{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:03:57Z","timestamp":1791821037132,"version":"4.3.4"},"reference-count":27,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T00:00:00Z","timestamp":1630281600000},"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>Introduction: Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect causing congenital hypothyroidism (CH). We aimed to characterize the long-term outcome of patients with TPO deficiency. Methods: Clinical and genetic data were collected retrospectively. Results: Thirty-three patients with primary CH caused by TPO deficiency were enrolled. The follow-up period was up to 43 years. Over time, 20 patients (61%) developed MNG. Eight patients (24%) underwent thyroidectomy: one of them had minimal invasive follicular thyroid carcinoma. No association was found between elevated lifetime TSH levels and the development of goiter over the years. Conclusions: This cohort represents the largest long-term follow up of patients with TPO deficiency. Our results indicate that elevated TSH alone cannot explain the high rate of goiter occurrence in patients with TPO deficiency, suggesting additional factors in goiter development. The high rate of MNG development and the risk for thyroid carcinoma indicate a need for long-term follow up with annual ultrasound scans.<\/jats:p>","DOI":"10.3390\/jcm10173898","type":"journal-article","created":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T22:49:51Z","timestamp":1630363791000},"page":"3898","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Long-Term Outcome of Patients with TPO Mutations"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2273-9474","authenticated-orcid":false,"given":"Leraz","family":"Tobias","sequence":"first","affiliation":[{"name":"Pediatric Department B, Ha\u2019Emek Medical Center, Afula 1834111, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghadir","family":"Elias-Assad","sequence":"additional","affiliation":[{"name":"Pediatric Endocrine Institute, Ha\u2019Emek Medical Center, Afula 1834111, Israel"},{"name":"Technion Institute of Technology, Rappaport Faculty of Medicine, Haifa 3200003, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morad","family":"Khayat","sequence":"additional","affiliation":[{"name":"Genetic Institute, Ha\u2019Emek Medical Center, Afula 1834111, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osnat","family":"Admoni","sequence":"additional","affiliation":[{"name":"Pediatric Endocrine Institute, Ha\u2019Emek Medical Center, Afula 1834111, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shlomo","family":"Almashanu","sequence":"additional","affiliation":[{"name":"The National Newborn Screening Program, Ministry of Health, Tel-Hashomer, Ramat Gan 5262100, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yardena","family":"Tenenbaum-Rakover","sequence":"additional","affiliation":[{"name":"Pediatric Endocrine Institute, Ha\u2019Emek Medical Center, Afula 1834111, Israel"},{"name":"Technion Institute of Technology, Rappaport Faculty of Medicine, Haifa 3200003, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/cen.12127","article-title":"Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community","volume":"79","author":"Cangul","year":"2013","journal-title":"Clin. 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Paediatr."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/17\/3898\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:55:28Z","timestamp":1760165728000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/17\/3898"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,30]]},"references-count":27,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["jcm10173898"],"URL":"https:\/\/doi.org\/10.3390\/jcm10173898","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,30]]}}}