{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:17:56Z","timestamp":1792513076370,"version":"4.5.0"},"reference-count":23,"publisher":"Bioscientifica","issue":"6","license":[{"start":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T00:00:00Z","timestamp":1781481600000},"content-version":"vor","delay-in-days":229,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["210755\/Z\/18\/Z"],"award-info":[{"award-number":["210755\/Z\/18\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,12,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Patients with resistance to thyroid hormone \u03b2 (RTH\u03b2) show elevated thyroid hormone concentrations with non-suppressed thyroid-stimulating hormone (TSH) concentrations and large phenotypic variability. Triac therapy has been successfully applied in some patients. Mosaic mutations causing mild RTH\u03b2 have been reported three times so far.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patient<\/jats:title>\n                    <jats:p>We present a case of severe RTH\u03b2 caused by a mosaic frameshift mutation in the thyroid hormone receptor \u03b2 (p.R438Lfs445X). Methimazole and Triac combination therapy was commenced at the age of 8 years, resulting in a substantial decrease in free T4 concentrations and an increase in TSH concentrations (follow-up duration of &amp;gt;18 months). His extreme agitation, motor restlessness, weight, and some motor and communication skills improved. The mutation was fully unresponsive to stimulation with T3 in in vitro and ex vivo analyses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The p.R438Lfs445X mutation leads to a severe phenotype of RTH\u03b2. Mosaicism might underlie a subset of patients with the clinical phenotype of RTH\u03b2. Combined methimazole\/Triac therapy had beneficial effects on several thyrotoxic features.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/etj-25-0092","type":"journal-article","created":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T11:24:08Z","timestamp":1761737048000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-17","source":"Crossref","is-referenced-by-count":2,"title":["Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation"],"prefix":"10.1530","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6960-5775","authenticated-orcid":true,"given":"Ferdy S","family":"van Geest","sequence":"first","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjun","family":"Liao","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul 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