{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T09:53:02Z","timestamp":1781862782348,"version":"3.54.5"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T00:00:00Z","timestamp":1781827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T00:00:00Z","timestamp":1781827200000},"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\/s12020-026-04680-x","type":"journal-article","created":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T09:18:09Z","timestamp":1781860689000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and laboratory characteristics of pediatric patients diagnosed with thyroid hormone resistance: A single-center experience"],"prefix":"10.1007","volume":"91","author":[{"given":"Bar\u0131\u015f","family":"Kolba\u015f\u0131","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edip","family":"Unal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"Durak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ak\u00e7ahan","family":"Akal\u0131n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahsin","family":"Gider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruken","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eervan","family":"\u00d6zalkak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amine Aktar","family":"Karakaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asl\u0131","family":"Be\u015fta\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,19]]},"reference":[{"key":"4680_CR1","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1210\/jcem-27-2-279","volume":"27","author":"S Refetoff","year":"1967","unstructured":"S. Refetoff, L.T. DeWind, L.J. DeGroot, Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J. Clin. Endocrinol. Metab. 27, 279\u2013294 (1967)","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"4680_CR2","first-page":"55","volume":"111","author":"L Persani","year":"2019","unstructured":"L. Persani, I. Campi, Syndromes of Resistance to Thyroid Hormone Action. Exp. Suppl. 111, 55\u201384 (2019)","journal-title":"Exp. Suppl."},{"key":"4680_CR3","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1067\/S0022-3476(03)00184-7","volume":"143","author":"SH LaFranchi","year":"2003","unstructured":"S.H. LaFranchi, D.B. Snyder, D.E. Sesser et al., Follow-up of newborns with elevated screening T4 concentrations. J. Pediatr. 143, 296\u2013301 (2003)","journal-title":"J. Pediatr."},{"key":"4680_CR4","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/j.ando.2019.06.005","volume":"80","author":"X Dieu","year":"2019","unstructured":"X. Dieu, G. Sueur, V. Moal et al., Apparent resistance to thyroid hormones: From biological interference to genetics. Ann. Endocrinol. (Paris). 80, 280\u2013285 (2019)","journal-title":"Ann. Endocrinol. (Paris)"},{"key":"4680_CR5","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1210\/edrv-14-3-348","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, 348\u2013399 (1993). https:\/\/doi.org\/10.1210\/edrv-14-3-348","journal-title":"Endocr. Rev."},{"key":"4680_CR6","doi-asserted-by":"publisher","first-page":"3189","DOI":"10.1210\/jc.2009-2179","volume":"95","author":"MS Barkoff","year":"2010","unstructured":"M.S. Barkoff, M. Kocherginsky, J. Anselmo et al., Autoimmunity in patients with resistance to thyroid hormone. J. Clin. Endocrinol. Metab. 95, 3189\u20133193 (2010)","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"4680_CR7","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."},{"key":"4680_CR8","doi-asserted-by":"crossref","unstructured":"J. Bernal, Sindromes de resistencia a las hormonas tiroideas. Endocrinol y Nutr. 2011; 58: 185\u2013196.Available from: http:\/\/www.elsevier.es\/es\/linksolver\/ft\/pii\/S1575092211000702","DOI":"10.1016\/j.endonu.2011.02.001"},{"key":"4680_CR9","doi-asserted-by":"publisher","first-page":"102250","DOI":"10.1016\/j.nicl.2020.102250","volume":"26","author":"J Uter","year":"2020","unstructured":"J. Uter, M. Heldmann, B. Rogge et al., Patients with mutations of the thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study. NeuroImage Clin. 26, 102250 (2020)","journal-title":"NeuroImage Clin."},{"key":"4680_CR10","doi-asserted-by":"publisher","first-page":"1328","DOI":"10.1210\/jc.2011-2642","volume":"97","author":"AM Ferrara","year":"2012","unstructured":"A.M. Ferrara, K. Onigata, O. Ercan et al., Homozygous thyroid hormone receptor \u03b2-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J. Clin. Endocrinol. Metab. 97, 1328\u20131336 (2012)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"2","key":"4680_CR11","doi-asserted-by":"publisher","first-page":"182","DOI":"10.4274\/jcrpe.4526","volume":"9","author":"K Demir","year":"2017","unstructured":"K. Demir, S. \u00d6zen, E. Konak\u00e7\u0131, M. Ayd\u0131n, F. Darendeliler, A Comprehensive Online Calculator for Pediatric Endocrinologists: \u00c7EDD \u00c7\u00f6z\u00fcm\/TPEDS Metrics. J. Clin. Res. Pediatr. Endocrinol. 9(2), 182\u2013184 (2017). https:\/\/doi.org\/10.4274\/jcrpe.4526","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"issue":"2","key":"4680_CR12","first-page":"125","volume":"7","author":"S \u015eeker","year":"2010","unstructured":"S. \u015eeker, Determination of thyroid volume and its relation with isthmus thickness. Eur. J. Gen. Med. 7(2), 125\u2013129 (2010)","journal-title":"Eur. J. Gen. Med."},{"key":"4680_CR13","unstructured":"Recommended, normative values for thyroid volume in children aged 6\u201315 years. World Health Organization & International Council for Control of Iodine Deficiency Disorders. Bull World Health Organ, 1997; 75(2): 95\u201397"},{"key":"4680_CR14","volume-title":"A radiographic standard of reference for the growing hand and wrist","author":"WW Greulich","year":"1971","unstructured":"W.W. Greulich, S.I. Pyle, A.M. Waterhouse, A radiographic standard of reference for the growing hand and wrist (Case Western Reserve University, Chicago), 1971)"},{"issue":"3","key":"4680_CR15","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1007\/s12020-018-1673-6","volume":"62","author":"LS Ramos","year":"2018","unstructured":"L.S. Ramos, M.M.L. Kizys, I.S. Kunii, A.M. Spinola-Castro, S. Nesi-Fran\u00e7a, R.A. Guerra, C.P. Camacho, J.R.M. Martins, R.M.B. Maciel, M.R. Dias-da-Silva, M.I. Chiamolera, Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center. Endocrine. 62(3), 628\u2013638 (2018). https:\/\/doi.org\/10.1007\/s12020-018-1673-6","journal-title":"Endocrine"},{"issue":"2","key":"4680_CR16","first-page":"191","volume":"17","author":"G B\u00fcy\u00fcky\u0131lmaz","year":"2025","unstructured":"G. B\u00fcy\u00fcky\u0131lmaz, B. \u00c7avdarl\u0131, S.B. Koca, K. Toksoy Ad\u0131g\u00fczel, O. Topalo\u011flu, C. Ayd\u0131n, S. Hepsen, E. \u00c7akal, N. Semerci G\u00fcnd\u00fcz, M. Boyraz, F. G\u00fcrb\u00fcz, H. Demirbilek, Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta. J. Clin. Res. Pediatr. Endocrinol. 17(2), 191\u2013201 (2025).","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"4680_CR17","doi-asserted-by":"publisher","unstructured":"M.A. Santos Mata, A.B. Ariza Jimenez, F. de la Macias Lopez, Camara Mora\u00f1o C. Thyroid Hormone Resistance: Multicentrical Case Series Study. Horm Metab Res. 2022;54(2):67\u201375. 10.1055\/a-1725-8533. Epub 2022 Feb 7. Erratum in: Horm Metab Res. 2022;54(2):e1. https:\/\/doi.org\/10.1055\/a-1769-7396","DOI":"10.1055\/a-1769-7396"},{"issue":"8","key":"4680_CR18","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1007\/s40618-019-1007-4","volume":"42","author":"A Vela","year":"2019","unstructured":"A. Vela, G. P\u00e9rez-Nanclares, I. R\u00edos, I. Rica, N. Portillo, L. Casta\u00f1o, Spanish Group for the Study of RTH, Thyroid hormone resistance from newborns to adults: a Spanish experience. J. Endocrinol. Invest. 42(8), 941\u2013949 (2019). https:\/\/doi.org\/10.1007\/s40618-019-1007-4","journal-title":"J. Endocrinol. Invest."},{"issue":"8","key":"4680_CR19","doi-asserted-by":"publisher","first-page":"572","DOI":"10.7326\/0003-4819-123-8-199510150-00002","volume":"123","author":"F Brucker-Davis","year":"1995","unstructured":"F. Brucker-Davis, M.C. Skarulis, M.B. Grace, J. Benichou, P. Hauser, E. Wiggs, B.D. Weintraub, Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study. Ann. Intern. Med. 123(8), 572\u2013583 (1995)","journal-title":"Ann. Intern. Med."},{"key":"4680_CR20","unstructured":"A.M. Dumitrescu, S. Refetoff, Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action. ed. by L. J. De Groot, G. Chrousos, K. Dungan, K.R. Feingold, A. Grossman, J.M. Hershman, C. Koch, M. Korbonits, R. McLachlan, M. New, J. Purnell, R. Rebar, F. Singer, A. Vinik (Endotext. South Dartmouth (MA), 2000)"},{"issue":"1","key":"4680_CR21","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1086\/380999","volume":"74","author":"AM Dumitrescu","year":"2004","unstructured":"A.M. Dumitrescu, X.H. Liao, T.B. Best, K. Brockmann, S. Refetoff, A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am. J. Hum. Genet. 74(1), 168\u2013175 (2004). https:\/\/doi.org\/10.1086\/380999","journal-title":"Am. J. Hum. Genet."},{"key":"4680_CR22","doi-asserted-by":"publisher","unstructured":"T.O. Olateju, M.P. Vanderpump, Thyroid hormone resistance. Ann Clin Biochem. 2006;43(Pt 6):431\u2009\u2013\u200940. https:\/\/doi.org\/10.1258\/000456306778904678","DOI":"10.1258\/000456306778904678"},{"key":"4680_CR23","doi-asserted-by":"publisher","first-page":"656551","DOI":"10.3389\/fendo.2021.656551","volume":"12","author":"T Pappa","year":"2021","unstructured":"T. Pappa, S. Refetoff, Resistance to Thyroid Hormone Beta: A Focused Review. Front. Endocrinol. (Lausanne). 12, 656551 (2021). https:\/\/doi.org\/10.3389\/fendo.2021.656551","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"4680_CR24","doi-asserted-by":"publisher","first-page":"1024","DOI":"10.1016\/j.mehy.2007.08.015","volume":"70","author":"C Gavin","year":"2008","unstructured":"C. Gavin, H. Meggison, T.C. Ooi, Proposing a causal link between thyroid hormone resistance and primary autoimmune hypothyroidism. Med. Hypotheses. 70, 1024\u20131028 (2008). Epub 2007 Oct 4","journal-title":"Med. Hypotheses"},{"key":"4680_CR25","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/s40842-017-0046-z","volume":"3","author":"BK Singh","year":"2017","unstructured":"B.K. Singh, P.M. Yen, A clinician\u2019s guide to understanding resistance to thyroid hormone due to receptor mutations in the TR\u03b1 and TR\u03b2 isoforms. Clin. Diabetes Endocrinol. 3, 8 (2017). https:\/\/doi.org\/10.1186\/s40842-017-0046-z","journal-title":"Clin. Diabetes Endocrinol."},{"key":"4680_CR26","doi-asserted-by":"publisher","unstructured":"Ishii, Sumiyasu & Onigata, Kazumichi & Sasaki, Shigekazu & Takamatsu, Junta & Tagami,Tetsuya & Takeda, Kyoko & Taniyama, Matsuo & Nishihara, Eijun & Hayashi, Yoshitaka& Hishinuma, Akira & Fukata, Shuji & Murata, Yoshiharu & Yamada, Masanobu. (2025).Treatment of Syndrome of Resistance to Thyroid Hormone Beta: 2023 Consensus Statements from the Japan Thyroid Association. Thyroid Science. 2. 100025. https:\/\/doi.org\/10.1016\/j.thscie.2025.100025","DOI":"10.1016\/j.thscie.2025.100025"},{"key":"4680_CR27","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1210\/jcem.87.1.8170","volume":"87","author":"GJ Kahaly","year":"2002","unstructured":"G.J. Kahaly, C.H. Matthews, C.H. Matthews, S. Mohr-Kahaly, C.A. Richards, V.K.K. Chatterjee, Cardiac involvement in thyroid hormone resistance. J. Clin. Endocrinol. Metab. 87, 204\u2013212 (2002)","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"4680_CR28","doi-asserted-by":"publisher","unstructured":"S. Refetoff, A.M. Dumitrescu, Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007;21(2):277\u2013305. https:\/\/doi.org\/10.1016\/j.beem.2007.03.005","DOI":"10.1016\/j.beem.2007.03.005"},{"issue":"2","key":"4680_CR29","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1507\/endocrj.EJ21-0390","volume":"69","author":"K Ohba","year":"2022","unstructured":"K. Ohba, S. Sasaki, H. Misawa Nakamura, A. Matsushita, G. Kuroda, Y. Sakai, H. Nakamura, Clinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan. Endocr. J. 69(2), 179\u2013188 (2022). https:\/\/doi.org\/10.1507\/endocrj.EJ21-0390","journal-title":"Endocr. J."},{"issue":"4","key":"4680_CR30","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1038\/nrd2830","volume":"8","author":"JD Baxter","year":"2009","unstructured":"JD. Baxter, P. Webb, Thyroid hormone mimetics: potential applications in atherosclerosis, obesity and type 2 diabetes. Nat. Rev. Drug Discov. 8(4), 308\u2013320 (2009). https:\/\/doi.org\/10.1038\/nrd2830.","journal-title":"Nat. Rev. Drug Discov"},{"issue":"9","key":"4680_CR31","doi-asserted-by":"publisher","first-page":"990","DOI":"10.1089\/thy.2025.0245","volume":"35","author":"MET Freund","year":"2025","unstructured":"M.E.T. Freund, van der F. Most, S. Groeneweg, van F.S. Geest, W.E. Visser, Thyroid Hormone Analogs: Recent Developments. Thyroid. 35(9), 990\u20131002 (2025). https:\/\/doi.org\/10.1089\/thy.2025.0245","journal-title":"Thyroid"},{"key":"4680_CR32","doi-asserted-by":"crossref","unstructured":"S. Rodolfi, G. Rurale, F. Marelli et al., Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders. Nutrients. 2025","DOI":"10.3390\/nu17132053"},{"key":"4680_CR33","doi-asserted-by":"publisher","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. 2024 https:\/\/doi.org\/10.1530\/ETJ-24-0125","DOI":"10.1530\/ETJ-24-0125"},{"issue":"10","key":"4680_CR34","doi-asserted-by":"publisher","first-page":"3609","DOI":"10.1210\/jcem.85.10.6873","volume":"85","author":"S Reutrakul","year":"2000","unstructured":"S. Reutrakul, P.M. Sadow, S. Pannain, J. Pohlenz, G.A. Carvalho, P.E. Macchia, R.E. Weiss, S. Refetoff, Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J. Clin. Endocrinol. Metab. 85(10), 3609\u20133617 (2000). https:\/\/doi.org\/10.1210\/jcem.85.10.6873","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"4680_CR35","doi-asserted-by":"publisher","first-page":"361304","DOI":"10.4061\/2011\/361304","volume":"2011","author":"MD Rosen","year":"2011","unstructured":"M.D. Rosen, M.L. Privalsky, Thyroid hormone receptor mutations in cancer and resistance to thyroid hormone: perspective and prognosis. J. Thyroid Res. 2011, 361304 (2011). https:\/\/doi.org\/10.4061\/2011\/361304","journal-title":"J. Thyroid Res."}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-026-04680-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-026-04680-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-026-04680-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T09:18:15Z","timestamp":1781860695000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-026-04680-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,19]]},"references-count":35,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4680"],"URL":"https:\/\/doi.org\/10.1007\/s12020-026-04680-x","relation":{},"ISSN":["1559-0100"],"issn-type":[{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,19]]},"assertion":[{"value":"1 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 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 study was conducted following approval from the Dicle University Faculty of Medicine Non-Interventional Clinical Research Ethics Committee (approval number: 17-01-2024\/32).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}],"article-number":"210"}}