{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:34:47Z","timestamp":1791272087705,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":["eur j endocrinol"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>: Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism (CH). Thyroid peroxidase gene (<jats:italic>TPO<\/jats:italic>) mutations are one of the most common causes of thyroid dyshormonogenesis. The aim of this study was to identify <jats:italic>TPO<\/jats:italic> gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia.<\/jats:p>\n      <jats:p><jats:italic>Design and methods<\/jats:italic>: Forty-three patients with permanent CH and orthoptic thyroid glands from 39 unrelated families participated in the study. Mutational analysis of the <jats:italic>TPO<\/jats:italic> gene and part of its promoter consisted of single-stranded conformation polymorphism analysis, sequencing, and restriction fragment length polymorphism (RFLP) analysis.<\/jats:p>\n      <jats:p><jats:italic>Results: TPO<\/jats:italic> gene mutations were identified in 46% of participants. Seven different mutations were identified, four mutations of these being novel, namely 613C &gt; T (R175X), 1519_1539del (A477_N483del), 2089G &gt; A (G667S), and 2669G &gt; A (G860R). Only a single allele mutation was identified in 65% of the <jats:italic>TPO<\/jats:italic> mutation carriers.<\/jats:p>\n      <jats:p><jats:italic>Conclusions<\/jats:italic>: The results showed a higher prevalence of <jats:italic>TPO<\/jats:italic> gene mutations in thyroid dyshormonogenesis when compared with published studies. The high percentage of single allele mutations implied possible intronic or regulatory <jats:italic>TPO<\/jats:italic> gene mutations or monoallelic expression.<\/jats:p>","DOI":"10.1530\/eje-07-0037","type":"journal-article","created":{"date-parts":[[2007,4,27]],"date-time":"2007-04-27T14:18:20Z","timestamp":1177683500000},"page":"511-519","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":81,"title":["High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis"],"prefix":"10.1093","volume":"156","author":[{"given":"Magdalena","family":"Avbelj","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Husref","family":"Tahirovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marusa","family":"Debeljak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kusekova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alma","family":"Toromanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciril","family":"Krzisnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/156\/5\/1560511.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/156\/5\/1560511.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:20:01Z","timestamp":1676391601000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/156\/5\/511\/6695823"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/eje-07-0037","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5]]}}}