Wolff, Fleur; Department of Clinical Chemistry, Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB), Université Libre de Bruxelles (ULB), Brussels, Belgium
Fery, Françoise; Department of Endocrinology, Centre Hospitalier Interrégional Edith Cavell (CHIREC), Brussels, Belgium
Désir, Julie; Human Genetics Center, Institute of Pathology and Genetics, Gosselies, Belgium
Gadisseur, Romy ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale
Cavalier, Etienne ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale
Cotton, Frédéric; Department of Clinical Chemistry, Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB), Université Libre de Bruxelles (ULB), Brussels, Belgium
Language :
English
Title :
Familial dysalbuminemic hyperthyroxinemia coexisting with a Grave's disease: a Belgian case report.
Mimoto, MS, Refetoff, S. Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest 2020;43:31-41. https://doi.org/10.1007/s40618-019-01084-9.
Berger, HR, Creech, MK, Hannoush, Z, Watanabe, Y, Kargi, A, Weiss, RE. A novel mutation causing complete thyroid binding globulin deficiency (TBG-CD MIA) in a male with coexisting Graves disease. AACE Clin Case Rep 2017;3:e134-9. https://doi.org/10.4158/ep161421.cr.
Pappa, T, Ferrara, AM, Refetoff, S. Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metabol 2015;29:735-47. https://doi.org/10.1016/j.beem.2015.09.002.
Li, Y, Chi, Y, Chai, X, Liu, H, Li, N, Lian, X. Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report. BMC Endocr Disord 2023;23:226. https://doi.org/10.1186/s12902-023-01481-5.
Khoo, S, Lyons, G, Solomon, A, Oddy, S, Halsall, D, Chatterjee, K, et al.. Familial dysalbuminemic hyperthyroxinemia confounding management of coexistent autoimmune thyroid disease. Diabetes Metab Case Rep 2020;2020:1-5. https://doi.org/10.1530/edm-19-0161.
Kragh-Hansen, U, Galliano, M, Minchiotti, L. Clinical, genetic, and protein structural aspects of familial dysalbuminemic hyperthyroxinemia and hypertriiodothyroninemia. Front Endocrinol (Lausanne) 2017;8:297. https://doi.org/10.3389/fendo.2017.00297.
Külz, M, Fellner, S, Rocktäschel, J, Ceglarek, U, Willenberg, A, Kratzsch, J. Dubiously increased FT4 and FT3 levels in clinically euthyroid patients: clinical finding or analytical pitfall? Clin Chem Lab Med 2022;60:877-85. https://doi.org/10.1515/cclm-2021-1211.
Dieu, X, Bouzamondo, N, Briet, C, Illouz, F, Moal, V, Boux de Casson, F, et al.. Familial dysalbuminemic hyperthyroxinemia: an underdiagnosed entity. J Clin Med 2020;9:2105. https://doi.org/10.3390/jcm9072105.
Cartwright, D, O'Shea, P, Rajanayagam, O, Agostini, M, Barker, P, Moran, C, et al.. Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. Clin Chem 2009;55:1044-6. https://doi.org/10.1373/clinchem.2008.120303.
Westbye, AB, Aas, FE, Dahl, SR, Zykova, SN, Kelp, O, Dahll, LK, et al.. Large method differences for free thyroid hormone assays in the hyperthyroid range can affect assessment of hyperthyroid status: comparison of Abbott Alinity to Roche Cobas, Siemens Centaur and equilibrium dialysis LC-MS/MS. Clin Biochem 2023;121-122:110676. https://doi.org/10.1016/j.clinbiochem.2023.110676.
