{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T12:05:02Z","timestamp":1780056302133,"version":"3.54.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"vor","delay-in-days":148,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Hydrogen peroxide (H\n                    <jats:sub>2<\/jats:sub>\n                    O\n                    <jats:sub>2<\/jats:sub>\n                    ) is an essential substrate for thyroid peroxidase (TPO) and plays a key role in iodine oxidation, organification, and coupling reactions that generate thyroid hormones. Dual oxidase 2 (DUOX2) and its maturation factor dual oxidase maturation factor 2 (DUOXA2) are critical for H\n                    <jats:sub>2<\/jats:sub>\n                    O\n                    <jats:sub>2<\/jats:sub>\n                    production in thyroid follicular cells. Although\n                    <jats:italic>DUOXA2<\/jats:italic>\n                    variants typically present with congenital hypothyroidism, phenotypic variability has been reported. We present an adult woman with a diffuse thyroid goiter and normal thyroid function who was found to have compound heterozygous\n                    <jats:italic>DUOXA2<\/jats:italic>\n                    variants (p.Tyr138\n                    <jats:italic>\u2009<\/jats:italic>\n                    <jats:sup>\u2217<\/jats:sup>\n                    \/p.Tyr246\n                    <jats:italic>\u2009<\/jats:italic>\n                    <jats:sup>\u2217<\/jats:sup>\n                    ). Despite the patient being euthyroid, levothyroxine (LT4) administration led to a reduction in thyroid size. This case highlights that\n                    <jats:italic>DUOXA2<\/jats:italic>\n                    variants may be present in euthyroid adults with thyroid goiter and that LT4 therapy can lead to a reduction in thyroid volume. Long\u2010term follow\u2010up may clarify the natural history and therapeutic response in euthyroid adults with\n                    <jats:italic>DUOXA2<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1155\/crie\/9337816","type":"journal-article","created":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T11:11:16Z","timestamp":1780053076000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>DUOXA2<\/i>\n                    Variants as an Underrecognized Cause of Diffuse Goiter: A Euthyroid Adult Case Responsive to Levothyroxine"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-1044-259X","authenticated-orcid":false,"given":"Hanna","family":"Deguchi-Horiuchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6816-0228","authenticated-orcid":false,"given":"Shuji","family":"Fukata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2413-2564","authenticated-orcid":false,"given":"Takahiko","family":"Kogai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5770-6926","authenticated-orcid":false,"given":"Yuka","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4960-8271","authenticated-orcid":false,"given":"Takashi","family":"Akamizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,29]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2020"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1258\/ebm.2009.009241"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C600095200"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2020.25.1.57"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2018.0587"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvaf123"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000491104"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgae699"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1573"}],"container-title":["Case Reports in Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crie\/9337816","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crie\/9337816","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crie\/9337816","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T11:11:17Z","timestamp":1780053077000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crie\/9337816"}},"subtitle":[],"editor":[{"given":"Mohammad Shahangir","family":"Biswas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crie\/9337816"],"URL":"https:\/\/doi.org\/10.1155\/crie\/9337816","archive":["Portico"],"relation":{},"ISSN":["2090-6501","2090-651X"],"issn-type":[{"value":"2090-6501","type":"print"},{"value":"2090-651X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-02-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9337816"}}