{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T01:55:29Z","timestamp":1792029329970,"version":"4.4.0"},"reference-count":25,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002842","name":"Chiang Mai University","doi-asserted-by":"publisher","award":["132-66"],"award-info":[{"award-number":["132-66"]}],"id":[{"id":"10.13039\/501100002842","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014895","name":"Southwest Medical University","doi-asserted-by":"publisher","award":["0903-00031063"],"award-info":[{"award-number":["0903-00031063"]}],"id":[{"id":"10.13039\/501100014895","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Elevated concentrations of T3 and T4 concomitant with nonsuppressed TSH are found in both TSH-producing tumors and resistance to thyroid hormone beta (RTH\u03b2), posing a diagnostic challenge. We demonstrate here a 54-year-old female who presented with palpitations, goiter, and elevated free T4 with nonsuppressed TSH concentrations (TSH 2.2 mIU\/L [normal range, NR 0.27-4.2 mIU\/L] and FT4 59.08 pmol\/L [NR 12.0-22.0 pmol\/L]). Because magnetic resonance imaging revealed a pituitary microadenoma (4 mm), she was diagnosed with TSH-secreting pituitary adenoma and underwent transsphenoidal surgery. Pathological reports showed no tumor cells. Subsequent genetic testing revealed a pathogenic variant in the THRB gene resulting in a His435Arg amino acid substitution in the T3 receptor isoform beta 1 (TR\u03b21), suggestive of RTH\u03b2. In vitro and ex vivo studies revealed that the His435Arg mutated TR\u03b21 (TR\u03b21-H435R) completely abolishes the T3-induced transcriptional activation, nuclear receptor corepressor 1 release, steroid receptor coactivator 1 recruitment, and T3-induced thyroid hormone target gene expression, confirming the pathogenicity of this variant. The identification of a pituitary microadenoma in a patient with RTH\u03b2 led to a misdiagnosis of a TSH-producing tumor and unnecessary surgery. Genetic testing proved pivotal for an accurate diagnosis, suggesting earlier consideration in similar clinical scenarios.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae140","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T19:54:59Z","timestamp":1722542099000},"source":"Crossref","is-referenced-by-count":2,"title":["Resistance to Thyroid Hormone Beta Due to <i>THRB<\/i> Mutation in a Patient Misdiagnosed With TSH-Secreting Pituitary Adenoma"],"prefix":"10.1210","volume":"2","author":[{"given":"Wenjun","family":"Liao","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC , 3015 CN, Rotterdam , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nipawan","family":"Waisayanand","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine, Chiang Mai University , Chiang Mai, 50200 , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanda","family":"Fanhchaksai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Chiang Mai University , Chiang Mai, 50200 , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5248-863X","authenticated-orcid":false,"given":"W Edward","family":"Visser","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC , 3015 CN, Rotterdam , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5392-0519","authenticated-orcid":false,"given":"Marcel E","family":"Meima","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC , 3015 CN, Rotterdam , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3277-994X","authenticated-orcid":false,"given":"Karn","family":"Wejaphikul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Chiang Mai University , Chiang Mai, 50200 , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,8,1]]},"reference":[{"key":"2024081401414038800_luae140-B1","doi-asserted-by":"crossref","first-page":"656551","DOI":"10.3389\/fendo.2021.656551","article-title":"Resistance to thyroid hormone beta: a focused review","volume":"12","author":"Pappa","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2024081401414038800_luae140-B2","doi-asserted-by":"crossref","first-page":"432","DOI":"10.3389\/fendo.2020.00432","article-title":"The differential diagnosis of discrepant thyroid function tests: insistent pitfalls and updated flow-chart 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