{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:01:36Z","timestamp":1789178496497,"version":"build-2803163510"},"reference-count":47,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T00:00:00Z","timestamp":1678665600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["etj.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,3,13]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis, but it is unclear which patients would benefit most from the genetic investigation. We aimed to investigate the genetic etiology of transient CH (TCH) and permanent CH (PCH) in a well-characterized cohort, and thereby evaluate the impact of genetic testing on the management and prognosis of children with CH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A total of 48 CH patients with normal, goitrous (\n                      <jats:italic>n<\/jats:italic>\n                      5) or hypoplastic thyroid (\n                      <jats:italic>n<\/jats:italic>\n                      5) were studied by high-throughput sequencing using a custom-designed 23-gene panel. Patients initially categorized as TCH (\n                      <jats:italic>n<\/jats:italic>\n                      15), PCH (\n                      <jats:italic>n<\/jats:italic>\n                      26) and persistent hyperthyrotropinemia (PHT,\n                      <jats:italic>n<\/jats:italic>\n                      7) were re-evaluated after genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Re-evaluation based on genetic testing changed the initial diagnoses from PCH to PHT (\n                      <jats:italic>n<\/jats:italic>\n                      2) or TCH (\n                      <jats:italic>n<\/jats:italic>\n                      3) and from PHT to TCH (\n                      <jats:italic>n<\/jats:italic>\n                      5), which resulted in a final distribution of TCH (\n                      <jats:italic>n<\/jats:italic>\n                      23), PCH (\n                      <jats:italic>n<\/jats:italic>\n                      21) and PHT (\n                      <jats:italic>n<\/jats:italic>\n                      4). Genetic analysis also allowed us to discontinue treatment in five patients with monoallelic\n                      <jats:italic>TSHR<\/jats:italic>\n                      or\n                      <jats:italic>DUOX2<\/jats:italic>\n                      , or no pathogenic variants. The main reasons for changes in diagnosis and treatment were the detection of monoallelic\n                      <jats:italic>TSHR<\/jats:italic>\n                      variants and the misdiagnosis of thyroid hypoplasia on neonatal ultrasound in low birthweight infants. A total of 41 (35 different, 15 novel) variants were detected in 65% (\n                      <jats:italic>n<\/jats:italic>\n                      31) of the cohort. These variants, which most frequently affected\n                      <jats:italic>TG, TSHR<\/jats:italic>\n                      and\n                      <jats:italic>DUOX2<\/jats:italic>\n                      , explained the genetic etiology in 46% (\n                      <jats:italic>n<\/jats:italic>\n                      22) of the patients. The molecular diagnosis rate was significantly higher in patients with PCH (57%,\n                      <jats:italic>n<\/jats:italic>\n                      12) than TCH (26%,\n                      <jats:italic>n<\/jats:italic>\n                      6).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Genetic testing can change diagnosis and treatment decisions in a small proportion of children with CH, but the resulting benefit may outweigh the burden of lifelong follow-up and treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/etj-22-0212","type":"journal-article","created":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T13:04:12Z","timestamp":1678712652000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-16","source":"Crossref","is-referenced-by-count":14,"title":["Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism"],"prefix":"10.1530","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8989-560X","authenticated-orcid":true,"given":"Cengiz","family":"Kara","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey"},{"name":"Department of Pediatric Endocrinology, Faculty of Medicine, Istinye University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamala","family":"Mammadova","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Altinbas University Medicalpark Bah\u00e7elievler Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00dcmmet","family":"Abur","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey"},{"name":"Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8600-172X","authenticated-orcid":true,"given":"Cagri","family":"Gumuskaptan","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey"},{"name":"Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"\u0130zci G\u00fcll\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayhan","family":"Da\u011fdemir","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Ayd\u0131n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Best Practice and Research. Clinical Endocrinology and Metabolism","first-page":"175","article-title":"Screening for congenital hypothyroidism: a worldwide view of strategies","volume":"28","author":"Ford","year":"2014","unstructured":"Ford G & LaFranchi SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Practice and Research. Clinical Endocrinology and Metabolism201428175\u2013187. (https:\/\/doi.org\/10.1016\/j.beem.2013.05.008)"},{"key":"bib2","series-title":"Clinical Endocrinology","first-page":"739","article-title":"A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)","volume":"71","author":"Corbetta","year":"2009","unstructured":"Corbetta CWeber GCortinovis FCalebiro DPassoni AVigone MCBeck-Peccoz PChiumello G & Persani L. A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clinical Endocrinology200971739\u2013745. (https:\/\/doi.org\/10.1111\/j.1365-2265.2009.03568.x)"},{"key":"bib3","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"170","article-title":"Transient congenital hypothyroidism in Turkey: an analysis on frequency and natural course","volume":"8","author":"Kara","year":"2016","unstructured":"Kara CG\u00fcnindi FCan Y\u0131lmaz G &Ayd\u0131n M. Transient congenital hypothyroidism in Turkey: an analysis on frequency and natural course. Journal of Clinical Research in Pediatric Endocrinology20168170\u2013179. (https:\/\/doi.org\/10.4274\/jcrpe.2345)"},{"key":"bib4","series-title":"European Journal of Endocrinology","first-page":"R297","article-title":"Diagnosis of Endocrine Disease: congenital hypothyroidism: update and perspectives","volume":"179","author":"Peters","year":"2018","unstructured":"Peters Cvan Trotsenburg ASP & Schoenmakers N. Diagnosis of Endocrine Disease: congenital hypothyroidism: update and perspectives. European Journal of Endocrinology2018179R297\u2013R317. (https:\/\/doi.org\/10.1530\/EJE-18-0383)"},{"key":"bib5","series-title":"Thyroid","first-page":"292","article-title":"Long-term outcome of loss-of-function mutations in thyrotropin receptor gene","volume":"25","author":"Tenenbaum-Rakover","year":"2015","unstructured":"Tenenbaum-Rakover YAlmashanu SHess OAdmoni OMahameed H-DSchwartz NAllon-Shalev SBercovich D & Refetoff D. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid201525292\u2013299. (https:\/\/doi.org\/10.1089\/thy.2014.0311)"},{"key":"bib6","series-title":"Clinical Endocrinology","first-page":"587","article-title":"Mild TSH resistance: clinical and hormonal features in childhood and adulthood","volume":"87","author":"Vigone","year":"2017","unstructured":"Vigone MCDi Frenna MGuizzardi FGelmini Gde Filippis TMora SCaiulo SSonnino MBonomi MPersani L, Mild TSH resistance: clinical and hormonal features in childhood and adulthood. Clinical Endocrinology201787587\u2013596. (https:\/\/doi.org\/10.1111\/cen.13387)"},{"key":"bib7","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"4521","article-title":"Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ","volume":"101","author":"Nicholas","year":"2016","unstructured":"Nicholas AKSerra EGCangul HAlyaarubi SUllah ISchoenmakers EDeeb AHabeb AMAlmaghamsi MPeters C, Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. Journal of Clinical Endocrinology and Metabolism20161014521\u20134531. (https:\/\/doi.org\/10.1210\/jc.2016-1879)"},{"key":"bib8","series-title":"Human Molecular Genetics","first-page":"2507","article-title":"A frequent oligogenic involvement in congenital hypothyroidism","volume":"26","author":"de Filippis","year":"2017","unstructured":"de Filippis TGelmini GParaboschi EVigone MCDi Frenna MMarelli FBonomi MCassio ALarizza DMoro M, A frequent oligogenic involvement in congenital hypothyroidism. Human Molecular Genetics2017262507\u20132514. (https:\/\/doi.org\/10.1093\/hmg\/ddx145)"},{"key":"bib9","series-title":"European Journal of Endocrinology","first-page":"623","article-title":"The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes","volume":"178","author":"Sun","year":"2018","unstructured":"Sun FZhang JXYang CYGao GQZhu WBHan BZhang LLWan YYYe XPMa YR, The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. European Journal of Endocrinology2018178623\u2013633. (https:\/\/doi.org\/10.1530\/EJE-17-1017)"},{"key":"bib10","series-title":"Endocrine Journal","first-page":"1019","article-title":"Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism","volume":"65","author":"Long","year":"2018","unstructured":"Long WLu GZhou WYang YZhang BZhou HJiang L & Yu B. Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. Endocrine Journal2018651019\u20131028. (https:\/\/doi.org\/10.1507\/endocrj.EJ18-0156)"},{"key":"bib11","series-title":"Journal of Clinical Endocrinology and Metabolism","article-title":"Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening","volume":"105","author":"Yamaguchi","year":"2020","unstructured":"Yamaguchi TNakamura ANakayama KHishimura NMorikawa SIshizu K & Tajima T. Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening. Journal of Clinical Endocrinology and Metabolism2020105 dgaa308. (https:\/\/doi.org\/10.1210\/clinem\/dgaa308)"},{"key":"bib12","series-title":"Frontiers in Endocrinology","article-title":"High diagnostic yield of targeted next-generation sequencing in a cohort of patients with congenital hypothyroidism due to dyshormonogenesis","volume":"2021","author":"Stoupa","unstructured":"Stoupa AAl Hage Chehade GChaabane RKariyawasam DSzinnai GHanein SBole-Feysot CFourrage CNitschke PThalassinos C, High diagnostic yield of targeted next-generation sequencing in a cohort of patients with congenital hypothyroidism due to dyshormonogenesis. Frontiers in Endocrinology2021 545339. (https:\/\/doi.org\/10.3389\/fendo)"},{"key":"bib13","series-title":"Thyroid","first-page":"387","article-title":"Congenital hypothyroidism: a 2020\u20132021 consensus guidelines update-an endo-European reference network initiative endorsed by the European society for pediatric endocrinology and the European Society for Endocrinology","volume":"31","author":"van Trotsenburg","year":"2021","unstructured":"van Trotsenburg PStoupa AL\u00e9ger JRohrer TPeters CFugazzola LCassio AHeinrichs CBeauloye VPohlenz J, Congenital hypothyroidism: a 2020\u20132021 consensus guidelines update-an endo-European reference network initiative endorsed by the European society for pediatric endocrinology and the European Society for Endocrinology. Thyroid202131387\u2013419. (https:\/\/doi.org\/10.1089\/thy.2020.0333)"},{"key":"bib14","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"73","article-title":"Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey","volume":"2013","author":"Dilli","year":"2013","unstructured":"Dilli D\u00d6zba\u015f SAc\u0131can DYamak NErtek M & Dilmen U. Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey. Journal of Clinical Research in Pediatric Endocrinology2013201373\u201379. (https:\/\/doi.org\/10.4274\/Jcrpe.929)"},{"key":"bib15","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"187","article-title":"Neonatal thyroid-stimulating hormone screening as a monitoring tool for iodine deficiency in Turkey","volume":"8","author":"\u00c7aylan","year":"2016","unstructured":"\u00c7aylan NTezel B\u00d6zba\u015f S\u015eahin NAyd\u0131n \u015eAc\u0131can D & Keskink\u0131l\u0131\u00e7 B. Neonatal thyroid-stimulating hormone screening as a monitoring tool for iodine deficiency in Turkey. Journal of Clinical Research in Pediatric Endocrinology20168187\u2013191. (https:\/\/doi.org\/10.4274\/jcrpe.2526)"},{"key":"bib16","series-title":"Journal of Pediatrics","first-page":"643","article-title":"Definitive diagnosis in children with congenital hypothyroidism","volume":"144","author":"Eugster","year":"2004","unstructured":"Eugster EALeMay DZerin JM & Pescovitz OH. Definitive diagnosis in children with congenital hypothyroidism. Journal of Pediatrics2004144643\u2013647. (https:\/\/doi.org\/10.1016\/j.jpeds.2004.02.020)"},{"key":"bib17","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"1395","article-title":"Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation","volume":"98","author":"Rabbiosi","year":"2013","unstructured":"Rabbiosi SVigone MCCortinovis FZamproni IFugazzola LPersani LCorbetta CChiumello G & Weber G. Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. Journal of Clinical Endocrinology and Metabolism2013981395\u20131402. (https:\/\/doi.org\/10.1210\/jc.2012-3174)"},{"key":"bib18","series-title":"European Journal of Endocrinology","first-page":"R1","article-title":"Mechanisms in Endocrinology: the pathophysiology of transient congenital hypothyroidism","volume":"187","author":"Peters","year":"2022","unstructured":"Peters C & Schoenmakers N. Mechanisms in Endocrinology: the pathophysiology of transient congenital hypothyroidism. European Journal of Endocrinology2022187R1\u2013R16. (https:\/\/doi.org\/10.1530\/EJE-21-1278)"},{"key":"bib19","series-title":"Hormone Research in Paediatrics","first-page":"311","article-title":"Thyroglobulin gene mutations in congenital hypothyroidism","volume":"75","author":"Targovnik","year":"2011","unstructured":"Targovnik HMCitterio CE & Rivolta CM. Thyroglobulin gene mutations in congenital hypothyroidism. Hormone Research in Paediatrics201175311\u2013321. (https:\/\/doi.org\/10.1159\/000324882)"},{"key":"bib20","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"125","article-title":"New features for child metrics: further growth references and blood pressure calculations","volume":"12","author":"Demir","year":"2020","unstructured":"Demir KKonak\u00e7\u0131 E\u00d6zkaya GKasap Demir B\u00d6zen SAyd\u0131n M & Darendeliler F. New features for child metrics: further growth references and blood pressure calculations. Journal of Clinical Research in Pediatric Endocrinology202012125\u2013129. (https:\/\/doi.org\/10.4274\/jcrpe.galenos.2019.2019.0127)"},{"key":"bib21","series-title":"Journal of Maternal-Fetal and Neonatal Medicine","first-page":"120","article-title":"Reference intervals for thyrotropin and thyroid hormones and ultrasonographic thyroid volume during the neonatal period","volume":"25","author":"Mutlu","year":"2012","unstructured":"Mutlu MKarag\u00fczel GAl\u0131yazicio\u011flu YEy\u00fcpo\u011flu IOkten A & Aslan Y. Reference intervals for thyrotropin and thyroid hormones and ultrasonographic thyroid volume during the neonatal period. Journal of Maternal-Fetal and Neonatal Medicine201225120\u2013124. (https:\/\/doi.org\/10.3109\/14767058.2011.561894)"},{"key":"bib22","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"98","article-title":"Normative data of thyroid volume-ultrasonographic evaluation of 422 subjects aged 0\u201355 years","volume":"7","author":"Ayd\u0131ner","year":"2015","unstructured":"Ayd\u0131ner \u00d6Karako\u00e7 Ayd\u0131ner EAkp\u0131nar \u0130Turan S & Bereket A. Normative data of thyroid volume-ultrasonographic evaluation of 422 subjects aged 0\u201355 years. Journal of Clinical Research in Pediatric Endocrinology2015798\u2013101. (https:\/\/doi.org\/10.4274\/jcrpe.1818)"},{"key":"bib23","series-title":"Human Mutation","first-page":"564","article-title":"HGVS recommendations for the description of sequence variants: 2016 update","volume":"37","author":"den Dunnen","year":"2016","unstructured":"den Dunnen JTDalgleish RMaglott DRHart RKGreenblatt MSMcGowan-Jordan JRoux AFSmith TAntonarakis SE & Taschner PE. HGVS recommendations for the description of sequence variants: 2016 update. Human Mutation201637564\u2013569. (https:\/\/doi.org\/10.1002\/humu.22981)"},{"key":"bib24","series-title":"Genetics in Medicine","first-page":"405","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","unstructured":"Richards SAziz NBale SBick DDas SGastier-Foster JGrody WWHegde MLyon ESpector E, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine201517405\u2013424. (https:\/\/doi.org\/10.1038\/gim.2015.30)"},{"key":"bib25","series-title":"Human Genetics","first-page":"1","article-title":"The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine","volume":"133","author":"Stenson","year":"2014","unstructured":"Stenson PDMort MBall EVShaw KPhillips A & Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics20141331\u20139. (https:\/\/doi.org\/10.1007\/s00439-013-1358-4)"},{"key":"bib26","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"2679","article-title":"Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism","volume":"93","author":"Leonardi","year":"2008","unstructured":"Leonardi DPolizzotti NCarta AGelsomino RSava LVigneri R & Calaciura F. Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. Journal of Clinical Endocrinology and Metabolism2008932679\u20132685. (https:\/\/doi.org\/10.1210\/jc.2007-2612)"},{"key":"bib27","series-title":"Pediatrics","first-page":"2","article-title":"Update of newborn screening and therapy for congenital hypothyroidism","volume":"117","year":"2006","unstructured":"American Academy of Pediatrics, Rose SR; Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S & Varma SK. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics20061172290\u20132303. (https:\/\/doi.org\/10.1542\/peds.2006-0915)"},{"key":"bib28","series-title":"European Journal of Endocrinology","first-page":"43","article-title":"Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy","volume":"166","author":"Karako\u00e7-Ayd\u0131ner","year":"2012","unstructured":"Karako\u00e7-Ayd\u0131ner ETuran SAkp\u0131nar IDede F\u0130\u015fguven PAdal EGuran TAk\u00e7ay T & Bereket A. Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy. European Journal of Endocrinology201216643\u201348. (https:\/\/doi.org\/10.1530\/EJE-11-0140)"},{"key":"bib29","series-title":"Molecular and Cellular Endocrinology","first-page":"277","article-title":"New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism","volume":"365","author":"Citterio","year":"2013","unstructured":"Citterio CEMachiavelli GAMiras MBGru\u00f1eiro-Papendieck LLachlan KSobrero GChiesa AWalker JMu\u00f1oz LTesta G, New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. Molecular and Cellular Endocrinology2013365277\u2013291. (https:\/\/doi.org\/10.1016\/j.mce.2012.11.002)"},{"key":"bib30","series-title":"Molecular and Cellular Endocrinology","first-page":"1","article-title":"Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism","volume":"473","author":"Siffo","year":"2018","unstructured":"Siffo SAdrover ECitterio CEMiras MBBalbi VAChiesa AWeill JSobrero GGonz\u00e1lez VGPapendieck P, Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism. Molecular and Cellular Endocrinology20184731\u201316. (https:\/\/doi.org\/10.1016\/j.mce.2017.12.009)"},{"key":"bib31","series-title":"Journal of Biological Chemistry","first-page":"17564","article-title":"Cis and trans actions of the cholinesterase-like domain within the thyroglobulin dimer","volume":"285","author":"Wang","year":"2010","unstructured":"Wang XLee JDi Jeso BTreglia ASComoletti DDubi NTaylor P & Arvan P. Cis and trans actions of the cholinesterase-like domain within the thyroglobulin dimer. Journal of Biological Chemistry201028517564\u201317573. (https:\/\/doi.org\/10.1074\/jbc.M110.111641)"},{"key":"bib32","series-title":"Endocrine Reviews","first-page":"2","article-title":"Thyroglobulin from molecular and cellular biology to clinical endocrinology","volume":"37","author":"Di Jeso","year":"2016","unstructured":"Di Jeso B & Arvan P. Thyroglobulin from molecular and cellular biology to clinical endocrinology. Endocrine Reviews2016372\u201336. (https:\/\/doi.org\/10.1210\/er.2015-1090)"},{"key":"bib33","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"1889","article-title":"Molecular analysis of congenital hypothyroidism in Saudi Arabia: SLC26A7 mutation is a novel defect in thyroid dyshormonogenesis","volume":"103","author":"Zou","year":"2018","unstructured":"Zou MAlzahrani ASAl-Odaib AAlqahtani MABabiker OAl-Rijjal RABinEssa HAKattan WEAl-Enezi AFAl Qarni A, Molecular analysis of congenital hypothyroidism in Saudi Arabia: SLC26A7 mutation is a novel defect in thyroid dyshormonogenesis. Journal of Clinical Endocrinology and Metabolism20181031889\u20131898. (https:\/\/doi.org\/10.1210\/jc.2017-02202)"},{"key":"bib34","series-title":"Hormone Research in Paediatrics","first-page":"252","article-title":"High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands","volume":"82","author":"Jin","year":"2014","unstructured":"Jin HYHeo SHKim YMKim GHChoi JHLee BH & Yoo HW. High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Hormone Research in Paediatrics201482252\u2013260. (https:\/\/doi.org\/10.1159\/000362235)"},{"key":"bib35","series-title":"Journal of Pediatric Endocrinology and Metabolism","first-page":"807","article-title":"High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism","volume":"29","author":"Matsuo","year":"2016","unstructured":"Matsuo KTanahashi YMukai TSuzuki STajima TAzuma H & Fujieda K. High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. Journal of Pediatric Endocrinology and Metabolism201629807\u2013812. (https:\/\/doi.org\/10.1515\/jpem-2015-0400)"},{"key":"bib36","series-title":"Thyroid","first-page":"790","article-title":"DUOX2\/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the United Kingdom","volume":"29","author":"Peters","year":"2019","unstructured":"Peters CNicholas AKSchoenmakers ELyons GLangham SSerra EGSebire NJMuzza MFugazzola L & Schoenmakers N. DUOX2\/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the United Kingdom. Thyroid201929790\u2013801. (https:\/\/doi.org\/10.1089\/thy.2018.0587)"},{"key":"bib37","series-title":"Thyroid","first-page":"639","article-title":"Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct","volume":"24","author":"Ladsous","year":"2014","unstructured":"Ladsous MVlaeminck-Guillem VDumur VVincent CDubrulle FDhaenens CM & W\u00e9meau JL. Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. Thyroid201424639\u2013648. (https:\/\/doi.org\/10.1089\/thy.2013.0164)"},{"key":"bib38","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"E169","article-title":"Identification of pendrin (SLC26A4) mutations in patients with congenital hypothyroidism and \"apparent\" thyroid dysgenesis","volume":"99","author":"K\u00fchnen","year":"2014","unstructured":"K\u00fchnen PTuran SFr\u00f6hler SG\u00fcran TAbali SBiebermann HBereket AGr\u00fcters AChen W & Krude H. Identification of pendrin (SLC26A4) mutations in patients with congenital hypothyroidism and \"apparent\" thyroid dysgenesis. Journal of Clinical Endocrinology and Metabolism201499E169\u2013E176. (https:\/\/doi.org\/10.1210\/jc.2013-2619)"},{"key":"bib39","series-title":"Best Practice and Research. Clinical Endocrinology and Metabolism","first-page":"213","article-title":"Pendred syndrome","volume":"31","author":"W\u00e9meau","year":"2017","unstructured":"W\u00e9meau JL & Kopp P. Pendred syndrome. Best Practice and Research. Clinical Endocrinology and Metabolism201731213\u2013224. (https:\/\/doi.org\/10.1016\/j.beem.2017.04.011)"},{"key":"bib40","series-title":"Pediatrics International","first-page":"76","article-title":"Increased incidence of congenital hypothyroidism due to iodine deficiency","volume":"49","author":"Sa\u011flam","year":"2007","unstructured":"Sa\u011flam HB\u00fcy\u00fckuysal LK\u00f6ksal NErcan I & Tarim O. Increased incidence of congenital hypothyroidism due to iodine deficiency. Pediatrics International20074976\u201379. (https:\/\/doi.org\/10.1111\/j.1442-200X.2007.02297.x)"},{"key":"bib41","series-title":"Pediatrics International","first-page":"276","article-title":"Incidence of iodine deficiency in Turkish patients with congenital hypothyroidism","volume":"50","author":"Evliyao\u011flu","year":"2008","unstructured":"Evliyao\u011flu OKutlu AKara C & Atavci SG. Incidence of iodine deficiency in Turkish patients with congenital hypothyroidism. Pediatrics International200850276\u2013280. (https:\/\/doi.org\/10.1111\/j.1442-200X.2008.02569.x)"},{"key":"bib42","series-title":"Clinical Endocrinology","first-page":"615","article-title":"Iodine deficiency in pregnant women in the apparently iodine-sufficient capital city of Turkey","volume":"77","author":"Oguz Kutlu","year":"2012","unstructured":"Oguz Kutlu A & Kara C. Iodine deficiency in pregnant women in the apparently iodine-sufficient capital city of Turkey. Clinical Endocrinology201277615\u2013620. (https:\/\/doi.org\/10.1111\/j.1365-2265.2012.04440.x)"},{"key":"bib43","series-title":"Journal of Trace Elements in Medicine and Biology: Organ of the Society for Minerals and Trace Elements","article-title":"Iodine status of Turkish pregnant women and their offspring: a national cross-sectional survey","volume":"63","author":"Vural","year":"2021","unstructured":"Vural MKoc EEvliyaoglu OAcar HCAydin AFKucukgergin CApaydin GErginoz EBabazade XSharifova S, Iodine status of Turkish pregnant women and their offspring: a national cross-sectional survey. Journal of Trace Elements in Medicine and Biology: Organ of the Society for Minerals and Trace Elements202163 126664. (https:\/\/doi.org\/10.1016\/j.jtemb.2020.126664)"},{"key":"bib44","series-title":"Frontiers in Endocrinology","first-page":"656551","article-title":"Resistance to thyroid hormone beta: a focused review","volume":"12","author":"Pappa","year":"2021","unstructured":"Pappa T & Refetoff S. Resistance to thyroid hormone beta: a focused review. Frontiers in Endocrinology202112656551. (https:\/\/doi.org\/10.3389\/fendo.2021.656551)"},{"key":"bib45","series-title":"Nature Reviews. Endocrinology","first-page":"734","article-title":"Subclinical hypothyroidism in childhood - current knowledge and open issues","volume":"12","author":"Salerno","year":"2016","unstructured":"Salerno MCapalbo DCerbone M & De Luca F. Subclinical hypothyroidism in childhood - current knowledge and open issues. Nature Reviews. Endocrinology201612734\u2013746. (https:\/\/doi.org\/10.1038\/nrendo.2016.100)"},{"key":"bib46","series-title":"Best Practice and Research. Clinical Endocrinology and Metabolism","first-page":"183","article-title":"Resistance to thyrotropin","volume":"31","author":"Grasberger","year":"2017","unstructured":"Grasberger H & Refetoff S. Resistance to thyrotropin. Best Practice and Research. Clinical Endocrinology and Metabolism201731183\u2013194. (https:\/\/doi.org\/10.1016\/j.beem.2017.03.004)"},{"key":"bib47","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"E156","article-title":"Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia","volume":"97","author":"Calebiro","year":"2012","unstructured":"Calebiro DGelmini GCordella DBonomi MWinkler FBiebermann Hde Marco AMarelli FLibri DVAntonica F, Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia. Journal of Clinical Endocrinology and Metabolism201297E156\u2013E160. (https:\/\/doi.org\/10.1210\/jc.2011-1938)"}],"container-title":["European Thyroid Journal"],"original-title":[],"link":[{"URL":"https:\/\/etj.bioscientifica.com\/view\/journals\/etj\/12\/3\/ETJ-22-0212.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/etj.bioscientifica.com\/downloadpdf\/journals\/etj\/12\/3\/ETJ-22-0212.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/etj.bioscientifica.com\/downloadpdf\/journals\/etj\/12\/3\/ETJ-22-0212.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:51:42Z","timestamp":1784555502000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/etj\/article\/2871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,13]]},"references-count":47,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1530\/etj-22-0212","relation":{},"ISSN":["2235-0802"],"issn-type":[{"value":"2235-0802","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,13]]}}}