • Mingxue Zhang Nanjing University of Traditional Chinese Medicine
  • Guofang Chen Nanjing University of Traditional Chinese Medicine
DOI: https://doi.org/10.18686/aem.v12i1.320
Keywords: Graves’ Disease, DUOX2 Mutations, Thyroid Hormone Resistance Syndrome

Abstract

It is commonly accepted that DUOX2 mutations may cause congenital hypothyroidism and thyrotropin resistance, thus its combination with Graves' disease would be unusual. In this case, our patient's serum thyroid function tests suggested a high probability of thyroid hormone resistance syndrome, but genetic testing did not suggest gene mutations of THRα or THRβ. This is a rare case report of thyroid hormone resistance.

References

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Published
2023-03-21
Issue
Vol 12, No 1(2023)
Section
Original Research Article

Copyright (c) 2023 Li Yuan

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