{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T14:39:18Z","timestamp":1720276758458},"reference-count":12,"publisher":"FapUNIFESP (SciELO)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>Reduced sensitivity to thyroid hormones (RSTH) is a rare disease that affects about 3,000 individuals, belonging to about 1,000 families. It results from reduced intracellular action of thyroid hormones (TH) genetically determined and manifests as persistent hyperthyroxinemia with non-suppressed thyroid-stimulating hormone (TSH). We describe a 67-years old, Caucasian woman, with past history of subtotal thyroidectomy due to diffuse goiter, who presents with a recurrence of goiter. Although she is clinically euthyroid, laboratory evaluation shows persistent hyperthyroxinemia with non-suppressed TSH. Response to thyrotropin releasing hormone (TRH) test was normal and TSH concentrations were not suppressed during oral administration of suprafisiologic doses of levothyroxine (L-T4). Peripheral blood DNA was extracted from the patient and a mutation was found localized in cluster one, at codon 346 of the ligand binding domain of the THRB gene. The patient\u2019s son underwent thyroid function testing (TFT) and genetic study, both negative, suggesting a sporadic mutation. RSTH should be considered in all hyperthyroxinemic patients who are clinically euthyroid. Mutations interfering with three major steps required for TH action on target tissues have been, so far, identified (TR-\u03b2, TR-\u03b1, MCT8, SPB2). Each mutation is associated with a distinctive syndrome. Goal of management is to maintain a normal serum TSH level and a eumetabolic state and offer appropriate genetic counselling and prenatal diagnosis. Inappropriate treatment of eumetabolic patients results in hypothyroidism and need for TH replacement.<\/jats:p>","DOI":"10.1590\/0004-2730000003297","type":"journal-article","created":{"date-parts":[[2015,1,21]],"date-time":"2015-01-21T22:05:07Z","timestamp":1421877907000},"page":"962-966","source":"Crossref","is-referenced-by-count":5,"title":["A case of thyroid hormone resistance: a rare mutation"],"prefix":"10.1590","volume":"58","author":[{"given":"Ana Pires","family":"Gon\u00e7alves","sequence":"first","affiliation":[{"name":"Centro Hospitalar Lisboa Norte,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Maria","family":"Arag\u00fc\u00e9s","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Lisboa Norte,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ema","family":"Nobre","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Lisboa Norte,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Paula","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Lisboa Norte,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Mascarenhas","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Lisboa Norte,  Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"issue":"7","key":"ref1","doi-asserted-by":"crossref","first-page":"3987","DOI":"10.1016\/j.bbagen.2012.08.005","article-title":"The syndromes of reduced sensitivity to thyroid hormone","volume":"1830","author":"Dumitrescu AM","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"ref2","series-title":"Hot thyroidology","author":"Dumitrescu AM"},{"issue":"2","key":"ref3","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.beem.2007.03.005","article-title":"Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination","volume":"21","author":"Refetoff S","year":"2007","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"ref4","series-title":"Thyroid disease manager"},{"issue":"3-4","key":"ref5","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.mcp.2009.02.002","article-title":"Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene","volume":"23","author":"Rivolta CM","year":"2009","journal-title":"Mol Cell Probes"},{"key":"ref6","series-title":"Hot Thyroidology","volume-title":"Resistance to thyroid hormone (RTH) in the absence of abnormal thyroid hormone receptor (TR) (non TR- RTH)","author":"Weiss RE"},{"issue":"15","key":"ref7","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1056\/NEJMc1113940","article-title":"Clinical phenotype and mutant TR\u03b11","volume":"366","author":"van Mullem A","year":"2012","journal-title":"N Engl J Med"},{"issue":"3","key":"ref8","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1056\/NEJMoa1110296","article-title":"A mutation in the thyroid hormone receptor alpha gene","volume":"366","author":"Bochukova E","year":"2012","journal-title":"N Engl J Med"},{"issue":"5","key":"ref9","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1210\/jc.2005-2428","article-title":"A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone","volume":"91","author":"Wu SY","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"ref10","first-page":"83","article-title":"Thyroid hormone resistance syndrome","volume":"48","author":"Carvalho GA","year":"2004","journal-title":"Arq Bras Endocrinol Metab"},{"issue":"2","key":"ref11","first-page":"401","article-title":"Editorial: Treatment of resistance to thyroid hormone \u2013 Primum Non Nocere","volume":"84","author":"Weiss R","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"ref12","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1097\/MOP.0b013e328305e428","article-title":"Case report: thyroid hormone resistance and its therapeutic challenges","volume":"20","author":"Kim TJ","year":"2008","journal-title":"Curr Opin Pediatr"}],"container-title":["Arquivos Brasileiros de Endocrinologia &amp; Metabologia"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/abem\/v58n9\/0004-2730-abem-58-9-0962.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,27]],"date-time":"2017-05-27T23:34:33Z","timestamp":1495928073000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-27302014000900962&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":12,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["S0004-27302014000900962"],"URL":"https:\/\/doi.org\/10.1590\/0004-2730000003297","relation":{},"ISSN":["0004-2730"],"issn-type":[{"value":"0004-2730","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12]]}}}