{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T16:10:43Z","timestamp":1792080643717,"version":"4.4.0"},"reference-count":28,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Metab Res"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Resistance to thyroid hormone syndrome (RTHS) is defined as increased thyroxine\n                    and triiodothyronine associated with normal or increased thyrotropin. This is\n                    usually due to a pathogenic variant of the gene coding for thyroid hormone\n                    receptor B (THRB). THRB is a rare genetic disorder characterized by an altered\n                    response of target tissue to the thyroid hormone action. Retrospective\n                    cross-sectional observational study with diagnosis of RTHS evaluated in\n                    secondary and tertiary hospitals for 6 years, from 2014 to 2020, in order to\n                    describe variables including age, sex, anthropometric data, clinical and\n                    biochemical characteristics of patients, who were divided according to age, in a\n                    pediatric group from 0 to 14 years (index cases), and an adult group composed of\n                    adult relatives of index cases. A molecular analysis of the THRB gene was\n                    performed. The total retrospective cohort included 7 pediatric patients and 15\n                    adults. We found 22 cases with a clear male predominance (14\/22). Mean\n                    age is 24.8 years old (22 days-70 years). Patients were referred because of\n                    symptoms 18.2% (4\/22), analysis results 22.7%\n                    (5\/22), or familial study 59.1% (13\/22). About\n                    31.8% (7\/22) cases show goiter, 31.8% (7\/22)\n                    sympathetic symptoms and 13.6% (3\/22) abnormalities in behavior.\n                    In most cases, 77.3%, (17\/22) show familial background of\n                    thyroid abnormalities. It is important to remark that 18.2%\n                    (4\/22) relatives received previous incorrect treatments such as\n                    thyroidectomy, because of wrong diagnosis. In conclusion, a better understanding\n                    of RTHS, its prompt molecular diagnosis and genetic counseling, could avoid\n                    unnecessary tests and inappropriate treatments.<\/jats:p>","DOI":"10.1055\/a-1725-8533","type":"journal-article","created":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T23:42:18Z","timestamp":1644277338000},"page":"67-75","source":"Crossref","is-referenced-by-count":4,"title":["Thyroid Hormone Resistance: Multicentrical Case Series\n                    Study"],"prefix":"10.1055","volume":"54","author":[{"given":"Maria Angeles","family":"Santos Mata","sequence":"additional","affiliation":[{"name":"Hospital Maternoinfantil de Jerez, Cadiz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0585-0886","authenticated-orcid":false,"given":"Ana Belen","family":"Ariza Jimenez","sequence":"additional","affiliation":[{"name":"Hospital Universitario Reina Sof\u00eda, C\u00f3rdoba,\n                    Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Macias Lopez","sequence":"additional","affiliation":[{"name":"Hospital Maternoinfantil de Jerez, Cadiz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"de la Camara Mora\u00f1o","sequence":"additional","affiliation":[{"name":"Hospital Universitario Reina Sof\u00eda, C\u00f3rdoba,\n                    Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2022,2,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1210\/jc.2013-3393","article-title":"Classification and proposed nomenclature for transport, and metabolism","volume":"99","author":"S Refetoff","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1067\/S0022-3476(03)00184-7","article-title":"Follow-up of newborns 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