{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T13:11:30Z","timestamp":1783948290933,"version":"3.55.0"},"reference-count":10,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":518,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,10,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes and a rare type of diabetes, which accounts for 1\u20135% of cases and is often underdiagnosed. The importance of its diagnosis lies in the potential implications that it can have on disease management and offspring. We report a de novo KCNJ11-MODY case and the process of transition from insulin to sulfonylureas. A 24-year-old Caucasian woman was referred to the Endocrinology Department on account of newly diagnosed diabetes mellitus. Her past medical history was unremarkable; however, her family history was relevant, as three grandparents had diabetes. Blood tests showed elevated haemoglobin A1c (10.7%) and fasting glucose (278 mg\/dL), prompting the initiation of insulin therapy. Further tests revealed a normal C-peptide level (2.75 ng\/mL) and negative anti-glutamic acid decarboxylase and anti-insulin antibodies. The examination of past medical records revealed pre-diabetes since the age of 13. Genetic testing identified a heterozygous pathogenic variant p.(Glu227Lys) in the KCNJ11 gene. Excellent glycaemic control was achieved upon initiation of gliclazide, leading to the withdrawal of insulin treatment. KCNJ11-MODY is an extremely uncommon subtype of MODY, with only a few reported cases worldwide. This case is important, as it supports the use of sulfonylureas as an effective treatment for KCNJ11-MODY.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-24-0048","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T14:21:36Z","timestamp":1734618096000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":5,"title":["Challenges in diagnosis and treatment of\n                    <i>KCNJ11<\/i>\n                    -MODY"],"prefix":"10.1530","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9589-1050","authenticated-orcid":true,"given":"Juliana","family":"Gon\u00e7alves","sequence":"first","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o, Endocrinology, Diabetes and Metabolism Department 1 , ,","place":["Porto, Portugal"]},{"name":"Universidade do Porto, Medicine Faculty 2 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena Urbano","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o, Endocrinology, Diabetes and Metabolism Department 1 , ,","place":["Porto, Portugal"]},{"name":"Universidade do Porto, Medicine Faculty 2 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o, Endocrinology, Diabetes and Metabolism Department 1 , ,","place":["Porto, Portugal"]},{"name":"Universidade do Porto, Medicine Faculty 2 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5703-5093","authenticated-orcid":true,"given":"Diogo","family":"Fernandes da Rocha","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Medical Genetics Department 3 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma B","family":"Souto","sequence":"additional","affiliation":[{"name":"Hospital Lus\u00edadas 4 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1141-4538","authenticated-orcid":true,"given":"Jorge","family":"Pedro","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o, Endocrinology, Diabetes and Metabolism Department 1 , ,","place":["Porto, Portugal"]},{"name":"Universidade do Porto, Medicine Faculty 2 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Freitas","sequence":"additional","affiliation":[{"name":"Universidade do Porto, Medicine Faculty 2 , ,","place":["Porto, Portugal"]},{"name":"Universidade do Porto, i3S \u2013 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade 5 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Queir\u00f3s","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o, Endocrinology, Diabetes and Metabolism Department 1 , ,","place":["Porto, Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2024,12,19]]},"reference":[{"key":"2026070713491858000_bib1","first-page":"137","article-title":"Maturity-onset diabetes of the young: from a molecular basis perspective toward the clinical phenotype and proper management","volume":"67","author":"Oliveira","year":"2020","journal-title":"Endocrinol Diabetes Nutr (Engl 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