{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T20:48:11Z","timestamp":1740170891158,"version":"3.37.3"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"1-2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,23]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Clinicians may confuse an impaired sensitivity to thyroid hormone with hyperthyroidism and offer an inappropriate treatment. We report a diagnosis of resistance to thyroid hormone (RTH) caused by a rare mutation in the thyroid hormone receptor beta gene in a patient previously presumed to have Graves\u2019 disease. We have found only one published case of a novel point mutation, c.749T&amp;gt;C (p.Ile250Thr variant) associated with 50% reduction in thyroid hormone receptor binding affinity for triiodothyronine in the I250T mutant; it was found in this patient. A 66-year-old male veteran, with a history of non-ischemic cardiomyopathy and arrhythmias, was referred by a cardiologist with concerns for a possible thyrotropin (TSH) adenoma on account of elevated TSH and free thyroxine (FT4) levels. Pituitary imaging was negative. He was previously treated with radioiodine for presumptive Graves\u2019 disease in the civilian sector. Examination revealed a goiter with no nodules. Repeat TSH and FT4 levels were elevated and also free triiodothyronine (FT3) and reverse triiodothyronine. These findings and other test results were consistent with RTH, which was confirmed by genetic testing. Mutation analysis showed the patient to be heterozygous for the p.Ile250Thr variant. He later developed hypothyroidism. Resistance to thyroid hormone can be misdiagnosed as hyperthyroidism with consequent inappropriate treatment. Treatment is not needed in most RTH-beta patients. Thyroid ablation should generally be avoided. Clinicians must be cautious whenever they encounter concurrent elevation of TSH, FT4, and FT3. This RTH-beta patient has a rare I250T mutant of the thyroid hormone receptor beta gene, the second reported case in the literature.<\/jats:p>","DOI":"10.1093\/milmed\/usad283","type":"journal-article","created":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T18:10:37Z","timestamp":1690999837000},"page":"e439-e442","source":"Crossref","is-referenced-by-count":0,"title":["Diagnosis of\u00a0Resistance to Thyroid Hormone due to\u00a0a Rare Mutation in\u00a0the Thyroid Hormone Receptor Beta Gene in\u00a0a Patient Previously Presumed to Have Graves\u2019 Disease"],"prefix":"10.1093","volume":"189","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1475-6063","authenticated-orcid":false,"given":"Samuel T","family":"Olatunbosun","sequence":"first","affiliation":[{"name":"Uniformed Services University of the Health Sciences , USA"},{"name":"Endocrinology Department, David Grant USAF Medical Center , Travis AFB, CA 94535, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph K","family":"Kluesner","sequence":"additional","affiliation":[{"name":"Uniformed Services University of the Health Sciences , USA"},{"name":"Endocrinology Department, Wright-Patterson Air Force Base Medical Center , Wright-Patterson AFB, OH 45433, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip G","family":"Clerc","sequence":"additional","affiliation":[{"name":"Uniformed Services University of the Health Sciences , USA"},{"name":"Endocrinology Department, David Grant USAF Medical Center , Travis AFB, CA 94535, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shalvin S","family":"Prasad","sequence":"additional","affiliation":[{"name":"Uniformed Services University of the Health Sciences , USA"},{"name":"Medicine Department, David Grant USAF Medical Center , Travis AFB, CA 94535, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,8,2]]},"reference":[{"issue":"2","key":"2024012918212848600_R1","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1210\/jcem-27-2-279","article-title":"Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and\u00a0abnormally high PBI: possible target organ refractoriness to thyroid hormone","volume":"27","author":"Refetoff","year":"1967","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2024012918212848600_R2","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1159\/000358180","article-title":"Classification and\u00a0proposed nomenclature for\u00a0inherited defects of\u00a0thyroid hormone action, cell transport, and\u00a0metabolism","volume":"3","author":"Refetoff","year":"2014","journal-title":"Eur Thyroid J"},{"issue":"3","key":"2024012918212848600_R3","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1210\/edrv-14-3-348","article-title":"The syndromes of\u00a0resistance to thyroid hormone","volume":"14","author":"Refetoff","year":"1993","journal-title":"Endocr Rev"},{"issue":"2","key":"2024012918212848600_R4","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1016\/j.beem.2007.03.005","article-title":"Syndromes of\u00a0reduced sensitivity to thyroid hormone: genetic defects in\u00a0hormone receptors, cell transporters and\u00a0deiodination","volume":"21","author":"Refetoff","year":"2007","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"22","key":"2024012918212848600_R5","doi-asserted-by":"publisher","first-page":"8977","DOI":"10.1073\/pnas.86.22.8977","article-title":"Generalized resistance to thyroid hormone associated with a mutation in\u00a0the ligand-binding domain of\u00a0the human thyroid hormone receptor beta","volume":"86","author":"Sakurai","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"2024012918212848600_R6","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1172\/JCI114438","article-title":"A base mutation of\u00a0the C-erbA beta thyroid hormone receptor in\u00a0a kindred with generalized thyroid hormone resistance. 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