{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:09:41Z","timestamp":1787022581631,"version":"build-2736575974"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"1-2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Here we report the case of a young girl who had vague signs and symptoms potentially attributable to hyperthyroidism and was found to have autoimmune thyroiditis and hyperthyroxinemia. The elevated serum free thyroxine levels were persistent when measured by both standard assays and equilibrium dialysis\/high-pressure liquid chromatography-tandem mass spectrometry. The clinical symptoms, with discordant thyroid test results, created a diagnostic dilemma that led initially to unnecessary additional evaluations. She was ultimately found to have familial dysalbuminemic hyperthyroxinemia (FDH) and required no therapy. This case highlights the inherent difficulties in evaluating children, who typically have vague signs and symptoms of thyroid dysfunction, when, in addition, they have an unrelated acquired (autoimmune) as well as a genetic (FDH) defect. The benefit of including testing for immediate members of the family is emphasized.<\/jats:p>","DOI":"10.1515\/jpem-2014-0019","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T13:03:50Z","timestamp":1407243830000},"source":"Crossref","is-referenced-by-count":9,"title":["Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading"],"prefix":"10.1515","volume":"28","author":[{"given":"Abha","family":"Choudhary","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chutintorn","family":"Sriphrapradang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Refetoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoltan","family":"Antal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref41","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1089\/105072504322880409","article-title":"Artifactually elevated serum - free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia","volume":"14","author":"Hoshikawa","year":"2004","journal-title":"Thyroid"},{"key":"ref31","first-page":"218","article-title":"Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin shows an apparent discrepancy between serum concentration and affinity for thyroxine","author":"Pannain","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1089\/105072504322880409","article-title":"Artifactually elevated serum - free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia","volume":"14","author":"Hoshikawa","year":"2004","journal-title":"Thyroid"},{"key":"ref21","first-page":"306","article-title":"Familial dysalbuminemic hyperthyroxinemia : a syndrome that can be confused with thyrotoxicosis","author":"Ruiz","year":"1982","journal-title":"Engl J Med"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/S0140-6736(79)91080-8","article-title":"Raised total thyroxine and free thyroxine index but normal free thyroxine serum abnormality due to inherited increased affinity of iodothyronines for serum binding protein i","author":"Henneman","year":"1979","journal-title":"Lancet"},{"key":"ref81","first-page":"306","article-title":"Familial dysalbuminemic hyperthyroxinemia : a syndrome that can be confused with thyrotoxicosis","author":"Ruiz","year":"1982","journal-title":"Engl J Med"},{"key":"ref51","first-page":"291","article-title":"Laboratory diagnosis of multiple pituitary hormone deficiencies : issues with testing of the growth and thyroid axes","volume":"6","author":"Nakamoto","year":"2009","journal-title":"Rev"},{"key":"ref71","first-page":"49","article-title":"Inherited abnormal thyroid hormone - binding protein causing selective increase of total serum thyroxine","author":"Lee","year":"1979","journal-title":"J Clin Endocrinol Metab"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/S0140-6736(79)91080-8","article-title":"Raised total thyroxine and free thyroxine index but normal free thyroxine serum abnormality due to inherited increased affinity of iodothyronines for serum binding protein i","author":"Henneman","year":"1979","journal-title":"Lancet"},{"key":"ref11","first-page":"49","article-title":"Inherited abnormal thyroid hormone - binding protein causing selective increase of total serum thyroxine","author":"Lee","year":"1979","journal-title":"J Clin Endocrinol Metab"},{"key":"ref111","first-page":"291","article-title":"Laboratory diagnosis of multiple pituitary hormone deficiencies : issues with testing of the growth and thyroid axes","volume":"6","author":"Nakamoto","year":"2009","journal-title":"Rev"},{"key":"ref91","first-page":"218","article-title":"Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin shows an apparent discrepancy between serum concentration and affinity for thyroxine","author":"Pannain","year":"2000","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0019\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T21:37:03Z","timestamp":1619041023000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0019\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":12,"journal-issue":{"issue":"1-2"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0019","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}