{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:02:15Z","timestamp":1789758135140,"version":"4.0.1"},"reference-count":10,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2019,7]]},"abstract":"\n Six patients are described with bi-allelic\n DUOX2<\/jats:italic>\n variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing respiratory distress, which was promptly alleviated by levothyroxine (LT4). He was a compound heterozygote for\n DUOX2<\/jats:italic>\n variants, including a novel deletion of 540 base pairs. Patients 2 and 3 are siblings with the same compound heterozygous mutations of\n DUOX2<\/jats:italic>\n , yet one had overt hypothyroidism at 14 months and the other lifelong euthyroidism. Patient 4 is a compound heterozygote individual and has mild persistent congenital hypothyroidism; his sister (patient 5) only had a borderline thyrotropin elevation at newborn screening, consistent with homozygous\n DUOX2<\/jats:italic>\n variants with a mild impact on enzyme activity. Their euthyroid mother (patient 6) is a compound heterozygote for the same\n DUOX2<\/jats:italic>\n mutations as her son. Targeted exome sequencing did not reveal any relevant modifiers. It is concluded that (i) prompt LT4 replacement in infants with respiratory distress due to a hypothyroid goiter makes surgery unnecessary; and (ii) the clinical expression of DUOX2 deficiency varies widely between individuals and over time, justifying periodic reevaluation of the need for LT4 replacement.\n <\/jats:p>","DOI":"10.1089\/thy.2018.0461","type":"journal-article","created":{"date-parts":[[2019,4,27]],"date-time":"2019-04-27T07:25:07Z","timestamp":1556349907000},"page":"1018-1022","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":22,"title":["Wide Spectrum of\n DUOX2<\/i>\n Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism"],"prefix":"10.1177","volume":"29","author":[{"given":"Gabrielle","family":"Dufort","sequence":"first","affiliation":[{"name":"Endocrinology Service and Research Center of the Sainte-Justine Hospital and Department of Pediatrics, Universit\u00e9 de Montreal, Montreal, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Larriv\u00e9e-Vanier","sequence":"additional","affiliation":[{"name":"Endocrinology Service and Research Center of the Sainte-Justine Hospital and Department of Pediatrics, Universit\u00e9 de Montreal, Montreal, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dardye","family":"Eug\u00e8ne","sequence":"additional","affiliation":[{"name":"Centre Hospitalier de l'Universit\u00e9 Laval, Department of Pediatrics, Universit\u00e9 Laval, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"De Deken","sequence":"additional","affiliation":[{"name":"Institut de Recherche Interdisciplinaire en Biologie Humaine et Mol\u00e9culaire (IRIBHM), Universit\u00e9 Libre de Bruxelles (ULB), Brussels, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britta","family":"Seebauer","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Heinimann","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"L\u00e9vesque","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Gravel","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor","family":"Szinnai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, University Children's Hospital Basel, University of Basel, Basel, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Van Vliet","sequence":"additional","affiliation":[{"name":"Endocrinology Service and Research Center of the Sainte-Justine Hospital and Department of Pediatrics, Universit\u00e9 de Montreal, Montreal, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johnny","family":"Delado\u00eby","sequence":"additional","affiliation":[{"name":"Endocrinology Service and Research Center of the Sainte-Justine Hospital and Department of Pediatrics, Universit\u00e9 de Montreal, Montreal, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,7,17]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012752"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2017.04.006"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.120268"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1080\/08035250600711074"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2016.0469"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-07-5782"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2012.0388"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9372"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21227"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1159\/000491104"}],"updated-by":[{"DOI":"10.1089\/thy.2018.0461.correx","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2019,9,17]],"date-time":"2019-09-17T00:00:00Z","timestamp":1568678400000}}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2018.0461","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2018.0461","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2018.0461","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:05:08Z","timestamp":1777586708000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2018.0461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1089\/thy.2018.0461"],"URL":"https:\/\/doi.org\/10.1089\/thy.2018.0461","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7]]}}}