{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T01:36:56Z","timestamp":1765849016307,"version":"3.48.0"},"reference-count":24,"publisher":"BMJ","issue":"12","license":[{"start":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T00:00:00Z","timestamp":1765756800000},"content-version":"unspecified","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,21]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha (\n                    <jats:italic>HNF1A<\/jats:italic>\n                    )-MODY due to a novel heterozygous\n                    <jats:italic>HNF1A<\/jats:italic>\n                    mutation. The patient presented with hyperglycaemia and glycosuria in the absence of diabetic ketoacidosis. Family history was notable for early-onset diabetes. Genetic testing confirmed a previously unreported pathogenic\n                    <jats:italic>HNF1A<\/jats:italic>\n                    variant. Treatment with a GLP-1 receptor agonist and metformin reduced glycated haemoglobin from 10.2% to 6.0% within 3\u2009months. This case highlights the importance of genetic screening in early-onset diabetes, which is frequently misdiagnosed as type 1 or type 2 diabetes, and expands the spectrum of\n                    <jats:italic>HNF1A<\/jats:italic>\n                    mutations relevant to precision medicine.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-265503","type":"journal-article","created":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T01:35:12Z","timestamp":1765848912000},"page":"e265503","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Non-type 1 and non-type 2 diabetes in a young man due to novel mutation in HNF1A"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8418-0858","authenticated-orcid":false,"given":"Yi-Chen","family":"Liu","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng-Chiang","family":"Su","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng-Chih","family":"Kuo","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Jen","family":"Hung","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yen-Lin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,12,15]]},"reference":[{"key":"2025121517350432000_18.12.e265503.1","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1007\/s13300-019-0633-3","article-title":"Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation","volume":"10","author":"Salzano","year":"2019","journal-title":"Diabetes Ther"},{"key":"2025121517350432000_18.12.e265503.2","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1210\/clinem\/dgaa710","article-title":"Approach to the Patient with MODY-Monogenic Diabetes","volume":"106","author":"Broome","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"2025121517350432000_18.12.e265503.3","unstructured":"Naylor R , Knight Johnson A , Gaudio D . Maturity-onset diabetes of the young overview. In: Adam MP , Feldman J , Mirzaa GM , et al , eds. GeneReviews. 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MODY probability calculator \u2013 exeter diabetes app. Exeter: University of Exeter; 2025. Available: https:\/\/www.diabetesgenes.org\/exeter-diabetes-app\/"},{"key":"2025121517350432000_18.12.e265503.16","doi-asserted-by":"crossref","first-page":"253","DOI":"10.3389\/fendo.2018.00253","article-title":"Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives","volume":"9","author":"Firdous","year":"2018","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2025121517350432000_18.12.e265503.17","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-017-4226-2"},{"key":"2025121517350432000_18.12.e265503.18","doi-asserted-by":"publisher","DOI":"10.1007\/s001250051101"},{"key":"2025121517350432000_18.12.e265503.19","doi-asserted-by":"crossref","first-page":"740","DOI":"10.3390\/ijms26020740","article-title":"Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia","volume":"26","author":"Minniakhmetov","year":"2025","journal-title":"Int J Mol Sci"},{"key":"2025121517350432000_18.12.e265503.20","doi-asserted-by":"publisher","DOI":"10.2478\/enr-2019-0013"},{"key":"2025121517350432000_18.12.e265503.21","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025121517350432000_18.12.e265503.22","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1111\/cge.12757","article-title":"Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes","volume":"90","author":"Balamurugan","year":"2016","journal-title":"Clin Genet"},{"key":"2025121517350432000_18.12.e265503.23","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22279"},{"key":"2025121517350432000_18.12.e265503.24","doi-asserted-by":"publisher","DOI":"10.2337\/db16-0460"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T01:35:15Z","timestamp":1765848915000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":24,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,12,15]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/bcr-2025-265503"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265503","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}