Two cases of discordant thyroid function tests: familial dysalbuminaemic hyperthyroxinaemia and dystransthyretinaemic hyperthyroxinaemia

Internal Medicine JournalVolume 53, Issue 1 p. 152-154 Letter to the Editor Two cases of discordant thyroid function tests: familial dysalbuminaemic hyperthyroxinaemia and dystransthyretinaemic hyperthyroxinaemia Bobby Li, Bobby Li orcid.org/0000-0002-9408-6129 Te Whatu Ora - Health New Zealand, Wellington, New Zealand Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this authorJordyn Moore, Jordyn Moore orcid.org/0000-0002-5629-6758 Te Whatu Ora - Health New Zealand, Wellington, New Zealand Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this authorHoward Potter, Howard Potter Te Whatu Ora - Health New Zealand, Wellington, New Zealand Molecular Pathology, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this authorStephen du Toit, Stephen du Toit Te Whatu Ora - Health New Zealand, Wellington, New Zealand Biochemistry, Waikato Hospital Laboratory, Hamilton, New ZealandSearch for more papers by this authorKingsley Nirmalaraj, Kingsley Nirmalaraj Te Whatu Ora - Health New Zealand, Wellington, New Zealand Department of Endocrinology, Tauranga Hospital, Tauranga, New ZealandSearch for more papers by this authorChris Florkowski, Chris Florkowski Te Whatu Ora - Health New Zealand, Wellington, New Zealand Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this author Bobby Li, Bobby Li orcid.org/0000-0002-9408-6129 Te Whatu Ora - Health New Zealand, Wellington, New Zealand Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this authorJordyn Moore, Jordyn Moore orcid.org/0000-0002-5629-6758 Te Whatu Ora - Health New Zealand, Wellington, New Zealand Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this authorHoward Potter, Howard Potter Te Whatu Ora - Health New Zealand, Wellington, New Zealand Molecular Pathology, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this authorStephen du Toit, Stephen du Toit Te Whatu Ora - Health New Zealand, Wellington, New Zealand Biochemistry, Waikato Hospital Laboratory, Hamilton, New ZealandSearch for more papers by this authorKingsley Nirmalaraj, Kingsley Nirmalaraj Te Whatu Ora - Health New Zealand, Wellington, New Zealand Department of Endocrinology, Tauranga Hospital, Tauranga, New ZealandSearch for more papers by this authorChris Florkowski, Chris Florkowski Te Whatu Ora - Health New Zealand, Wellington, New Zealand Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New ZealandSearch for more papers by this author First published: 24 January 2023 https://doi.org/10.1111/imj.15981Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1Koulouri O, Moran C, Halsall D, Chatterjee K, Gurnell M. Pitfalls in the measurement and interpretation of thyroid function tests. Best Pract Res Clin Endocrinol Metab 2013; 27: 745– 62. 2Spencer CA. Assay of thyroid hormones and related substances. In: KR Feingold, B Anawalt, A Boyce, G Chrousos, WW Herder, K Dhatariya et al., eds Endotext. South Dartmouth, MA: MDText.com, Inc Copyright © 2000–2022; 2000. 3Pappa T, Ferrara AM, Refetoff S. Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab 2015; 29: 735– 47. 4Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun 1994; 202: 781– 7. 5Scrimshaw BJ, Fellowes AP, Palmer BN, Croxson MS, Stockigt JR, George PM. A novel variant of transthyretin (prealbumin), Thr119 to Met, associated with increased thyroxine binding. Thyroid 1992; 2: 21– 6. 6Alves IL, Divino CM, Schussler GC, Altland K, Almeida MR, Palha JA et al. Thyroxine binding in a TTR Met 119 kindred. J Clin Endocrinol Metab 1993; 77: 484– 8. 7Ryan JB, Brennan SO, Potter H, Wolmarans L, Florkowski CM, George PM. Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis. Ann Clin Biochem 2016; 53: 504– 7. 8Jacobson DR, Alves IL, Saraiva MJ, Thibodeau SN, Buxbaum JN. Transthyretin Ser 6 gene frequency in individuals without amyloidosis. Hum Genet 1995; 95: 308– 12. 9Caridi G, Lugani F, Angeletti A, Campagnoli M, Galliano M, Minchiotti L. Variations in the human serum albumin gene: molecular and functional aspects. Int J Mol Sci 2022; 23: 1159. Volume53, Issue1January 2023Pages 152-154 ReferencesRelatedInformation