{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T13:10:22Z","timestamp":1780924222191,"version":"3.54.1"},"reference-count":43,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T00:00:00Z","timestamp":1735862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Molecular, genetic, and technological advances have led to increased knowledge regarding neonatal thyroid hormone metabolism disorders. Maternal and fetal hypothyroidism, which can cause psychomotor dysfunction syndromes or low IQ levels, can lead to brain damage, reduced fetal growth and incidental fetal death. The treatment of congenital hypothyroidism detected by screening programs performed during the neonatal period provides normalization of growth, IQ levels, and the physical, mental, and motor development of infants. Therefore, the early diagnosis and treatment of congenital hypothyroidism will prevent the development of complications. In this article, the classification and management of neonatal thyroid diseases are reviewed in light of the current scientific literature.<\/jats:p>","DOI":"10.3390\/children12010055","type":"journal-article","created":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T07:10:17Z","timestamp":1735888217000},"page":"55","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical Insight into Congenital Hypothyroidism Among Children"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5800-9014","authenticated-orcid":false,"given":"H\u00fcseyin An\u0131l","family":"Korkmaz","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology, Izmir Faculty of Medicine, University of Health Sciences, 35210 Izmir, Turkey"},{"name":"Department of Pediatrics, Division of Pediatric Endocrinology, Dr. Beh\u00e7et Uz Pediatric Diseases and Surgery Training and Research Hospital, 35210 Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1089\/thy.2020.0333","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":"Stoupa","year":"2021","journal-title":"Thyroid Off. J. Am. Thyroid Assoc."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1097\/MED.0000000000000520","article-title":"Update on congenital hypothyroidism","volume":"27","author":"Cherella","year":"2020","journal-title":"Curr. Opin. Endocrinol. Diabetes Obes."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.clp.2017.10.004","article-title":"Congenital Hypothyroidism","volume":"45","author":"Wassner","year":"2018","journal-title":"Clin. Perinatol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"R297","DOI":"10.1530\/EJE-18-0383","article-title":"DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: Update and perspectives","volume":"179","author":"Peters","year":"2018","journal-title":"Eur. J. Endocrinol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1210\/jc.2013-1891","article-title":"European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism","volume":"99","author":"Olivieri","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1159\/000369394","article-title":"Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening","volume":"83","author":"Olivieri","year":"2015","journal-title":"Horm. Res. Paediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.beem.2013.05.008","article-title":"Screening for congenital hypothyroidism: A worldwide view of strategies","volume":"28","author":"Ford","year":"2014","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1111\/j.1365-2265.2011.04128.x","article-title":"The increased incidence of congenital hypothyroidism: Fact or fancy?","volume":"75","author":"Mitchell","year":"2011","journal-title":"Clin. Endocrinol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"73","DOI":"10.4274\/Jcrpe.929","article-title":"Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey","volume":"5","author":"Dilli","year":"2013","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"170","DOI":"10.4274\/jcrpe.2345","article-title":"Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course","volume":"8","author":"Kara","year":"2016","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/BF00442737","article-title":"Finnish national screening for hypothyroidism. Few false positives, early therapy","volume":"143","author":"Virtanen","year":"1984","journal-title":"Eur. J. Pediatr."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1210\/jc.2012-3273","article-title":"Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: Data from the Italian National Registry of infants with congenital hypothyroidism","volume":"98","author":"Olivieri","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Gorini, F., Coi, A., Pierini, A., Assanta, N., Bottoni, A., and Santoro, M. (2024). Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects. Children, 11.","DOI":"10.3390\/children11050513"},{"key":"ref_14","first-page":"200","article-title":"Genetics of Primary Congenital Hypothyroidism","volume":"15","year":"2018","journal-title":"Pediatr. Endocrinol. Rev. PER"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s42000-020-00267-x","article-title":"Genetics of primary congenital hypothyroidism\u2014A review","volume":"20","author":"Kostopoulou","year":"2021","journal-title":"Hormones"},{"key":"ref_16","first-page":"801","article-title":"Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates","volume":"29","author":"Deeb","year":"2016","journal-title":"J. Pediatr. Endocrinol. Metab. JPEM"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"169","DOI":"10.6065\/apem.2018.23.4.169","article-title":"Clinical Genetics of Defects in Thyroid Hormone Synthesis","volume":"23","author":"Kwak","year":"2018","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1159\/000363156","article-title":"Clinical genetics of congenital hypothyroidism","volume":"26","author":"Szinnai","year":"2014","journal-title":"Endocr. Dev."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1530\/EJE-11-0461","article-title":"Ectopic thyroid tissue: Anatomical, clinical, and surgical implications of a rare entity","volume":"165","author":"Noussios","year":"2011","journal-title":"Eur. J. Endocrinol."},{"key":"ref_20","first-page":"1024","article-title":"Transcription factor Gli-similar 3 (GLIS3): Implications for the development of congenital hypothyroidism","volume":"2","author":"ZeRuth","year":"2014","journal-title":"J. Endocrinol. Diabetes Obes."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1089\/105072503768499671","article-title":"An outline of inherited disorders of the thyroid hormone generating system","volume":"13","author":"Knobel","year":"2003","journal-title":"Thyroid"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.mce.2010.01.009","article-title":"Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations","volume":"322","author":"Targovnik","year":"2010","journal-title":"Mol. Cell Endocrinol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1210\/jc.2008-1938","article-title":"Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community","volume":"94","author":"Grasberger","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1089\/thy.2014.0311","article-title":"Long-term outcome of loss-of-function mutations in thyrotropin receptor gene","volume":"25","author":"Almashanu","year":"2015","journal-title":"Thyroid"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1007\/s40618-015-0382-8","article-title":"Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism","volume":"38","author":"Fu","year":"2015","journal-title":"J. Endocrinol. Investig."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Miranzadeh-Mahabadi, H., Emadi-Baygi, M., Nikpour, P., Mostofizade, N., Hovsepian, S., and Hashemipour, M. (2016). Analysis of the T354P mutation of the sodium\/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis. Adv. Biomed. Res., 5.","DOI":"10.4103\/2277-9175.180642"},{"key":"ref_27","first-page":"4123","article-title":"High prevalence of T354P sodium\/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures","volume":"83","author":"Kosugi","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"e010719","DOI":"10.1136\/bmjopen-2015-010719","article-title":"Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism","volume":"6","author":"Fu","year":"2016","journal-title":"BMJ Open"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1590\/2359-3997000000108","article-title":"Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism","volume":"60","author":"Fu","year":"2016","journal-title":"Arch. Endocrinol. Metab."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/jhg.2016.62","article-title":"Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability","volume":"61","author":"Mittal","year":"2016","journal-title":"J. Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"4516","DOI":"10.1210\/en.2016-1549","article-title":"A Nonradioactive DEHAL Assay for Testing Substrates, Inhibitors, and Monitoring Endogenous Activity","volume":"157","author":"Renko","year":"2016","journal-title":"Endocrinology"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000343695","article-title":"Thyroid hormone transporters and resistance","volume":"Volume 24","author":"Visser","year":"2013","journal-title":"Endocrine Development"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1136\/jmedgenet-2014-102936","article-title":"Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor \u03b1 gene (THRA)","volume":"52","author":"Steehouwer","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_34","first-page":"1","article-title":"Molecular aspects of thyroid hormone transporters, including MCT8, MCT10, and OATPs, and the effects of genetic variation in these transporters","volume":"44","author":"Peeters","year":"2010","journal-title":"J. Mol. Endocrinol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1159\/000443958","article-title":"Congenital Hypothyroidism: Long-Term Experience with Early and High Levothyroxine Dosage","volume":"85","author":"Uyttendaele","year":"2016","journal-title":"Horm. Res. Paediatr."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/978-1-4684-5973-9_6","article-title":"Maternal thyroid hormones during pregnancy: Effects on the fetus in congenital hypothyroidism and in iodine deficiency","volume":"299","author":"Calvo","year":"1991","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1210\/er.2018-00119","article-title":"Interferences with Thyroid Function Immunoassays: Clinical Implications and Detection Algorithm","volume":"39","author":"Favresse","year":"2018","journal-title":"Endocr. Rev."},{"key":"ref_38","first-page":"197","article-title":"Congenital hypothyroidism in Turkey: A retrospective evaluation of 1000 cases","volume":"34","author":"Tarim","year":"1992","journal-title":"Turk. J. Pediatr."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s40272-017-0238-0","article-title":"Pediatric Hypothyroidism: Diagnosis and Treatment","volume":"19","author":"Wassner","year":"2017","journal-title":"Paediatr. Drugs"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4428","DOI":"10.1210\/jc.2018-00362","article-title":"Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables","volume":"103","author":"Oron","year":"2018","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_41","first-page":"315","article-title":"Evaluation of the developmental outcome in children with congenital hypothyroidism","volume":"12","author":"Ehsani","year":"2021","journal-title":"Casp. J. Intern. Med."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1177\/000992289503401002","article-title":"Thyroxine dose for congenital hypothyroidism","volume":"34","author":"Ehrlich","year":"1995","journal-title":"Clin. Pediatr."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1097\/01.med.0000152669.91427.73","article-title":"Congenital hypothyroidism: Treatment and outcome","volume":"12","author":"Rovet","year":"2005","journal-title":"Curr. Opin. Endocrinol."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/1\/55\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T10:22:27Z","timestamp":1759918947000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/1\/55"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,3]]},"references-count":43,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1]]}},"alternative-id":["children12010055"],"URL":"https:\/\/doi.org\/10.3390\/children12010055","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,3]]}}}