{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:47:05Z","timestamp":1789516025190,"version":"build-2803163510"},"reference-count":20,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T00:00:00Z","timestamp":1758585600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"JSPS KAKENHI","award":["JP23H02885"],"award-info":[{"award-number":["JP23H02885"]}]},{"DOI":"10.13039\/100015758","name":"Novo Nordisk Pharma Ltd.","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100015758","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100019522","name":"JCR Pharmaceuticals Co., Ltd.","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019522","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>SLC26A7 encodes an apical iodide transporter in thyroid follicular cells and causes, when mutated, congenital hypothyroidism (CH). We report a patient diagnosed with goitrous CH, who initially presented with neck enlargement and inspiratory stridor on day 3 of life. Levothyroxine therapy resulted in prompt improvement in upper airway compression, and surgical interventions were avoided. The levothyroxine dosage per body weight was gradually reduced to 0.5\u2005\u03bcg\/kg\/day by age 11 months. Genomic sequencing of CH-related genes identified compound heterozygous protein-truncating SLC26A7 variants: c.612_613dup, p.Ser207Tyrfs*31 and c.1498C&amp;gt;T, p.Gln500*. We emphasize the importance of considering genetic etiologies in cases of neonatal goiter with upper airway compression, particularly in the absence of exposure to excessive iodine or antithyroid drugs<\/jats:p>","DOI":"10.1093\/ejendo\/lvaf198","type":"journal-article","created":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T18:10:56Z","timestamp":1758651056000},"page":"K16-K21","source":"Crossref","is-referenced-by-count":1,"title":["Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect"],"prefix":"10.1093","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1789-3431","authenticated-orcid":false,"given":"Yasuhiro","family":"Hirano","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hiratsuka City Hospital , Kanagawa 254-0065 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Shimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine , Tokyo 160-8582 ,","place":["Japan"]},{"name":"Department of Pediatrics, Yokohama Municipal Citizen's Hospital , Kanagawa 221-0855 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Mitani-Konno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine , Tokyo 160-8582 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoya","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiratsuka City Hospital , Kanagawa 254-0065 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0143-3989","authenticated-orcid":false,"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine , Tokyo 160-8582 ,","place":["Japan"]},{"name":"Kashiwa Tanaka 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