{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:45:16Z","timestamp":1784555116298,"version":"3.55.0"},"reference-count":32,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2021,11,27]],"date-time":"2021-11-27T00:00:00Z","timestamp":1637971200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: The incidence of congenital hypothyroidism (CH) has increased over the years, and many predictors for detecting newborns with transient forms (TCH) as early as possible have been considered. Methods: All newborns diagnosed with primary CH and eutopic gland in the Piedmont region of Italy in the period of January 2014\u2013June 2019 were enrolled and re-evaluated at the age of 2 years. Results: 105 newborns were diagnosed with CH during the study period. Dyshormonogenesis was observed in 55\/105. At re-evaluation, we found that 52.7% had permanent CH (PCH), while 47.3% had TCH. Male\/female rate, TSH levels at diagnosis, levothyroxine requirement at withdrawal and extra-thyroid congenital malformations rate were higher in the PCH group (p = 0.02, p = 0.009, p = 0.02 and p = 0.01), while fT4 levels at diagnosis were lower (p = 0.03). Sensitivity of 72.4% and specificity of 80.7% for serum TSH above 60 mcUI\/mL, sensitivity of 73% and specificity of 72.4% for serum fT4 level below 7.2 pg\/mL and sensitivity of 66% and specificity of 68% for drug requirement above 2.25 mcg\/kg\/day were observed in PCH. Conclusions: Demographic, clinical and hormonal data at diagnosis and levothyroxine requirement during the first two years should be adequately monitored to identify infants who are most likely to discontinue therapy after the age of 24 months.<\/jats:p>","DOI":"10.3390\/jcm10235583","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T01:43:22Z","timestamp":1638323002000},"page":"5583","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Diagnostic Re-Evaluation and Potential Predictor Factors of Transient and Permanent Congenital Hypothyroidism in Eutopic Thyroid Gland"],"prefix":"10.3390","volume":"10","author":[{"given":"Gerdi","family":"Tuli","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Regina Margherita Children\u2019s Hospital, City of Health and Science University Hospital of Turin, 10126 Turin, Italy"},{"name":"Department of Public Health and Pediatric Sciences, University of Turin, 10124 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Munarin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Regina Margherita Children\u2019s Hospital, City of Health and Science University Hospital of Turin, 10126 Turin, Italy"},{"name":"Department of Public Health and Pediatric Sciences, University of Turin, 10124 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"De Sanctis","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Regina Margherita Children\u2019s Hospital, City of Health and Science University Hospital of Turin, 10126 Turin, Italy"},{"name":"Department of Public Health and Pediatric Sciences, University of Turin, 10124 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1007\/s12020-020-02370-w","article-title":"Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations","volume":"71","author":"Tuli","year":"2021","journal-title":"Endocrine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1089\/thy.2020.0333","article-title":"Congenital Hypothyroidism: A 2020\u20132021 Consensus Guidelines Update\u2014An 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_3","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1007\/s13312-010-0115-1","article-title":"Diagnostic re-evaluation of children with congenital hypothyroidism","volume":"47","author":"Nair","year":"2010","journal-title":"Indian Pediatr."},{"key":"ref_4","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":"ref_5","doi-asserted-by":"crossref","first-page":"141","DOI":"10.6065\/apem.2014.19.3.141","article-title":"Earlier re-evaluation may be possible in pediatric patients with eutopic congenital hypothyroidism requiring lower L-thyroxine doses","volume":"19","author":"Cho","year":"2014","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1159\/000435811","article-title":"Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland","volume":"84","author":"Messina","year":"2015","journal-title":"Horm. Res. Paediatr."},{"key":"ref_7","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_8","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":"ref_9","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_10","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_11","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_12","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1297\/cpe.28.127","article-title":"Levothyroxine dosages less than 2.4 \u03bcg\/kg\/day at 1 year and 1.3 \u03bcg\/kg\/day at 3 years of age may predict transient congenital hypothyroidism","volume":"28","author":"Higuchi","year":"2019","journal-title":"Clin. Pediatr. Endocrinol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12887-019-1833-8","article-title":"Factors associated with permanent hypothyroidism in infants with congenital hypothyroidism","volume":"19","author":"Park","year":"2019","journal-title":"BMC Pediatr."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"275","DOI":"10.4274\/jcrpe.galenos.2020.2019.0170","article-title":"Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism","volume":"12","author":"Asena","year":"2020","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2020\/6808517","article-title":"Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data","volume":"2020","author":"Long","year":"2020","journal-title":"Int. J. Endocrinol."},{"key":"ref_16","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":"ref_17","doi-asserted-by":"crossref","unstructured":"Nagasaki, K., Sato, H., Sasaki, S., Nyuzuki, H., Shibata, N., Sawano, K., Hiroshima, S., and Asami, T. (2021). Re-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020027"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13044-021-00103-3","article-title":"Risk factors for transient and permanent congenital hypothyroidism: A population-based case-control study","volume":"14","author":"Abbasi","year":"2021","journal-title":"Thyroid Res."},{"key":"ref_19","first-page":"2401","article-title":"Predictors of transient congenital primary hypothyroidism: Data from the German registry for congenital hypothyroidism (AQUAPE \u201cHypoDok\u201d)","volume":"180","author":"Matejek","year":"2021","journal-title":"Eur. J. Nucl. Med. Mol. Imaging"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s12020-021-02641-0","article-title":"Development of a risk prediction model for early discrimination between permanent and transient congenital hypothyroidism","volume":"73","author":"Mehran","year":"2021","journal-title":"Endocrine"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1297\/cpe.29.143","article-title":"Increase in doses of levothyroxine at the age of 3 years and above is useful for distinguishing transient and permanent congenital hypothyroidism","volume":"29","author":"Yamamura","year":"2020","journal-title":"Clin. Pediatr. Endocrinol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.jpeds.2020.05.005","article-title":"Treatment Discontinuation within 3 Years of Levothyroxine Initiation among Children Diagnosed with Congenital Hypothyroidism","volume":"223","author":"Kemper","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1159\/000502418","article-title":"Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan","volume":"92","author":"Itonaga","year":"2019","journal-title":"Horm. Res. Paediatr."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.jpeds.2012.06.050","article-title":"Transient Hypothyroidism at 3-Year Follow-Up among Cases of Congenital Hypothyroidism Detected by Newborn Screening","volume":"162","author":"Korzeniewski","year":"2013","journal-title":"J. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1258\/jms.2009.008090","article-title":"Permanent and transient congenital hypothyroidism in Isfahan\u2013Iran","volume":"16","author":"Hashemipour","year":"2009","journal-title":"J. Med. Screen."},{"key":"ref_26","first-page":"384","article-title":"Monitoring and prognostic evaluation of patients with congenital hypothyroidism treated in a pediatric endocrinology unit","volume":"55","author":"Demir","year":"2013","journal-title":"Turk. J. Pediatr."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"170","DOI":"10.4274\/Jcrpe.931","article-title":"The Role of Initial Clinical and Laboratory Findings in Infants With Hyperthyrotropinemia to Predict Transient or Permanent Hypothyroidism","volume":"5","author":"Demir","year":"2013","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.jpeds.2016.04.011","article-title":"Can One Predict Resolution of Neonatal Hyperthyrotropinemia?","volume":"174","author":"Aguiar","year":"2016","journal-title":"J. Pediatr."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Razavi, Z., and Mohammadi, L. (2016). Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. Int. J. Endocrinol. Metab., 14.","DOI":"10.5812\/ijem.38256"},{"key":"ref_30","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_31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12887-021-02729-6","article-title":"Prevalence and predictive factors of transient and permanent congenital hypothyroidism in Fars province, Iran","volume":"21","author":"Habib","year":"2021","journal-title":"BMC Pediatr."},{"key":"ref_32","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."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/23\/5583\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:36:43Z","timestamp":1760168203000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/23\/5583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,27]]},"references-count":32,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["jcm10235583"],"URL":"https:\/\/doi.org\/10.3390\/jcm10235583","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,27]]}}}