{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:17:26Z","timestamp":1790252246996,"version":"4.1.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"11","content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,11]]},"abstract":"\n Objective<\/jats:title>\n To identify the genetic etiologies of congenital primary hypothyroidism (CH) in Thai patients.<\/jats:p>\n <\/jats:sec>\n \n Design and methods<\/jats:title>\n \n CH patients were enrolled. Clinical characteristics including age, signs and symptoms of CH, pedigree, family history, screened thyroid-stimulating hormone results, thyroid function tests, thyroid imaging, clinical course and treatment of CH were collected. Clinical exome sequencing by next-generation sequencing was performed. In-house gene list which covered 62 potential candidate genes related to CH and thyroid disorders was developed for targeted sequencing. Sanger sequencing was performed to validate the candidate variants. Thyroid function tests were determined in the heterozygous parents who carried the same\n DUOX2<\/jats:italic>\n or\n DUOXA2<\/jats:italic>\n variants as their offsprings.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n There were 118 patients (63 males) included. Mean (SD) age at enrollment was 12.4 (7.9) years. Forty-five of 118 patients (38%) had disease-causing variants. Of 45 variants, 7 genes were involved (\n DUOX2<\/jats:italic>\n ,\n DUOXA2<\/jats:italic>\n ,\n TG<\/jats:italic>\n ,\n TPO<\/jats:italic>\n ,\n SLC5A5<\/jats:italic>\n ,\n PAX8<\/jats:italic>\n and\n TSHR<\/jats:italic>\n ).\n DUOX2<\/jats:italic>\n , a gene causing thyroid dyshormonogenesis, was the most common defective gene (25\/45, 56%). The most common\n DUOX2<\/jats:italic>\n variant found in this study was c.1588A>T.\n TG<\/jats:italic>\n and\n TPO<\/jats:italic>\n variants were less common. Fourteen novel variants were found. Thyroid function tests of most parents with heterozygous state of\n DUOX2<\/jats:italic>\n and\n DUOXA2<\/jats:italic>\n variants were normal.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n DUOX2<\/jats:italic>\n variants were most common among Thai CH patients, while\n TG<\/jats:italic>\n and\n TPO<\/jats:italic>\n variants were less common. The c.1588A>T in\n DUOX2<\/jats:italic>\n gene was highly frequent in this population.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/ec-20-0411","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T14:56:20Z","timestamp":1603983380000},"page":"1121-1134","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":19,"title":["DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients"],"prefix":"10.1530","volume":"9","author":[{"given":"Kinnaree","family":"Sorapipatcharoen","sequence":"first","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thipwimol","family":"Tim-Aroon","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pat","family":"Mahachoklertwattana","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasun","family":"Chantratita","sequence":"additional","affiliation":[{"name":"2Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nareenart","family":"Iemwimangsa","sequence":"additional","affiliation":[{"name":"2Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Insee","family":"Sensorn","sequence":"additional","affiliation":[{"name":"2Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhakbhoom","family":"Panthan","sequence":"additional","affiliation":[{"name":"2Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poramate","family":"Jiaranai","sequence":"additional","affiliation":[{"name":"2Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saisuda","family":"Noojarern","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patcharin","family":"Khlairit","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarunyu","family":"Pongratanakul","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chittiwat","family":"Suprasongsin","sequence":"additional","affiliation":[{"name":"3Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manassawee","family":"Korwutthikulrangsri","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chutintorn","family":"Sriphrapradang","sequence":"additional","affiliation":[{"name":"4Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Preamrudee","family":"Poomthavorn","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine Connections"],"original-title":[],"link":[{"URL":"https:\/\/ec.bioscientifica.com\/view\/journals\/ec\/9\/11\/EC-20-0411.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/9\/11\/EC-20-0411.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:44:12Z","timestamp":1784555052000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/ec\/article\/9\/11\/1121-1134\/744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":0,"journal-issue":{"issue":"11"},"URL":"https:\/\/doi.org\/10.1530\/ec-20-0411","relation":{},"ISSN":["2049-3614"],"issn-type":[{"value":"2049-3614","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11]]}}}