{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T10:20:43Z","timestamp":1780395643094,"version":"3.54.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"DOI":"10.1007\/s12020-026-04685-6","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T09:50:02Z","timestamp":1780393802000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Lingual thyroid and resistance to thyroid hormone beta due to a novel THRB c.1312\u00a0C\u2009>\u2009T mutation in a child: diagnostic pitfalls and management"],"prefix":"10.1007","volume":"91","author":[{"given":"Mohammad Hosny","family":"Awad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nandu","family":"Thalange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed El","family":"Abiary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,2]]},"reference":[{"issue":"3","key":"4685_CR1","first-page":"348","volume":"14","author":"S Refetoff","year":"1993","unstructured":"S. Refetoff, R.E. Weiss, S.J. Usala, The syndromes of resistance to thyroid hormone. Endocr. Rev. 14(3), 348\u2013399 (1993)","journal-title":"Endocr. Rev."},{"key":"4685_CR2","doi-asserted-by":"publisher","first-page":"111679","DOI":"10.1016\/j.mce.2022.111679","volume":"553","author":"B Yao","year":"2022","unstructured":"B. Yao, C. Yang, C. Pan, Y. Li, Thyroid hormone resistance: mechanisms and therapeutic development. Mol. Cell. Endocrinol. 553, 111679 (2022)","journal-title":"Mol. Cell. Endocrinol."},{"issue":"Suppl 1","key":"4685_CR3","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1016\/j.ijsu.2014.05.076","volume":"12","author":"G Guerra","year":"2014","unstructured":"G. Guerra, M. Cinelli, M. Mesolella et al., Morphological, diagnostic and surgical features of ectopic thyroid gland: a review of literature. Int. J. Surg. 12(Suppl 1), S3\u201311 (2014)","journal-title":"Int. J. Surg."},{"issue":"8","key":"4685_CR4","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1089\/thy.2009.0389","volume":"20","author":"Y Nakajima","year":"2010","unstructured":"Y. Nakajima, M. Yamada, K. Horiguchi et al., Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor. Thyroid. 20(8), 917\u2013926 (2010)","journal-title":"Thyroid"},{"issue":"3","key":"4685_CR5","doi-asserted-by":"publisher","first-page":"e817","DOI":"10.1542\/peds.2011-0634","volume":"129","author":"N Heather","year":"2012","unstructured":"N. Heather, K. Hall, K. Neas, H. Potter, E. Wiltshire, Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland. Pediatrics. 129(3), e817\u2013e820 (2012)","journal-title":"Pediatrics"},{"issue":"6","key":"4685_CR6","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1590\/2359-3997000000214","volume":"60","author":"ML Guo","year":"2016","unstructured":"M.L. Guo, X. Zheng, L.X. Yang et al., Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up. Arch. Endocrinol. Metab. 60(6), 601\u2013604 (2016)","journal-title":"Arch. Endocrinol. Metab."},{"issue":"7","key":"4685_CR7","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1089\/thy.2005.15.730","volume":"15","author":"H Grasberger","year":"2005","unstructured":"H. Grasberger, U. Ringkananont, M. Croxson, S. Refetoff, Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid. 15(7), 730\u2013733 (2005)","journal-title":"Thyroid"},{"key":"4685_CR8","doi-asserted-by":"publisher","first-page":"1064279","DOI":"10.3389\/fgene.2022.1014323","volume":"13","author":"Y Fang","year":"2022","unstructured":"Y. Fang, T. Liu, H. Hou et al., Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma: two case reports of a thyroid hormone receptor beta gene mutation and a literature review. Front. Genet. 13, 1064279 (2022)","journal-title":"Front. Genet."},{"key":"4685_CR9","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1007\/978-1-4939-7902-8_18","volume":"1801","author":"T Pappa","year":"2018","unstructured":"T. Pappa, S. Refetoff, Human genetics of thyroid hormone receptor beta resistance to thyroid hormone beta (RTH\u03b2). Methods Mol. Biol. 1801, 225\u2013240 (2018)","journal-title":"Methods Mol. Biol."},{"issue":"4","key":"4685_CR10","doi-asserted-by":"publisher","first-page":"e240125","DOI":"10.1530\/ETJ-24-0125","volume":"13","author":"L Persani","year":"2024","unstructured":"L. Persani, P. Rodien, C. Moran et al., 2024 European Thyroid Association guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Eur. Thyroid J. 13(4), e240125 (2024)","journal-title":"Eur. Thyroid J."},{"issue":"3","key":"4685_CR11","first-page":"135","volume":"23","author":"M Toumba","year":"2019","unstructured":"M. Toumba, V. Neocleous, P. Fanis, G.A. Tanteles, M. Kyriakidou-Himonas, M. Picolos, Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene. Hippokratia. 23(3), 135\u2013139 (2019)","journal-title":"Hippokratia"},{"key":"4685_CR12","first-page":"NCC31","volume":"74","author":"AA Khan","year":"2021","unstructured":"A.A. Khan, S. Westal, S. Bujawansa et al., Resistance to thyroid hormone receptor-beta: diagnostic pitfalls. Endocr. Abstr. 74, NCC31 (2021)","journal-title":"Endocr. Abstr"},{"key":"4685_CR13","doi-asserted-by":"publisher","unstructured":"A. Alkundi, R.O. Momoh, Thyroid Hormone Resistance Diagnosis in an Octogenarian-A Case Report. https:\/\/doi.org\/10.14310\/horm.2002.1700","DOI":"10.14310\/horm.2002.1700"},{"issue":"12","key":"4685_CR14","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1055\/s-0035-1545305","volume":"47","author":"AM Esquiaveto-Aun","year":"2015","unstructured":"A.M. Esquiaveto-Aun, D.E. Zantut-Wittmann, R.J. Petroli et al., Two novel mutations in the thyroid hormone receptor beta in patients with resistance to thyroid hormone: clinical, biochemical, and molecular data. Horm. Metab. Res. 47(12), 889\u2013894 (2015)","journal-title":"Horm. Metab. Res."},{"issue":"2","key":"4685_CR15","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1016\/0006-291X(91)90151-V","volume":"178","author":"CV Boothroyd","year":"1991","unstructured":"C.V. Boothroyd, B.T. Teh, N.K. Hayward, P.E. Hickman, G.J. Ward, D.P. Cameron, Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis. Biochem. Biophys. Res. Commun. 178(2), 606\u2013612 (1991)","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"4685_CR16","doi-asserted-by":"publisher","first-page":"112585","DOI":"10.1016\/j.mce.2025.112585","volume":"606","author":"G Rehman","year":"2025","unstructured":"G. Rehman, A.K. Srivastav, S. Rizvi, A. Chhabra, R.K. Tyagi, Disease-associated SNP variants of THR\u03b2: insights into the molecular determinants of aberrant receptor function. Mol. Cell. Endocrinol. 606, 112585 (2025)","journal-title":"Mol. Cell. Endocrinol."}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-026-04685-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-026-04685-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-026-04685-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T09:50:04Z","timestamp":1780393804000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-026-04685-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,2]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4685"],"URL":"https:\/\/doi.org\/10.1007\/s12020-026-04685-6","relation":{},"ISSN":["1559-0100"],"issn-type":[{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,2]]},"assertion":[{"value":"25 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}],"article-number":"197"}}