{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T01:55:30Z","timestamp":1792029330554,"version":"4.4.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,1,1]]},"abstract":"<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>Resistance to thyroid hormone beta (RTH\u03b2) is an inherited syndrome caused by mutations in the thyroid hormone receptor \u03b2 (<jats:italic>THRB<\/jats:italic>) gene. Patients with RTH\u03b2 typically have elevated thyroid hormone levels with non-suppressed serum thyroid-stimulating hormone (TSH). We aimed to elucidate the clinical, laboratory, and imaging findings of RTH\u03b2 patients and further to explore their association with <jats:italic>THRB<\/jats:italic> gene mutations.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Design and methods<\/jats:title>\n<jats:p>We retrospectively reviewed the clinical charts and compared the clinical findings of 68 RTH\u03b2 patients (45 probands and 23 relatives) and 30 unaffected relatives in Kuma Hospital.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Genetic testing revealed 35 heterozygous <jats:italic>THRB<\/jats:italic> gene mutations. Among all RTH\u03b2 patients, autoimmune thyroid disease (AITD) was detected in 42.1% of men and 40.9% of women, showing that the prevalence of AITD in affected males was significantly higher than in unaffected relatives (<jats:italic>P<\/jats:italic>\u2009\u2009=\u20090.019). During the follow-up of 44 patients, 13 patients (29.5%; 8 (42.1%) with AITD and 5 (20%) without AITD) temporarily showed thyroid function test results inconsistent with RTH\u03b2. Two patients with the R383H mutation, which has little dominant-negative effect, temporarily showed normal thyroid hormone and TSH levels without AITD.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The frequency of AITD in male RTH\u03b2 patients was significantly higher compared to unaffected relatives. More than 20% of RTH\u03b2 patients temporarily showed laboratory findings atypical of RTH\u03b2 during their follow-up, and patients with AITD and specific <jats:italic>THRB<\/jats:italic> mutations were prone to display such findings. Therefore, genetic testing should be performed even for patients with fluctuations in thyroid function test results to avoid misdiagnosis and inappropriate treatment.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-21-0584","type":"journal-article","created":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T17:11:30Z","timestamp":1635873090000},"page":"73-82","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":8,"title":["Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone"],"prefix":"10.1093","volume":"186","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0116-8599","authenticated-orcid":true,"given":"Mikiko","family":"Okazaki-Hada","sequence":"first","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1786-0077","authenticated-orcid":true,"given":"Eijun","family":"Nishihara","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mako","family":"Hisakado","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takumi","family":"Kudo","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuru","family":"Ito","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuji","family":"Fukata","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsushige","family":"Nishikawa","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Akamizu","sequence":"additional","affiliation":[{"name":"1Department of Internal Medicine, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Miyauchi","sequence":"additional","affiliation":[{"name":"2Department of Surgery, Center for Excellence in Thyroid Care, Kuma Hospital, Chuo-ku, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/186\/1\/EJE-21-0584.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/186\/1\/EJE-21-0584.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:16:53Z","timestamp":1676391413000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/186\/1\/73\/6852966"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,1]]},"references-count":0,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.1530\/eje-21-0584","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,1]]}}}