A Perplexing Case of a DUOX2 Mutation and Graves’ Disease

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

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.


Keywords


Graves’ Disease; DUOX2 Mutations; Thyroid Hormone Resistance Syndrome

Full Text:

PDF

References


Refetoff S, Dewind L T, Degroot L J. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone[J]. J Clin Endocrinol Metab. 1967, 27(2): 279-294.

Sakurai A, Takeda K, Ain K, et al. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta[J]. Proc Natl Acad Sci U S A. 1989, 86(22): 8977-8981.

Bochukova E, Schoenmakers N, Agostini M, et al. A mutation in the thyroid hormone receptor alpha gene[J]. N Engl J Med. 2012, 366(3): 243-249.

Weiss RE, Hayashi Y, Nagaya T, et al. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor[J]. J Clin Endocrinol Metab. 1996, 81(12): 4196-4203.

Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone[J]. Biochim Biophys Acta. 2013, 1830(7): 3987-4003.

Sato H. Clinical features of primary hyperthyroidism caused by Graves' disease admixed with resistance to thyroid hormone (P453T)[J]. Endocr J. 2010, 57(8): 687-692.

Kostopoulou E, Miliordos K, Spiliotis B. Genetics of primary congenital hypothyroidism-a review[J]. Hormones (Athens). 2021, 20(2): 225-236.

Carvalho DP, Dupuy C. Role of the NADPH Oxidases DUOX and NOX4 in thyroid oxidative stress[J]. Eur Thyroid J. 2013, 2(3): 160-167.




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

Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.