A Perplexing Case of a DUOX2 Mutation and Graves’ Disease

Li Yuan, Hongping Sun, Xue Yang, Mingxue Zhang, Guofang Chen


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.


Graves’ Disease; DUOX2 Mutations; Thyroid Hormone Resistance Syndrome

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DOI: http://dx.doi.org/10.18686/aem.v12i1.320


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