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(2015) Guidelines for mass screening of congenital hypothyroidism (2014 revision). Clin Pediatr Endocrinol 24: 107\u2013133.","DOI":"10.1297\/cpe.24.107"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Rastogi MV, LaFranchi SH (2010) Congenital hypothyroidism. Orphanet J Rare Dis 5: 17.","DOI":"10.1186\/1750-1172-5-17"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3 Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, et al. (2018) The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. Eur J Endocrinol 178: 623\u2013633.","DOI":"10.1530\/EJE-17-1017"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Makretskaya N, Bezlepkina O, Kolodkina A, Kiyaev A, Vasilyev EV, et al. (2018) High frequency of mutations in \u2018dyshormonogenesis genes\u2019 in severe congenital hypothyroidism. 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(2018) Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. Endocr J 65: 1019\u20131028.","DOI":"10.1507\/endocrj.EJ18-0156"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Yamaguchi T, Nakamura A, Nakayama K, Hishimura N, Morikawa S, et al. (2020) Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening. J Clin Endocrinol Metab 105: dgaa308.","DOI":"10.1210\/clinem\/dgaa308"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Yamamura H, Kokumai T, Furuya A, Suzuki S, Tanahashi Y, et al. (2020) Increase in doses of levothyroxine at the age of 3 years and above is useful for distinguishing transient and permanent congenital hypothyroidism. 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Pediatr Neonatol 61: 114\u2013116.","DOI":"10.1016\/j.pedneo.2019.11.003"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Tsunekawa K, Onigata K, Morimura T, Kasahara T, Nishiyama S, et al. (2006) Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance. Thyroid 16: 471\u2013479.","DOI":"10.1089\/thy.2006.16.471"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Matsuo K, Tanahashi Y, Mukai T, Suzuki S, Tajima T, et al. (2016) High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. J Pediatr Endocrinol Metab 29: 807\u2013812.","DOI":"10.1515\/jpem-2015-0400"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, et al. (2011) Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. 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Eur J Endocrinol 174: 453\u2013463.","DOI":"10.1530\/EJE-15-0959"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, et al. (2017) A frequent oligogenic involvement in congenital hypothyroidism. Hum Mol Genet 26: 2507\u20132514.","DOI":"10.1093\/hmg\/ddx145"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 van Trotsenburg P, Stoupa A, L\u00e9ger J, Rohrer T, Peters C, et al. (2021) 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. 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