{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:43:29Z","timestamp":1787849009621,"version":"build-2784847793"},"reference-count":85,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T00:00:00Z","timestamp":1771286400000},"content-version":"vor","delay-in-days":214,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Primary congenital hypothyroidism (CH) is the most common endocrinopathy of developmental age. In recent years, several studies from different countries have reported a significant increase in CH incidence detected by newborn screening programs, primarily \u2018mild\u2019 forms of CH with gland in situ (GIS). However, more than one-third of affected children with GIS present transient CH and recover endogenous thyroid function in early childhood, permitting the cessation of levothyroxine treatment by the end of the third year of life. Therefore, in CH patients with GIS, a clinical and biochemical reassessment is needed to determine whether the hypothyroidism is transient or permanent and to search for the underlying causes of the thyroid defect. Despite the presence of consensus guidelines for the management of CH in pediatric age, the screening strategy and management of the disease, especially at re-evaluation, differ significantly between centers and present some points of discussion. The following review summarizes the main pathophysiological mechanisms of transient and permanent forms of CH, also underlining the importance of new genetic tools in order to guarantee each patient the best diagnostic and therapeutic approach.<\/jats:p>","DOI":"10.1530\/etj-25-0019","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T10:11:01Z","timestamp":1753092661000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-17","source":"Crossref","is-referenced-by-count":7,"title":["50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Transient or permanent congenital hypothyroidism: from milestones to current and future perspectives"],"prefix":"10.1530","volume":"14","author":[{"given":"Gaia","family":"Vincenzi","sequence":"first","affiliation":[{"name":"IRCCS Ospedale San Raffaele, Department of Paediatrics Milano , ,","place":["Lombardia, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilenia Teresa","family":"Petralia","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale San Raffaele, Department of Paediatrics Milano , ,","place":["Lombardia, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Abbate","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale San Raffaele, Department of Paediatrics Milano , ,","place":["Lombardia, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5969-9712","authenticated-orcid":true,"given":"Maria Cristina","family":"Vigone","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale San Raffaele, Department of Paediatrics Milano , ,","place":["Lombardia, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2025,7,18]]},"reference":[{"key":"2026070712543618500_bib1","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":"2026070712543618500_bib2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3390\/ijns7020027","article-title":"Re-evaluation of the prevalence of permanent congenital hypothyroidism in Niigata, Japan: a retrospective study","volume":"7","author":"Nagasaki","year":"2021","journal-title":"Int J Neonatal Screen"},{"key":"2026070712543618500_bib3","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1159\/000488288","article-title":"Permanent decompensated congenital hypothyroidism in newborns with whole-blood thyroid-stimulating hormone concentrations between 8 and 10 mU\/L: the case for lowering the threshold","volume":"89","author":"McGrath","year":"2018","journal-title":"Horm Res Paediatr"},{"key":"2026070712543618500_bib4","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1515\/jpem-2020-0733","article-title":"Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China","volume":"34","author":"Chen","year":"2021","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2026070712543618500_bib5","doi-asserted-by":"crossref","first-page":"5583","DOI":"10.3390\/jcm10235583","article-title":"Diagnostic re-evaluation and potential predictor factors of transient and permanent congenital hypothyroidism in eutopic thyroid gland","volume":"10","author":"Tuli","year":"2021","journal-title":"J Clin Med"},{"key":"2026070712543618500_bib6","doi-asserted-by":"crossref","first-page":"E338","DOI":"10.1210\/clinem\/dgaa789","article-title":"Newborn screening for congenital hypothyroidism: the benefit of using differential TSH cutoffs in a 2-screen program","volume":"106","author":"Caiulo","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070712543618500_bib7","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":"2026070712543618500_bib8","doi-asserted-by":"crossref","first-page":"2959","DOI":"10.1210\/jc.2011-1175","article-title":"Approach to the diagnosis and treatment of neonatal hypothyroidism","volume":"96","author":"LaFranchi","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070712543618500_bib9","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-5-17","article-title":"Congenital hypothyroidism","volume":"5","author":"Rastogi","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"2026070712543618500_bib10","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":"2026070712543618500_bib11","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1210\/jc.2012-3174","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","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070712543618500_bib12","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1111\/j.1365-2265.2005.02239.x","article-title":"Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study","volume":"62","author":"Gaudino","year":"2005","journal-title":"Clin Endocrinol"},{"key":"2026070712543618500_bib13","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1530\/EJE-21-1278","article-title":"Mechanisms in endocrinology: the pathophysiology of transient congenital hypothyroidism","volume":"187","author":"Peters","year":"2022","journal-title":"Eur J Endocrinol"},{"key":"2026070712543618500_bib14","doi-asserted-by":"crossref","first-page":"5314","DOI":"10.1210\/jc.2004-0869","article-title":"Developmental trends in cord and postpartum serum thyroid hormones in preterm infants","volume":"89","author":"Williams","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070712543618500_bib15","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.tem.2011.02.002","article-title":"Delivery of maternal thyroid hormones to the fetus","volume":"22","author":"Patel","year":"2011","journal-title":"Trends Endocrinol Metabol"},{"key":"2026070712543618500_bib16","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2021.666207","article-title":"Thyroid function in preterm\/low birth weight infants: impact on diagnosis and management of thyroid dysfunction","volume":"12","author":"LaFranchi","year":"2021","journal-title":"Front Endocrinol"},{"key":"2026070712543618500_bib17","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1258\/jms.2009.008090","article-title":"Permanent and transient congenital hypothyroidism in Isfahan-Iran","volume":"16","author":"Hashemipour","year":"2009","journal-title":"J Med Screen"},{"key":"2026070712543618500_bib18","doi-asserted-by":"crossref","DOI":"10.1016\/j.amsu.2021.103083","article-title":"Prevalence of transient congenital hypothyroidism among neonates","volume":"72","author":"Alavi","year":"2021","journal-title":"Ann Med Surg"},{"key":"2026070712543618500_bib19","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/nyas.14041","article-title":"Excess iodine intake: sources, assessment, and effects on thyroid function","volume":"1446","author":"Farebrother","year":"2019","journal-title":"Ann N Y Acad Sci"},{"key":"2026070712543618500_bib20","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.860862","article-title":"Congenital hypothyroidism in preterm newborns \u2013 the challenges of diagnostics and treatment: a review","volume":"13","author":"Klosinska","year":"2022","journal-title":"Front Endocrinol"},{"key":"2026070712543618500_bib21","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1016\/j.jpeds.2013.12.048","article-title":"Evolution of thyroid function in preterm infants detected by screening for congenital hypothyroidism","volume":"164","author":"Vigone","year":"2014","journal-title":"J Pediatr"},{"key":"2026070712543618500_bib22","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1111\/cen.14481","article-title":"Thyroid function and dysfunction in preterm infants \u2013 challenges in evaluation, diagnosis and therapy","volume":"95","author":"Zdraveska","year":"2021","journal-title":"Clin Endocrinol"},{"key":"2026070712543618500_bib23","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1038\/s41574-024-00983-z","article-title":"Thyroid function and iodine intake: global recommendations and relevant dietary trends","volume":"20","author":"Bath","year":"2024","journal-title":"Nat Rev Endocrinol"},{"key":"2026070712543618500_bib24","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1089\/thy.1994.4.107","article-title":"The disorders induced by iodine deficiency","volume":"4","author":"Delange","year":"1994","journal-title":"Thyroid"},{"key":"2026070712543618500_bib25","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1089\/thy.1998.8.1185","article-title":"Screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency and of its control","volume":"8","author":"Delange","year":"1998","journal-title":"Thyroid"},{"key":"2026070712543618500_bib26","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/j.1442-200X.2007.02297.x","article-title":"Increased incidence of congenital hypothyroidism due to iodine deficiency","volume":"49","author":"Sa\u01e7lam","year":"2007","journal-title":"Pediatr Int"},{"key":"2026070712543618500_bib27","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1089\/thy.2016.0457","article-title":"2017 guidelines of the American Thyroid Association for the diagnosis and management of thyroid disease during pregnancy and the postpartum","volume":"27","author":"Alexander","year":"2017","journal-title":"Thyroid"},{"key":"2026070712543618500_bib28","doi-asserted-by":"crossref","DOI":"10.1016\/j.beem.2020.101430","article-title":"Iodine status and supplementation before, during, and after pregnancy","volume":"34","author":"Rodriguez-Diaz","year":"2020","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"2026070712543618500_bib29","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/nrendo.2013.251","article-title":"Consequences of excess iodine","volume":"10","author":"Leung","year":"2014","journal-title":"Nat Rev Endocrinol"},{"key":"2026070712543618500_bib30","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1089\/105072501300176462","article-title":"Iodine-induced hypothyroidism","volume":"11","author":"Markou","year":"2001","journal-title":"Thyroid"},{"key":"2026070712543618500_bib31","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1586\/eem.10.40","article-title":"Role of iodine in thyroid physiology","volume":"5","author":"Leung","year":"2010","journal-title":"Expert Rev Endocrinol Metab"},{"key":"2026070712543618500_bib32","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1530\/EJE-20-0627","article-title":"Iodine contrast prior to or during pregnancy and neonatal thyroid function: a systematic review","volume":"184","author":"van Welie","year":"2021","journal-title":"Eur J Endocrinol"},{"key":"2026070712543618500_bib33","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1210\/jc.2014-3292","article-title":"A review: radiographic iodinated contrast media-induced thyroid dysfunction","volume":"100","author":"Lee","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070712543618500_bib34","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1210\/js.2017-00174","article-title":"Hypothyroidism in infants with congenital heart disease exposed to excess iodine","volume":"1","author":"Thaker","year":"2017","journal-title":"J Endocr Soc"},{"key":"2026070712543618500_bib35","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1007\/PL00000941","article-title":"The TSH receptor and its role in thyroid disease","volume":"58","author":"Kopp","year":"2001","journal-title":"Cell Mol Life Sci"},{"key":"2026070712543618500_bib36","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.autrev.2009.03.012","article-title":"TSH receptor autoantibodies","volume":"9","author":"Michalek","year":"2009","journal-title":"Autoimmun Rev"},{"key":"2026070712543618500_bib37","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1258\/acb.2011.011007","article-title":"Transient congenital hypothyroidism due to thyroid-stimulating hormone receptor blocking antibodies: a case series","volume":"48","author":"Evans","year":"2011","journal-title":"Ann Clin Biochem"},{"key":"2026070712543618500_bib38","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000509015","article-title":"Congenital hypothyroidism due to a low level of maternal thyrotropin receptor-blocking antibodies","volume":"10","author":"Castellnou","year":"2021","journal-title":"Eur Thyroid J"},{"key":"2026070712543618500_bib39","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1055\/a-0723-9023","article-title":"Thyrotropin receptor blocking antibodies","volume":"50","author":"Diana","year":"2018","journal-title":"Horm Metab Res"},{"key":"2026070712543618500_bib40","doi-asserted-by":"crossref","DOI":"10.1530\/ETJ-23-0012","article-title":"Unusual causes of hyperthyrotropinemia and differential diagnosis of primary hypothyroidism: a revised diagnostic flowchart","volume":"12","author":"Campi","year":"2023","journal-title":"Eur Thyroid J"},{"key":"2026070712543618500_bib41","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.3399\/096016407782604802","article-title":"On the diagnosis of subclinical hypothyroidism","volume":"57","author":"Ismail Adel","year":"2007","journal-title":"Br J Gen Pract"},{"key":"2026070712543618500_bib42","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1111\/cen.12643","article-title":"Macro TSH in patients with subclinical hypothyroidism","volume":"83","author":"Hattori","year":"2015","journal-title":"Clin Endocrinol"},{"key":"2026070712543618500_bib43","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1089\/thy.2022.0457","article-title":"Prevalence and pathogenesis of macro-thyrotropin in neonates: analysis of umbilical cord blood from 939 neonates and their mothers","volume":"33","author":"Hattori","year":"2023","journal-title":"Thyroid"},{"key":"2026070712543618500_bib44","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":"2026070712543618500_bib45","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1055\/s-0041-1729143","article-title":"Excessive prenatal supplementation of iodine and fetal goiter: report of two cases using three-dimensional ultrasound and magnetic resonance imaging","volume":"43","author":"Castro","year":"2021","journal-title":"Rev Bras Ginecol Obstet"},{"key":"2026070712543618500_bib46","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1056\/NEJM198607033150104","article-title":"Antithyroid drug therapy for Graves\u2019 disease during pregnancy. Optimal regimen for fetal thyroid status","volume":"315","author":"Momotani","year":"1986","journal-title":"N Engl J Med"},{"key":"2026070712543618500_bib47","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1210\/jcem-62-1-217","article-title":"Pharmacology of propylthiouracil (PTU) in pregnant hyperthyroid women: correlation of maternal PTU concentrations with cord serum thyroid function tests","volume":"62","author":"Gardner","year":"1986","journal-title":"JCEM"},{"key":"2026070712543618500_bib48","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1159\/000509324","article-title":"Dose-dependent influence of antithyroid drugs on the difference in free thyroxine levels between mothers with Graves\u2019 hyperthyroidism and their neonates","volume":"10","author":"Iwaki","year":"2021","journal-title":"Eur Thyroid J"},{"key":"2026070712543618500_bib49","doi-asserted-by":"crossref","DOI":"10.1016\/j.beem.2020.101437","article-title":"Management of neonates born to mothers with thyroid dysfunction, and points for attention during pregnancy","volume":"34","author":"van Trotsenburg","year":"2020","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"2026070712543618500_bib50","first-page":"24","article-title":"Neonatal thyroid disorders","volume":"59","author":"Gr\u00fcters","year":"2003","journal-title":"Horm Res"},{"key":"2026070712543618500_bib51","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s00431-003-1359-8","article-title":"Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants","volume":"163","author":"Filippi","year":"2004","journal-title":"Eur J Pediatr"},{"key":"2026070712543618500_bib52","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1093\/tropej\/fmv007","article-title":"Undiagnosed congenital hypothyroidism in a newborn treated with dopamine infusion","volume":"61","author":"Shi","year":"2015","journal-title":"J Trop Pediatr"},{"key":"2026070712543618500_bib53","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1097\/01.PCC.0000216680.22950.D9","article-title":"Dopamine infusion: a possible cause of undiagnosed congenital hypothyroidism in preterm infants","volume":"7","author":"Filippi","year":"2006","journal-title":"Pediatr Crit Care Med"},{"key":"2026070712543618500_bib54","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1093\/hmg\/ddx145","article-title":"A frequent oligogenic involvement in congenital hypothyroidism","volume":"26","author":"de Filippis","year":"2017","journal-title":"Hum Mol Genet"},{"key":"2026070712543618500_bib55","doi-asserted-by":"crossref","DOI":"10.1530\/ETJ-24-0348","article-title":"Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges","volume":"14","author":"Stoupa","year":"2025","journal-title":"Eur Thyroid J"},{"key":"2026070712543618500_bib56","doi-asserted-by":"crossref","first-page":"e779","DOI":"10.1210\/clinem\/dgad119","article-title":"The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted next-generation sequencing","volume":"108","author":"Levaillant","year":"2023","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070712543618500_bib57","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/ped4.12324","article-title":"Genetics of congenital hypothyroidism: modern concepts","volume":"6","author":"Stoupa","year":"2022","journal-title":"Pediatr Investig"},{"key":"2026070712543618500_bib58","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1515\/jpem-2015-0400","article-title":"High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism","volume":"29","author":"Matsuo","year":"2016","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2026070712543618500_bib59","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.21037\/atm-20-7165","article-title":"Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations","volume":"8","author":"Zheng","year":"2020","journal-title":"Ann Transl Med"},{"key":"2026070712543618500_bib60","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.cca.2016.04.019","article-title":"Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients","volume":"458","author":"Fu","year":"2016","journal-title":"Clin Chim Acta"},{"key":"2026070712543618500_bib61","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":"Tenenbaum-Rakover","year":"2015","journal-title":"Thyroid"},{"key":"2026070712543618500_bib62","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1056\/NEJM199501193320305","article-title":"Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene","volume":"332","author":"Sunthornthepvarakul","year":"1995","journal-title":"N Engl J Med"},{"key":"2026070712543618500_bib63","doi-asserted-by":"crossref","DOI":"10.1530\/ETJ-22-0212","article-title":"Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism","volume":"12","author":"Kara","year":"2023","journal-title":"Eur Thyroid J"},{"key":"2026070712543618500_bib64","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":"2026070712543618500_bib65","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1111\/cen.13387","article-title":"Mild TSH resistance: clinical and hormonal features in childhood and adulthood","volume":"87","author":"Vigone","year":"2017","journal-title":"Clin Endocrinol"},{"key":"2026070712543618500_bib66","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1089\/thy.2020.0333","article-title":"Congenital hypothyroidism: a 2020\u20132021 consensus guidelines update \u2013 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","journal-title":"Thyroid"},{"key":"2026070712543618500_bib67","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1089\/thy.2018.0154","article-title":"Early determinants of thyroid function outcomes in children with congenital hypothyroidism and a normally located thyroid gland: a regional cohort study","volume":"28","author":"Saba","year":"2018","journal-title":"Thyroid"},{"key":"2026070712543618500_bib68","first-page":"1","article-title":"Scintigraphic imaging of paediatric thyroid dysfunction","volume":"70","author":"Clerc","year":"2008","journal-title":"Horm Res"},{"key":"2026070712543618500_bib69","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.beem.2017.03.006","article-title":"Iodide handling disorders (NIS, TPO, TG, IYD)","volume":"31","author":"Targovnik","year":"2017","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"2026070712543618500_bib70","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":"2026070712543618500_bib71","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1111\/cen.12228","article-title":"Mild neonatal hyperthyrotrophinaemia: 10-year experience suggests the condition is increasingly common but often transient","volume":"79","author":"Oren","year":"2013","journal-title":"Clin Endocrinol"},{"key":"2026070712543618500_bib72","doi-asserted-by":"crossref","first-page":"F310","DOI":"10.1136\/archdischild-2012-302192","article-title":"Screening for congenital hypothyroidism in newborns transferred to neonatal intensive care","volume":"98","author":"Korzeniewski","year":"2013","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"2026070712543618500_bib73","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.pedneo.2017.01.002","article-title":"Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism","volume":"58","author":"Kang","year":"2017","journal-title":"Pediatr Neonatol"},{"key":"2026070712543618500_bib74","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1210\/clinem\/dgab798","article-title":"Transient vs permanent congenital hypothyroidism in Ontario, Canada: predictive factors and scoring system","volume":"107","author":"Marr","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070712543618500_bib75","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1159\/000443399","article-title":"Feasibility of an early discontinuation of thyroid hormone treatment in very-low-birth-weight infants at risk for transient or permanent congenital hypothyroidism","volume":"85","author":"Jung","year":"2016","journal-title":"Horm Res Paediatr"},{"key":"2026070712543618500_bib76","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000448658","article-title":"Transient versus permanent congenital hypothyroidism after the age of 3 years in infants detected on the first versus second newborn screening test in Oregon, USA","volume":"86","author":"Ford","year":"2016","journal-title":"Horm Res Paediatr"},{"key":"2026070712543618500_bib77","doi-asserted-by":"crossref","DOI":"10.5812\/ijem.38256","article-title":"Permanent and transient congenital hypothyroidism in Hamadan West Province of Iran","volume":"14","author":"Razavi","year":"2016","journal-title":"Int J Endocrinol Metab"},{"key":"2026070712543618500_bib78","doi-asserted-by":"crossref","first-page":"115","DOI":"10.6065\/apem.2017.22.2.115","article-title":"Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland","volume":"22","author":"Park","year":"2017","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"2026070712543618500_bib79","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1530\/EC-17-0332","article-title":"Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism","volume":"7","author":"Zdraveska","year":"2018","journal-title":"Endocr Connect"},{"key":"2026070712543618500_bib80","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1111\/j.1365-2265.2009.03568.x","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","journal-title":"Clin Endocrinol"},{"key":"2026070712543618500_bib81","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1111\/j.1365-2265.2009.03634.x","article-title":"Neonatal hyperthyrotropinemia: population characteristics, diagnosis, management and outcome after cessation of therapy","volume":"72","author":"Zung","year":"2010","journal-title":"Clin Endocrinol"},{"key":"2026070712543618500_bib82","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1016\/S2213-8587(16)30122-X","article-title":"Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study","volume":"4","author":"Lain","year":"2016","journal-title":"Lancet Diabetes Endocrinol"},{"key":"2026070712543618500_bib83","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1136\/bmj.289.6453.1171","article-title":"Incidence of congenital hypothyroidism: retrospective study of neonatal laboratory screening versus clinical symptoms as indicators leading to diagnosis","volume":"289","author":"Alm","year":"1984","journal-title":"Br Med J"},{"key":"2026070712543618500_bib84","first-page":"1079","article-title":"High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations","volume-title":"Thyroid","author":"Hishinuma","year":"2005"},{"key":"2026070712543618500_bib85","doi-asserted-by":"crossref","first-page":"R217","DOI":"10.1530\/ERC-21-0159","article-title":"Congenital hypothyroidism and thyroid cancer","volume":"28","author":"Penna","year":"2021","journal-title":"Endocr Relat Cancer"}],"container-title":["European Thyroid Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/etj.bioscientifica.com\/view\/journals\/etj\/14\/4\/ETJ-25-0019.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/etj.bioscientifica.com\/downloadpdf\/journals\/etj\/14\/4\/ETJ-25-0019.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/etj\/article-pdf\/doi\/10.1530\/ETJ-25-0019\/33480\/etj-25-0019.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/etj\/article-pdf\/doi\/10.1530\/ETJ-25-0019\/33480\/etj-25-0019.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:22:33Z","timestamp":1783444953000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.bioscientifica.com\/etj\/article\/14\/4\/e250019\/4517\/50-YEARS-OF-NEWBORN-SCREENING-FOR-CONGENITAL"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,18]]},"references-count":85,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8,1]]}},"URL":"https:\/\/doi.org\/10.1530\/etj-25-0019","relation":{},"ISSN":["2235-0802","2235-0640"],"issn-type":[{"value":"2235-0802","type":"electronic"},{"value":"2235-0640","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7,18]]},"article-number":"e250019"}}