{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:17:52Z","timestamp":1790252272737,"version":"4.1.0"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T00:00:00Z","timestamp":1651622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T00:00:00Z","timestamp":1651622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1007\/s12020-022-03054-3","type":"journal-article","created":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T10:06:21Z","timestamp":1651658781000},"page":"86-101","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis"],"prefix":"10.1007","volume":"77","author":[{"given":"Maricel F.","family":"Molina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Papendieck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Sobrero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana A.","family":"Balbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella S.","family":"Belforte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena Bueno","family":"Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezequiela","family":"Adrover","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda C.","family":"Olcese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Chiesa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirta B.","family":"Miras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ver\u00f3nica G.","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio Gomes","family":"Pio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogelio","family":"Gonz\u00e1lez-Sarmiento","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9ctor M.","family":"Targovnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9484-368X","authenticated-orcid":false,"given":"Carina M.","family":"Rivolta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,5,4]]},"reference":[{"key":"3054_CR1","doi-asserted-by":"publisher","first-page":"169","DOI":"10.6065\/apem.2018.23.4.169","volume":"23","author":"MJ Kwak","year":"2018","unstructured":"M.J. Kwak, Clinical genetics of defects in thyroid hormone synthesis. Ann. Pediatr. Endocrinol. Metab. 23, 169\u2013175 (2018). https:\/\/doi.org\/10.6065\/apem.2018.23.4.169","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"3054_CR2","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1007\/s12020-021-02646-9","volume":"71","author":"A Stoupa","year":"2021","unstructured":"A. Stoupa, D. Kariyawasam, M. Muzza, T. de Filippis, L. Fugazzola, M. Polak, L. Persani, A. Carr\u00e9, New genetics in congenital hypothyroidism. Endocrine 71, 696\u2013705 (2021). https:\/\/doi.org\/10.1007\/s12020-021-02646-9","journal-title":"Endocrine"},{"key":"3054_CR3","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1089\/thy.2020.0333","volume":"31","author":"P van Trotsenburg","year":"2021","unstructured":"P. van Trotsenburg, A. Stoupa, J. L\u00e9ger, T. Rohrer, C. Peters, L. Fugazzola, A. Cassio, C. Heinrichs, V. Beauloye, J. Pohlenz, P. Rodien, R. Coutant, G. Szinnai, P. Murray, B. Bart\u00e9s, D. Luton, M. Salerno, L. de Sanctis, M. Vigone, H. Krude, L. Persani, M. Polak, Congenital hypothyroidism: a 2020-2021 consensus guidelines update-an ENDO-European reference network initiative endorsed by the European society for pediatric endocrinology and the European society for endocrinology. Thyroid 31, 387\u2013419 (2021). https:\/\/doi.org\/10.1089\/thy.2020.0333","journal-title":"Thyroid"},{"key":"3054_CR4","doi-asserted-by":"publisher","first-page":"110638","DOI":"10.1016\/j.mce.2019.110638","volume":"501","author":"HM Targovnik","year":"2020","unstructured":"H.M. Targovnik, K.G. Scheps, C.M. Rivolta, Defects in protein folding in congenital hypothyroidism. Mol. Cell. Endocrinol. 501, 110638 (2020). https:\/\/doi.org\/10.1016\/j.mce.2019.110638","journal-title":"Mol. Cell. Endocrinol."},{"key":"3054_CR5","doi-asserted-by":"publisher","first-page":"237","DOI":"10.3389\/fendo.2020.00237","volume":"11","author":"F Wang","year":"2020","unstructured":"F. Wang, Y. Zang, M. Li, W. Liu, Y. Wang, X. Yu, H. Li, F. Wang, S. Liu, DUOX2 and DUOXA2 variants confer susceptibility to thyroid dysgenesis and gland-in-situ with congenital hypothyroidism. Front. Endocrinol. (Lausanne) 11, 237 (2020). https:\/\/doi.org\/10.3389\/fendo.2020.00237","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"3054_CR6","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1056\/NEJMoa012752","volume":"347","author":"JC Moreno","year":"2002","unstructured":"J.C. Moreno, H. Bikker, M.J.E. Kempers, A.S.P. van Trotsenburg, F. Baas, J.J.M. de Vijlder, T. Vulsma, C. Ris-Stalpers, Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N. Engl. J. Med. 347, 95\u2013102 (2002). https:\/\/doi.org\/10.1056\/NEJMoa012752","journal-title":"N. Engl. J. Med."},{"key":"3054_CR7","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1002\/humu.9175","volume":"22","author":"CM Rivolta","year":"2003","unstructured":"C.M. Rivolta, S.A. Esperante, L. Gru\u00f1eiro-Papendieck, A. Chiesa, C.M. Moya, S. Domen\u00e9, V. Varela, H.M. Targovnik, Five novel inactivating mutations in the human thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Hum. Mutat. 22, 259 (2003). https:\/\/doi.org\/10.1002\/humu.9175","journal-title":"Hum. Mutat."},{"key":"3054_CR8","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H.L. Rehm; ACMG Laboratory Quality Assurance Committee, 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. Genet. Med. 17, 405\u2013424 (2015). https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet. Med."},{"key":"3054_CR9","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1210\/jcem.82.2.3729","volume":"82","author":"H Bikker","year":"1997","unstructured":"H. Bikker, F. Baas, J.J.M. de Vijlder, Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. J. Clin. Endocrinol. Metab. 82, 649\u2013653 (1997). https:\/\/doi.org\/10.1210\/jcem.82.2.3729","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR10","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/j.mce.2014.12.026","volume":"404","author":"FS Belforte","year":"2015","unstructured":"F.S. Belforte, A.M. Targovnik, R.M. Gonz\u00e1lez-Lebrero, C. Osorio Larroche, C.E. Citterio, R. Gonz\u00e1lez-Sarmiento, M.V. Miranda, H.M. Targovnik, C.M. Rivolta, Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus system: a molecular model of functional expression. Mol. Cell. Endocrinol. 404, 9\u201315 (2015). https:\/\/doi.org\/10.1016\/j.mce.2014.12.026","journal-title":"Mol. Cell. Endocrinol."},{"key":"3054_CR11","doi-asserted-by":"publisher","first-page":"110761","DOI":"10.1016\/j.mce.2020.110761","volume":"506","author":"R-J Zhang","year":"2020","unstructured":"R.-J. Zhang, F. Sun, F. Chen, Y. Fang, C.-Y. Yan, C.-R. Zhang, Y.-X. Ying, Z. Wang, C.-X. Zhang, F.-Y. Wu, B. Han, J. Liang, S.-X. Zhao, H.-D. Song, The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism. Mol. Cell. Endocrinol. 506, 110761 (2020). https:\/\/doi.org\/10.1016\/j.mce.2020.110761","journal-title":"Mol. Cell. Endocrinol."},{"key":"3054_CR12","doi-asserted-by":"publisher","first-page":"E544","DOI":"10.1210\/jc.2013-3618","volume":"99","author":"M Muzza","year":"2014","unstructured":"M. Muzza, S. Rabbiosi, M.C. Vigone, I. Zamproni, V. Cirello, M.A. Maffini, K. Maruca, N. Schoenmakers, L. Beccaria, F. Gallo, S.-M. Park, P. Beck-Peccoz, L. Persani, G. Weber, L. Fugazzola, The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. J. Clin. Endocrinol. Metab. 99, E544\u2013E553 (2014). https:\/\/doi.org\/10.1210\/jc.2013-3618","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR13","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/1750-1172-5-17","volume":"5","author":"MV Rastogi","year":"2010","unstructured":"M.V. Rastogi, S.H. LaFranchi, Congenital hypothyroidism Orphanet. J. Rare Dis. 5, 17 (2010). https:\/\/doi.org\/10.1186\/1750-1172-5-17","journal-title":"J. Rare Dis."},{"key":"3054_CR14","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1089\/thy.2017.0502","volume":"28","author":"A Stoupa","year":"2018","unstructured":"A. Stoupa, R. Chaabane, M. Gu\u00e9riouz, C. Raynaud-Ravni, P. Nitschke, C. Bole-Feysot, M. Mnif, L. Ammar Keskes, M. Hachicha, N. Belguith, M. Polak, A. Carr\u00e9, Thyroid hypoplasia in congenital hypothyroidism associated with thyroid peroxidase mutations. Thyroid 28, 941\u2013944 (2018). https:\/\/doi.org\/10.1089\/thy.2017.0502","journal-title":"Thyroid"},{"key":"3054_CR15","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1089\/thy.2016.0469","volume":"27","author":"P Srichomkwun","year":"2017","unstructured":"P. Srichomkwun, J. Takamatsu, D.A. Nickerson, M.J. Bamshad, J.X. Chong, S. Refetoff, DUOX2 gene mutation manifesting as resistance to thyrotropin phenotype. Thyroid 27, 129\u2013131 (2017). https:\/\/doi.org\/10.1089\/thy.2016.0469","journal-title":"Thyroid"},{"key":"3054_CR16","doi-asserted-by":"publisher","first-page":"e010719","DOI":"10.1136\/bmjopen-2015-010719","volume":"6","author":"C Fu","year":"2016","unstructured":"C. Fu, B. Xie, S. Zhang, J. Wang, S. Luo, H. Zheng, J. Su, X. Hu, R. Chen, X. Fan, J. Luo, X. Gu, S. Chen, Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. BMJ Open 6, e010719 (2016). https:\/\/doi.org\/10.1136\/bmjopen-2015-010719","journal-title":"BMJ Open"},{"key":"3054_CR17","doi-asserted-by":"publisher","first-page":"E1335","DOI":"10.1210\/jc.2010-2467","volume":"96","author":"G De Marco","year":"2011","unstructured":"G. De Marco, P. Agretti, L. Montanelli, C. Di Cosmo, B. Bagattini, M. De Servi, E. Ferrarini, A. Dimida, A.C. Freitas Ferreira, A. Molinaro, C. Ceccarelli, F. Brozzi, A. Pinchera, P. Vitti, M. Tonacchera, Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. J. Clin. Endocrinol. Metab. 96, E1335\u2013E1339 (2011). https:\/\/doi.org\/10.1210\/jc.2010-2467","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR18","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1111\/cen.12469","volume":"81","author":"F Wang","year":"2014","unstructured":"F. Wang, K. Lu, Z. Yang, S. Zhang, W. Lu, L. Zhang, S. Liu, S. Yan, Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes. Clin. Endocrinol. (Oxf.) 81, 452\u2013457 (2014). https:\/\/doi.org\/10.1111\/cen.12469","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"3054_CR19","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1089\/thy.2018.0587","volume":"29","author":"C Peters","year":"2019","unstructured":"C. Peters, A.K. Nicholas, E. Schoenmakers, G. Lyons, S. Langham, E.G. Serra, N.J. Sebire, M. Muzza, L. Fugazzola, N. Schoenmakers, DUOX2\/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the United Kingdom. Thyroid 29, 790\u2013801 (2019). https:\/\/doi.org\/10.1089\/thy.2018.0587","journal-title":"Thyroid"},{"key":"3054_CR20","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1055\/s-0042-112224","volume":"48","author":"M Tan","year":"2016","unstructured":"M. Tan, Y. Huang, X. Jiang, P. Li, C. Tang, X. Jia, Q. Chen, W. Chen, H. Sheng, Y. Feng, D. Wu, L. Liu, The prevalence, clinical, and molecular characteristics of congenital hypothyroidism caused by DUOX2 mutations: a population-based cohort study in Guangzhou. Horm. Metab. Res. 48, 581\u2013588 (2016). https:\/\/doi.org\/10.1055\/s-0042-112224","journal-title":"Horm. Metab. Res."},{"key":"3054_CR21","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.cca.2017.02.009","volume":"468","author":"X Fan","year":"2017","unstructured":"X. Fan, C. Fu, Y. Shen, C. Li, S. Luo, Q. Li, J. Luo, J. Su, S. Zhang, X. Hu, R. Chen, X. Gu, S. Chen, Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. Clin. Chim. Acta 468, 76\u201380 (2017). https:\/\/doi.org\/10.1016\/j.cca.2017.02.009","journal-title":"Clin. Chim. Acta"},{"key":"3054_CR22","doi-asserted-by":"publisher","first-page":"526","DOI":"10.3389\/fendo.2019.00526","volume":"10","author":"S Liu","year":"2019","unstructured":"S. Liu, W. Han, Y. Zang, H. Zang, F. Wang, P. Jiang, H. Wei, X. Liu, Y. Wang, X. Ma, Y. Ge, Identification of two missense mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) that can cause congenital hypothyroidism through impairing H2O2 generation. Front. Endocrinol. (Lausanne) 10, 526 (2019). https:\/\/doi.org\/10.3389\/fendo.2019.00526","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"3054_CR23","doi-asserted-by":"publisher","first-page":"e99631","DOI":"10.1172\/jci.insight.99631","volume":"3","author":"H Cangul","year":"2018","unstructured":"H. Cangul, X.-H. Liao, E. Schoenmakers, J. Kero, S. Barone, P. Srichomkwun, H. Iwayama, E.G. Serra, H. Saglam, E. Eren, O. Tarim, A.K. Nicholas, I. Zvetkova, C.A. Anderson, F.E.K. Frankl, K. Boelaert, M. Ojaniemi, J. J\u00e4\u00e4skel\u00e4inen, K. Patyra, C. L\u00f6f, E.D. Williams; UK10K Consortium, M. Soleimani, T. Barrett, E.R. Maher, V.K. Chatterjee, S. Refetoff, N. Schoenmakers, Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI insight 3, e99631 (2018). https:\/\/doi.org\/10.1172\/jci.insight.99631","journal-title":"JCI insight"},{"key":"3054_CR24","doi-asserted-by":"crossref","unstructured":"X. De Deken, F. Miot, DUOX defects and their roles in congenital hypothyroidism. In: Knaus U.G., T. L. Leto (eds.) NADPH Oxidases: Methods and Protocols, Methods in Molecular Biology, vol. 1982, 667-693. Springer Science+Business Media","DOI":"10.1007\/978-1-4939-9424-3_37"},{"key":"3054_CR25","doi-asserted-by":"publisher","first-page":"2507","DOI":"10.1093\/hmg\/ddx145","volume":"26","author":"T de Filippis","year":"2017","unstructured":"T. de Filippis, G. Gelmini, E. Paraboschi, M.C. Vigone, M. di Frenna, F. Marelli, M. Bonomi, A. Cassio, D. Larizza, M. Moro, G. Radetti, M. Salerno, D. Ardissino, G. Weber, D. Gentilini, F. Guizzardi, S. Duga, L. Persani, A frequent oligogenic involvement in congenital hypothyroidism. Hum. Mol. Genet. 26, 2507\u20132514 (2017). https:\/\/doi.org\/10.1093\/hmg\/ddx145","journal-title":"Hum. Mol. Genet."},{"key":"3054_CR26","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1507\/endocrj.EJ18-0156","volume":"65","author":"W Long","year":"2018","unstructured":"W. Long, G. Lu, W. Zhou, Y. Yang, B. Zhang, H. Zhou, L. Jiang, B. Yu, Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. Endocr. J. 65, 1019\u20131028 (2018). https:\/\/doi.org\/10.1507\/endocrj.EJ18-0156","journal-title":"Endocr. J."},{"key":"3054_CR27","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1515\/jpem-2015-0383","volume":"29","author":"S-G Ma","year":"2016","unstructured":"S.-G. Ma, X. Zheng, Y.-L. Qiu, M.-L. Guo, X.-J. Shao, Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. J. Pediatr. Endocrinol. Metab. 29, 567\u2013570 (2016). https:\/\/doi.org\/10.1515\/jpem-2015-0383","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"3054_CR28","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1172\/JCI115981","volume":"90","author":"MJ Abramowicz","year":"1992","unstructured":"M.J. Abramowicz, H.M. Targovnik, V. Varela, P. Cochaux, L. Krawiec, M.A. Pisarev, F.V.E. Propato, G. Juvenal, H.A. Chester, G. Vassart, Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J. Clin. Invest. 90, 1200\u20131204 (1992). https:\/\/doi.org\/10.1172\/JCI115981","journal-title":"J. Clin. Invest."},{"key":"3054_CR29","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1055\/s-0029-1211718","volume":"104","author":"A Gr\u00fcters","year":"1996","unstructured":"A. Gr\u00fcters, B. K\u00f6hler, A. Wolf, A. S\u00f6ling, L. de Vijlder, H. Krude, H. Biebermann, Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism. Exp. Clin. Endocrinol. Diabetes 104, 121\u2013123 (1996). https:\/\/doi.org\/10.1055\/s-0029-1211718","journal-title":"Exp. Clin. Endocrinol. Diabetes"},{"key":"3054_CR30","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1046\/j.1365-2265.1999.00746.x","volume":"51","author":"CLS Santos","year":"1999","unstructured":"C.L.S. Santos, H. Bikker, K.G.M. Rego, A.C. Nascimento, M. Tambascia, J.J.M. de Vijlder, G. Medeiros-Neto, A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. Clin. Endocrinol. (Oxf.) 51, 165\u2013172 (1999). https:\/\/doi.org\/10.1046\/j.1365-2265.1999.00746.x","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"3054_CR31","doi-asserted-by":"publisher","first-page":"3708","DOI":"10.1210\/jcem.85.10.6878","volume":"85","author":"B Bakker","year":"2000","unstructured":"B. Bakker, H. Bikker, T. Vulsma, J.S.E. de Randamie, B.M. Wiedijk, J.J.M. de Vijlder, Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defect (an update). J. Clin. Endocrinol. Metab. 85, 3708\u20133712 (2000). https:\/\/doi.org\/10.1210\/jcem.85.10.6878","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR32","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1089\/105072502320908277","volume":"12","author":"F Calaciura","year":"2002","unstructured":"F. Calaciura, G. Miscio, A. Coco, D. Leonardi, C. Cisternino, C. Regalbuto, M. Bozzali, R. Maiorana, A. Ranieri, A. Carta, M. Buscema, V. Trischitta, L. Sava, V. Tassi, Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach. Thyroid 12, 945\u2013951 (2002). https:\/\/doi.org\/10.1089\/105072502320908277","journal-title":"Thyroid"},{"key":"3054_CR33","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1089\/10507250360731550","volume":"13","author":"AC Nascimento","year":"2003","unstructured":"A.C. Nascimento, D.R. Guedes, C.S. Santos, M. Knobel, I.G.S. Rubio, G. Medeiros-Neto, Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid 13, 1145\u20131151 (2003). https:\/\/doi.org\/10.1089\/10507250360731550","journal-title":"Thyroid"},{"key":"3054_CR34","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1089\/thy.2005.15.1085","volume":"15","author":"L Fugazzola","year":"2005","unstructured":"L. Fugazzola, D. Mannavola, M.C. Vigone, V. Cirello, G. Weber, P. Beck-Peccoz, L. Persani, Total iodide organification defect: clinical and molecular characterization of an Italian family. Thyroid 15, 1085\u20131088 (2005). https:\/\/doi.org\/10.1089\/thy.2005.15.1085","journal-title":"Thyroid"},{"key":"3054_CR35","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1530\/eje.1.01826","volume":"152","author":"C Rodrigues","year":"2005","unstructured":"C. Rodrigues, P. Jorge, J.P. Soares, I. Santos, R. Salom\u00e3o, M. Madeira, R.V. Os\u00f3rio, R. Santos, Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. Eur. J. Endocrinol. 152, 193\u2013198 (2005). https:\/\/doi.org\/10.1530\/eje.1.01826","journal-title":"Eur. J. Endocrinol."},{"key":"3054_CR36","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1530\/EJE-07-0037","volume":"156","author":"M Avbelj","year":"2007","unstructured":"M. Avbelj, H. Tahirovic, M. Debeljak, M. Kusekova, A. Toromanovic, C. Krzisnik, T. Battelino, High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur. J. Endocrinol. 156, 511\u2013519 (2007). https:\/\/doi.org\/10.1530\/EJE-07-0037","journal-title":"Eur. J. Endocrinol."},{"key":"3054_CR37","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1111\/j.1365-2265.2011.04249.x","volume":"76","author":"FS Belforte","year":"2012","unstructured":"F.S. Belforte, M.B. Miras, M.C. Olcese, G. Sobrero, G. Testa, L. Mu\u00f1oz, L. Gru\u00f1eiro-Papendieck, A. Chiesa, R. Gonz\u00e1lez-Sarmiento, H.M. Targovnik, C.M. Rivolta, Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene. Clin. Endocrinol. (Oxf.) 76, 568\u2013576 (2012). https:\/\/doi.org\/10.1111\/j.1365-2265.2011.04249.x","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"3054_CR38","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1055\/s-0033-1333766","volume":"121","author":"K Altmann","year":"2013","unstructured":"K. Altmann, P. Hermanns, R. M\u00fchlenberg, S. Fricke-Otto, R. Wentzell, J. Pohlenz, Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations. Exp. Clin. Endocrinol. Diabetes 121, 343\u2013346 (2013). https:\/\/doi.org\/10.1055\/s-0033-1333766","journal-title":"Exp. Clin. Endocrinol. Diabetes"},{"key":"3054_CR39","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1111\/cen.12127","volume":"79","author":"H Cangul","year":"2013","unstructured":"H. Cangul, Z. Aycan, A. Olivera-Nappa, H. Saglam, N.A. Schoenmakers, K. Boelaert, S. Cetinkaya, O. Tarim, E. Bober, F. Darendeliler, V. Bas, K. Demir, B.K. Aydin, M. Kendall, T. Cole, W. H\u00f6gler, V.K.K. Chatterjee, T.G. Barrett, E.R. Maher, Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. Clin. Endocrinol. (Oxf.) 79, 275\u2013281 (2013). https:\/\/doi.org\/10.1111\/cen.12127","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"3054_CR40","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1055\/s-0035-1565268","volume":"4","author":"H Cangul","year":"2015","unstructured":"H. Cangul, B.K. Aydin, F. Bas, A homozygous TPO gene duplication (c.1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family. J. Pediatr. Genet. 4, 194\u2013198 (2015). https:\/\/doi.org\/10.1055\/s-0035-1565268","journal-title":"J. Pediatr. Genet."},{"key":"3054_CR41","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1089\/thy.2016.0016","volume":"26","author":"C L\u00f6f","year":"2016","unstructured":"C. L\u00f6f, K. Patyra, T. Kuulasmaa, J. Vangipurapu, H. Undeutsch, H. Jaeschke, T. Pajunen, A. Kero, H. Krude, H. Biebermann, G. Kleinau, P. K\u00fchnen, K. Rantakari, P. Miettinen, T. Kirjavainen, J.-P. Pursiheimo, T. Mustila, J. J\u00e4\u00e4skel\u00e4inen, M. Ojaniemi, J. Toppari, J. Ignatius, M. Laakso, J. Kero, Detection of novel gene variants associated with congenital hypothyroidism in a Finnish patient cohort. Thyroid 26, 1215\u20131224 (2016). https:\/\/doi.org\/10.1089\/thy.2016.0016","journal-title":"Thyroid"},{"key":"3054_CR42","doi-asserted-by":"publisher","first-page":"4521","DOI":"10.1210\/jc.2016-1879","volume":"101","author":"AK Nicholas","year":"2016","unstructured":"A.K. Nicholas, E.G. Serra, H. Cangul, S. Alyaarubi, I. Ullah, E. Schoenmakers, A. Deeb, A.M. Habeb, M. Almaghamsi, C. Peters, N. Nathwani, Z. Aycan, H. Saglam, E. Bober, M. Dattani, S. Shenoy, P.G. Murray, A. Babiker, R. Willemsen, A. Thankamony, G. Lyons, R. Irwin, R. Padidela, K. Tharian, J.H. Davies, V. Puthi, S.-M. Park, A.F. Massoud, J.W. Gregory, A. Albanese, E. Pease-Gevers, H. Martin, K. Brugger, E.R. Maher, V.K.K. Chatterjee, C.A. Anderson, N. Schoenmakers, Comprehensive screening of eight causatives genes in congenital hypothyroidism with gland-in-situ. J. Clin. Endocrinol. Metab. 101, 4521\u20134531 (2016). https:\/\/doi.org\/10.1210\/jc.2016-1879","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR43","doi-asserted-by":"publisher","first-page":"e0204323","DOI":"10.1371\/journal.pone.0204323","volume":"13","author":"N Makretskaya","year":"2018","unstructured":"N. Makretskaya, O. Bezlepkina, A. Kolodkina, A. Kiyaev, E.V. Vasilyev, V. Petrov, S. Kalinenkova, O. Malievsky, I.I. Dedov, A. Tiulpakov, High frequency of mutations in \u2018dyshormonogenesis genes\u2019 in severe congenital hypothyroidism. Plos One 13, e0204323 (2018). https:\/\/doi.org\/10.1371\/journal.pone.0204323","journal-title":"Plos One"},{"key":"3054_CR44","doi-asserted-by":"publisher","first-page":"1889","DOI":"10.1210\/jc.2017-02202","volume":"103","author":"M Zou","year":"2018","unstructured":"M. Zou, A.S. Alzahrani, A. Al-Odaib, M.A. Alqahtani, O. Babiker, R.A. Al-Rijjal, H.A. BinEssa, W.E. Kattan, A.F. Al-Enezi, A. Al Qarni, M.S.A. Al-Faham, E.Y. Baitei, A. Alsagheir, B.F. Meyer, Y. Shi, Molecular analysis of congenital hypothyroidism in Saudi Arabia: SLC26A7 mutation is a novel defect in thyroid dyshormonogenesis. J. Clin. Endocrinol. Metab. 103, 1889\u20131898 (2018). https:\/\/doi.org\/10.1210\/jc.2017-02202","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR45","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1515\/jpem-2019-0047","volume":"32","author":"R Santos-Silva","year":"2019","unstructured":"R. Santos-Silva, M. Ros\u00e1rio, A. Grangeia, C. Costa, C. Castro-Correia, I. Alonso, M. Le\u00e3o, M. Fontoura, Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. J. Pediatr. Endocrinol. Metab. 32, 1265\u20131273 (2019). https:\/\/doi.org\/10.1515\/jpem-2019-0047","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"3054_CR46","doi-asserted-by":"publisher","first-page":"390121","DOI":"10.1155\/2014\/390121","volume":"2014","author":"S Guria","year":"2014","unstructured":"S. Guria, B. Bankura, N. Balmiki, A.K. Pattanayak, T.K. Das, A. Sinha, S. Chakrabarti, S. Chowdhury, M. Das, Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis. Int. J. Endocrinol. 2014, 390121 (2014). https:\/\/doi.org\/10.1155\/2014\/390121","journal-title":"Int. J. Endocrinol."},{"key":"3054_CR47","doi-asserted-by":"publisher","first-page":"9218903","DOI":"10.1155\/2019\/9218903","volume":"2019","author":"MN Begum","year":"2019","unstructured":"M.N. Begum, M.T. Islam, S.R. Hossain, G.S. Bhuyan, M.A. Halim, I. Shahriar, S.K. Sarker, S. Haque, T.K. Konika, M.S. Islam, A. Rahat, S.K. Qadri, R. Sultana, S. Begum, S. Sultana, N. Saha, M. Hasan, M.A. Hasanat, H. Banu, H.U. Shekhar, E.K. Chowdhury, A.A. Sajib, A.B.M.M.K. Islam, S.S. Qadri, F. Qadri, S. Akhteruzzaman, K. Mannoor, Mutation spectrum in TPO gene of Bangladeshi patients with thyroid dyshormonogenesis and analysis of the effects of different mutations on the structural features and functions of TPO protein through in silico approach. Biomed. Res. Int. 2019, 9218903 (2019). https:\/\/doi.org\/10.1155\/2019\/9218903","journal-title":"Biomed. Res. Int."},{"key":"3054_CR48","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1210\/jcem.84.3.5541","volume":"84","author":"S Pannain","year":"1999","unstructured":"S. Pannain, R.E. Weiss, C.E. Jackson, D. Dian, J.C. Beck, V.C. Sheffield, N. Cox, S. Refetoff, Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J. Clin. Endocrinol. Metab. 84, 1061\u20131071 (1999). https:\/\/doi.org\/10.1210\/jcem.84.3.5541","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR49","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1530\/EJE-15-0959","volume":"174","author":"Y Maruo","year":"2016","unstructured":"Y. Maruo, K. Nagasaki, K. Matsui, Y. Mimura, A. Mori, M. Fukami, Y. Takeuchi, Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. Eur. J. Endocrinol. 174, 453\u2013463 (2016). https:\/\/doi.org\/10.1530\/EJE-15-0959","journal-title":"Eur. J. Endocrinol."},{"key":"3054_CR50","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1373\/clinchem.2005.058321","volume":"52","author":"V Varela","year":"2006","unstructured":"V. Varela, C.M. Rivolta, S.A. Esperante, L. Gru\u00f1eiro-Papendieck, A. Chiesa, H.M. Targovnik, Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A_C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Clin. Chem. 52, 182\u2013191 (2006). https:\/\/doi.org\/10.1373\/clinchem.2005.058321","journal-title":"Clin. Chem."},{"key":"3054_CR51","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1530\/EC-20-0411","volume":"9","author":"K Sorapipatcharoen","year":"2020","unstructured":"K. Sorapipatcharoen, T. Tim-Aroon, P. Mahachoklertwattana, W. Chantratita, N. Iemwimangsa, I. Sensorn, B. Panthan, P. Jiaranai, S. Noojarern, P. Khlairit, S. Pongratanakul, C. Suprasongsin, M. Korwutthikulrangsri, C. Sriphrapradang, P. Poomthavorn, DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients. Endocr. Connect. 9, 1121\u20131134 (2020). https:\/\/doi.org\/10.1530\/EC-20-0411","journal-title":"Endocr. Connect."},{"key":"3054_CR52","doi-asserted-by":"publisher","first-page":"657913","DOI":"10.3389\/fendo.2021.657913","volume":"12","author":"I Oliver-Petit","year":"2021","unstructured":"I. Oliver-Petit, T. Edouard, V. Jacques, M. Bournez, A. Cartault, S. Grunenwald, F. Savagner, Next-generation sequencing analysis reveals frequent familial origin and oligogenism in congenital hypothyroidism with dyshormonogenesis. Front. Endocrinol. (Lausanne) 12, 657913 (2021). https:\/\/doi.org\/10.3389\/fendo.2021.657913","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"3054_CR53","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1210\/jc.2007-2276","volume":"93","author":"J Delado\u00eby","year":"2008","unstructured":"J. Delado\u00eby, N. Pfarr, J.-M. Vuissoz, J. Parma, G. Vassart, S. Biesterfeld, J. Pohlenz, G. van Vliet, Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. J. Clin. Endocrinol. Metab. 93, 627\u2013633 (2008). https:\/\/doi.org\/10.1210\/jc.2007-2276","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3054_CR54","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1007\/s00580-012-1572-9","volume":"23","author":"AHM AL-Faisal","year":"2014","unstructured":"A.H.M. AL-Faisal, I.J. AL-Ramahi, I.A. Abudl-Hassan, A.T. Hamdan, S. Barusrux, Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter. Comp. Clin. Pathol. 23, 69\u201375 (2014). https:\/\/doi.org\/10.1007\/s00580-012-1572-9","journal-title":"Comp. Clin. Pathol."},{"key":"3054_CR55","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1530\/eje.0.1460491","volume":"146","author":"K Umeki","year":"2002","unstructured":"K. Umeki, T. Kotani, J.-I. Kawano, T. Suganuma, I. Yamamoto, Y. Aratake, M. Furujo, Y. Ichiba, Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. Eur. J. Endocrinol. 146, 491\u2013498 (2002). https:\/\/doi.org\/10.1530\/eje.0.1460491","journal-title":"Eur. J. Endocrinol."},{"key":"3054_CR56","doi-asserted-by":"publisher","first-page":"9564737","DOI":"10.1155\/2018\/9564737","volume":"2018","author":"CM Figueiredo","year":"2018","unstructured":"C.M. Figueiredo, I. Falc\u00e3o, J. Vilaverde, J. Freitas, M.J. Oliveira, C. Godinho, J. Dores, M.C. Rodrigues, C. Carvalho, T. Borges, Prenatal diagnosis and management of a fetal goiter hypothyroidism due to dyshormonogenesis. Case Rep. Endocrinol. 2018, 9564737 (2018). https:\/\/doi.org\/10.1155\/2018\/9564737","journal-title":"Case Rep. Endocrinol."},{"key":"3054_CR57","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1111\/cen.14253","volume":"93","author":"D Zhao","year":"2020","unstructured":"D. Zhao, Y. Li, Z. Shan, W. Teng, J. Li, X. Teng, Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism. Clin. Endocrinol. (Oxf.) 93, 499\u2013507 (2020). https:\/\/doi.org\/10.1111\/cen.14253","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"3054_CR58","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1677\/joe.0.1600267","volume":"160","author":"T Kotani","year":"1999","unstructured":"T. Kotani, K. Umeki, I. Yamamoto, H. Maesaka, K. Tachibana, S. Ohtaki, A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. J. Endocrinol. 160, 267\u2013273 (1999). https:\/\/doi.org\/10.1677\/joe.0.1600267","journal-title":"J. Endocrinol."},{"key":"3054_CR59","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1111\/j.1365-2265.2011.04156.x","volume":"75","author":"S-T Lee","year":"2011","unstructured":"S.-T. Lee, D.H. Lee, J.-Y. Kim, M.-J. Kwon, J.-W. Kim, Y.-H. Hong, Y.-W. Lee, C.-S. Ki, Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. Clin. Endocrinol. 75, 715\u2013721 (2011). https:\/\/doi.org\/10.1111\/j.1365-2265.2011.04156.x","journal-title":"Clin. Endocrinol."},{"key":"3054_CR60","doi-asserted-by":"publisher","first-page":"4060","DOI":"10.1210\/jc.2017-00832","volume":"102","author":"MML Kizys","year":"2017","unstructured":"M.M.L. Kizys, R.A. Louzada, M. Mitne-Neto, J.R. Jara, G.K. Furuzawa, D.P. de Carvalho, M.R. Dias-da-Silva, S. Nesi-Fran\u00e7a, C. Dupuy, R.M.B. Maciel, DUOX2 mutations are associated with congenital hypothyroidism with ectopic thyroid gland. J. Clin. Endocrinol. Metab. 102, 4060\u20134071 (2017). https:\/\/doi.org\/10.1210\/jc.2017-00832","journal-title":"J. Clin. Endocrinol. Metab."}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-022-03054-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-022-03054-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-022-03054-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T15:51:48Z","timestamp":1656517908000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-022-03054-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,4]]},"references-count":60,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["3054"],"URL":"https:\/\/doi.org\/10.1007\/s12020-022-03054-3","relation":{},"ISSN":["1559-0100"],"issn-type":[{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,4]]},"assertion":[{"value":"7 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The studies involving human participants were reviewed and approved by the Ethical Committee of the Faculty of Pharmacy and Biochemistry of the University of Buenos Aires (CEIC-FFyB, No. 1094). Written informed consent was obtained from the parents of the children involved in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}