{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T12:17:09Z","timestamp":1779279429782,"version":"3.51.4"},"reference-count":10,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:00:00Z","timestamp":1777939200000},"content-version":"vor","delay-in-days":6,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Wolfram syndrome type 1 (WS1) is a rare autosomal recessive disorder involving diabetes mellitus, optic atrophy, and neurodegeneration, caused by biallelic WFS1 mutations. Though typically diagnosed in childhood, adult-onset cases may be missed due to variable symptom onset. We describe a 38-year-old woman with early-onset insulin-requiring, autoantibody-negative diabetes, progressive visual loss due to optic atrophy, bilateral sensorineural hearing loss, secondary amenorrhea with hyperprolactinemia, and arginine-vasopressin (AVP) deficiency. Magnetic resonance imaging (MRI) demonstrated atrophy of the optic nerves\/chiasm and cerebellum. Genetic testing revealed a novel homozygous exon 8 WFS1 loss-of-function variant, which was classified as pathogenic. This case underscores the need for heightened clinical suspicion, imaging-based markers, and timely genetic testing to diagnose Wolfram syndrome in adult patients and to guide their management and eligibility for emerging trials.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag066","type":"journal-article","created":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T12:45:12Z","timestamp":1774010712000},"source":"Crossref","is-referenced-by-count":0,"title":["Expanding the phenotype of Wolfram syndrome: adult presentation with a novel\n                    <i>WFS1<\/i>\n                    variant"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3521-1954","authenticated-orcid":false,"given":"Pulkit","family":"Mehrotra","sequence":"first","affiliation":[{"name":"Sri Ramachandra Medical College Department of General Medicine, , Porur 600116 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Vengadakrishnan","sequence":"additional","affiliation":[{"name":"Sri Ramachandra Medical College Department of General Medicine, , Porur 600116 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nisha","family":"Dubey","sequence":"additional","affiliation":[{"name":"Sri Ramachandra Medical College Department of General Medicine, , Porur 600116 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2026,5,5]]},"reference":[{"issue":"1","key":"2026052007564798700_luag066-B1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s11892-015-0702-6","article-title":"Wolfram syndrome: diagnosis, management, and treatment","volume":"16","author":"Urano","year":"2016","journal-title":"Curr Diab 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Health"},{"issue":"7","key":"2026052007564798700_luag066-B5","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1002\/humu.23233","article-title":"Monogenic diabetes syndromes: locus-specific databases for Alstr\u00f6m, Wolfram, and thiamine-responsive megaloblastic anemia","volume":"38","author":"Astuti","year":"2017","journal-title":"Hum Mutat"},{"key":"2026052007564798700_luag066-B6","doi-asserted-by":"crossref","first-page":"102354","DOI":"10.1016\/j.ajoc.2025.102354","article-title":"An atypical presentation of Wolfram syndrome with adult-onset diabetes","volume":"39","author":"Meisel","year":"2025","journal-title":"Am J Ophthalmol Case Rep"},{"issue":"1","key":"2026052007564798700_luag066-B7","first-page":"e001099","article-title":"Serum microRNA profiles reflect disease severity in Wolfram syndrome","volume":"8","author":"Fendler","year":"2020","journal-title":"BMJ Open Diabetes Res 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