{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:59:35Z","timestamp":1781564375678,"version":"3.54.5"},"reference-count":13,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"content-version":"unspecified","delay-in-days":19,"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":[[2019,11,11]]},"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic \u03b2-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated haemoglobin of 6.8%. She started a sugar-free fast-absorption diet and no insulin therapy was required. Fasting glucose was normal, but 2\u2009hours after lunch she presented hyperglycemia as after 2\u2009hours of an oral glucose tolerance test, with 217\u2009mg\/dL. Family history was positive for type 2 diabetes mellitus with an autosomal dominant pattern. She was discharged with fast-absorption sugar-free diet and low-dose of sulfonylurea. A genetic test was performed detecting a mutation in heterozygosity of HNF1A gene, compatible with the diagnosis of maturity onset diabetes of the young 3 (MODY3), not reported in the literature. Early recognition of signs and symptoms increase awareness of MODY. Genetic test allows confirmation and leads to optimised treatment.<\/jats:p>","DOI":"10.1136\/bcr-2019-231837","type":"journal-article","created":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T12:10:14Z","timestamp":1611144614000},"page":"e231837","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Monogenic diabetes: a new pathogenic variant of HNF1A gene"],"prefix":"10.1136","volume":"14","author":[{"given":"Raquel Vilela","family":"Oliveira","sequence":"first","affiliation":[{"name":"Pediatrics, Unidade Local de Sa\u00fade do Alto Minho EPE, Viana do Castelo, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Bernardo","sequence":"additional","affiliation":[{"name":"Pediatrics, Unidade Local de Sa\u00fade do Alto Minho EPE, Viana do Castelo, 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