{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:45:18Z","timestamp":1784555118995,"version":"3.55.0"},"reference-count":46,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Newborn screening (NBS) for congenital hypothyroidism (CH) was introduced in Switzerland in 1977, which allowed for the preclinical, biochemical diagnosis. The aim of this study was to evaluate the prevalence of transient CH (tCH) in the canton of Zurich. In this analytical cohort study, all newborns born in the canton of Zurich, between the 1st of January 2000 and the 30st of June 2016, with a TSH value above 15 mU\/L (whole blood) were included. There were 115 cases out of 247,918 babies born during the study period. However, 23 cases had to be excluded due to missing data. The definite diagnosis was made after a thyroxine withdrawal at 2 years of age. The total prevalence of confirmed CH and the female to male ratio (f\/m) were 1:2695 and 2.17:1; for permanent CH (pCH), 1:3443 and 2.8:1; and for tCH, 1:12,396 and 1:1, respectively. The TSH value was significantly higher in pCH compared to tCH, at 130.3 (62.9\u2013171.9) and 36.4 (26.5\u201353.3) (median and interquartile range), respectively (p &lt; 0.001). The prevalences found for congenital hypothyroidism and its transient form are comparable to previous studies. TSH concentration at birth was predictive for the further course of the disease. Low birth weight correlated with a tCH, whereas low gestational age did not. The dominance of the female sex in congenital hypothyroidism is supported by a gender ratio of 2.17:1.<\/jats:p>","DOI":"10.3390\/ijms24032817","type":"journal-article","created":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T02:21:12Z","timestamp":1675304472000},"page":"2817","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Prevalence of Transient Hypothyroidism in Children Diagnosed with Congenital Hypothyroidism between 2000 and 2016"],"prefix":"10.3390","volume":"24","author":[{"given":"Sabrina","family":"Gm\u00fcr","sequence":"first","affiliation":[{"name":"Department of Endocrinology & Diabetology, University Children\u2019s Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9067-4356","authenticated-orcid":false,"given":"Daniel","family":"Konrad","sequence":"additional","affiliation":[{"name":"Department of Endocrinology & Diabetology, University Children\u2019s Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland"},{"name":"Children\u2019s Research Center, University Children\u2019s Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9674-8931","authenticated-orcid":false,"given":"Ralph","family":"Fingerhut","sequence":"additional","affiliation":[{"name":"Children\u2019s Research Center, University Children\u2019s Hospital Zurich, University of Zurich, CH-8032 Zurich, Switzerland"},{"name":"Swiss Newborn Screening Laboratory, University Children\u2019s Hospital, CH-8032 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"New England Congenital Hypothyroidism Collaborative (1981). Effects of Neonatal Screening for Hypothyroidism-Prevention of Mental-Retardation by Treatment Before Clinical Manifestation. Lancet, 2, 1095\u20131098.","DOI":"10.1016\/S0140-6736(81)91287-3"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S1084-2756(03)00115-5","article-title":"Screening for neonatal endocrinopathies: Rationale, methods and results","volume":"9","author":"Czernichow","year":"2004","journal-title":"Semin. Neonatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1542\/peds.105.3.515","article-title":"Psychoeducational outcome in children with early-treated congenital hypothyroidism","volume":"105","author":"Rovet","year":"2000","journal-title":"Pediatrics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/nrendo.2011.160","article-title":"Detection and treatment of congenital hypothyroidism","volume":"8","author":"Krude","year":"2012","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_5","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":"ref_6","doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics, Rose, S.R., Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown, R.S., Public Health Committee, Lawson Wilkins Pediatric Endocrine Society, Foley, T., Kaplowitz, P.B., Kaye, C.I., Sundararajan, S., and Varma, S.K. (2006). Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics, 117, 2290\u20132303.","DOI":"10.1542\/peds.2006-0915"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1750-1172-5-17","article-title":"Congenital hypothyroidism","volume":"5","author":"Rastogi","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_8","unstructured":"Sperling, M.A. (2008). Pediatric Endocrinology, Elsevier."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1651-2227.1978.tb16268.x","article-title":"Congenital hypothyroidism in Sweden incidence and age at diagnosis","volume":"67","author":"Alm","year":"1978","journal-title":"Acta Paediatr. Scand."},{"key":"ref_10","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_11","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1210\/endo-114-2-677","article-title":"Ontogenesis of the nuclear 3, 5, 3\u2032-triiodothyronine receptor in the human fetal brain","volume":"114","author":"Bernal","year":"1984","journal-title":"Endocrinology"},{"key":"ref_12","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":"ref_13","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.jpeds.2009.12.051","article-title":"Time trend and geographic distribution of treated patients with congenital hypothyroidism relative to the number of available endocrinologists in Japan","volume":"157","author":"Gu","year":"2010","journal-title":"J. Pediatr."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ymgme.2007.03.012","article-title":"Increase in congenital hypothyroidism in New York State and in the United States","volume":"91","author":"Harris","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"ref_15","first-page":"735","article-title":"Congenital hypothyroidism: A review of the risk factors","volume":"50","author":"Dalili","year":"2012","journal-title":"Acta Med. Iran."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"37","DOI":"10.4103\/2277-9175.100130","article-title":"High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?","volume":"1","author":"Hashemipour","year":"2012","journal-title":"Adv. Biomed. Res."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/BF03345563","article-title":"Transient congenital hypothyroidism in an iodine-replete area is not related to parental consanguinity, mode of delivery, goitrogens, iodine exposure, or thyrotropin receptor autoantibodies","volume":"31","author":"Ordookhani","year":"2008","journal-title":"J. Endocrinol. Investig."},{"key":"ref_18","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":"ref_19","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1089\/thy.2005.15.917","article-title":"The effects of iodine deficiency on thyroid hormone deiodination","volume":"15","author":"Obregon","year":"2005","journal-title":"Thyroid"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"e237930","DOI":"10.1136\/bcr-2020-237930","article-title":"Unusual cause of congenital hypothyroidism in a term infant","volume":"14","author":"Vlaardingerbroek","year":"2021","journal-title":"BMJ Case Rep."},{"key":"ref_21","first-page":"147","article-title":"Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies","volume":"81","author":"Brown","year":"1996","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_22","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":"ref_23","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1530\/EC-17-0289","article-title":"The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH","volume":"6","author":"Fu","year":"2017","journal-title":"Endocr. Connect."},{"key":"ref_24","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":"ref_25","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":"ref_26","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1530\/EJE-11-0653","article-title":"Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper","volume":"166","author":"Adachi","year":"2012","journal-title":"Eur. J. Endocrinol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1210\/endo.143.6.8864","article-title":"Perspective: Genetic defects in the etiology of congenital hypothyroidism","volume":"143","author":"Kopp","year":"2002","journal-title":"Endocrinology"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Mass Screening Committee, Japanese Society for Pediatric Endocrinology, Japanese Society for Mass Screening, Nagasaki, K., Minamitani, K., Anzo, M., Adachi, M., Ishii, T., Onigata, K., and Kusuda, S. (2015). Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision). Clin. Pediatr. Endocrinol., 24, 107\u2013133.","DOI":"10.1297\/cpe.24.107"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"E1838","DOI":"10.1210\/jc.2011-1573","article-title":"Molecular basis of thyroid dyshormonogenesis: Genetic screening in population-based Japanese patients","volume":"96","author":"Narumi","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_30","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":"Peditr. Investig."},{"key":"ref_31","unstructured":"(2022, November 08). Geburten und Todesf\u00e4lle. Available online: https:\/\/www.bfs.admin.ch\/bfs\/de\/home\/statistiken\/bevoelkerung\/geburten-todesfaelle.html."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1089\/thy.2020.0333","article-title":"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","volume":"31","author":"Stoupa","year":"2021","journal-title":"Thyroid"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<29::AID-AJMG5>3.0.CO;2-L","article-title":"Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979\u20131992","volume":"71","author":"Roberts","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_34","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_35","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1515\/JPEM.2005.18.5.453","article-title":"High prevalence of congenital hypothyroidism in the Greek Cypriot population: Results of the neonatal screening program 1990\u20132000","volume":"18","author":"Skordis","year":"2005","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_36","first-page":"34","article-title":"Screening for congenital hypothyroidism in Tehran: The effect of iodine deficiency on transient elevation of TSH in neonates","volume":"18","author":"Azizi","year":"1993","journal-title":"J. Fac. Med. Shaheed Beheshti Univ. Med. Sci."},{"key":"ref_37","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":"ref_38","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1515\/JPEM.2008.21.10.1011","article-title":"Detection of circulating autoantibodies against thyroid hormones in an infant with permanent congenital hypothyroidism and her twin with transient congenital hypothyroidism: Possible contribution of thyroid hormone autoantibodies to neonatal and infant hypothyroidism","volume":"21","author":"Benvenga","year":"2008","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2009","DOI":"10.1210\/jcem.86.5.7501","article-title":"Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors","volume":"86","author":"Castanet","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_40","first-page":"257","article-title":"The thyroid as a model for molecular mechanisms in genetic diseases","volume":"65","author":"Rivolta","year":"2005","journal-title":"Medicina"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2422","DOI":"10.1210\/jc.2011-1073","article-title":"Is the incidence of congenital hypothyroidism relly increasing? A 20-year retrospective population-based study in Qu\u00e9bec","volume":"96","author":"Ruel","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Hijman, A.I., Konrad, D., and Fingerhut, R. (2020). Determining Reference Ranges for Total T4 in Dried Blood Samples for Newborn Screening. Int. J. Neonatal. Screen., 6.","DOI":"10.3390\/ijns6010017"},{"key":"ref_43","unstructured":"(2022, October 05). Willkommen Beim Analysenauskunfts-System des Zentrums f\u00fcr P\u00e4diatrische Labormedizin des Universit\u00e4ts-Kinderspitals Z\u00fcrich. Available online: https:\/\/kispiportal.uzh.ch\/analyseauskunft\/default.aspx."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"5","DOI":"10.11613\/BM.2016.001","article-title":"Reference intervals: Current status, recent developments and future considerations","volume":"26","author":"Ozarda","year":"2016","journal-title":"Biochem. Med."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S0022-3476(98)70487-1","article-title":"Follow-up of newborns with low thyroxine and nonelevated thyroid-stimulating hormone\u2013screening concentrations: Results of the 20-year experience in the Northwest Regional Newborn Screening Program","volume":"132","author":"Hunter","year":"1998","journal-title":"J. Pediatr."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e3464","DOI":"10.1210\/clinem\/dgaa454","article-title":"Unraveling the Genetics of Congenital Hypothyroidism: Challenges and Opportunities","volume":"105","author":"Wassner","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/3\/2817\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:21:24Z","timestamp":1760120484000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/3\/2817"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,1]]},"references-count":46,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,2]]}},"alternative-id":["ijms24032817"],"URL":"https:\/\/doi.org\/10.3390\/ijms24032817","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,1]]}}}