{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:59:50Z","timestamp":1781564390427,"version":"3.54.5"},"reference-count":11,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T00:00:00Z","timestamp":1739232000000},"content-version":"vor","delay-in-days":41,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Avicenna J Med"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maturity-onset diabetes of the young (MODY) is often misclassified and can significantly impact the management of these patients and their families. We present three cases initially diagnosed as type 1 diabetes mellitus (T1DM), type 2 diabetes mellitus (T2DM), and fasting hyperglycemia, which were later identified as MODY. A 38-year-old Caucasian lady, previously diagnosed with T2DM, was referred to the diabetes antenatal clinic. She was treated with gliclazide and metformin before pregnancy. She required insulin glargine during her pregnancy. Her diabetes autoantibodies were negative. MODY was suspected and genetic testing confirmed HNF1A MODY gene mutation. A 57-year-old Caucasian lady was diagnosed with T1DM at the age of 18 years. Since diagnosis, she was treated with insulin glargine without any short-acting insulin, yet persistently suffered from hypoglycemia. MODY was suspected and genetic testing confirmed HNF4A gene mutation. A 33-year-old South Asian lady was referred to a diabetes clinic for suspected T2DM due to strong family history of T2DM, ethnicity, and persistently elevated fasting blood glucose levels. Her genetic testing confirmed GCK-MODY (Glucokinae-maturity-onset diabetes of the young). MODY represents a group of genetic diabetes that can often go unrecognized due to misdiagnosis. Achieving an accurate diagnosis is important as it guides appropriate treatment strategies, improves patient outcomes, and has an impact on other family members due to the hereditary nature of the condition. Employing a systematic approach is crucial. Our cases highlight that it is never too late to challenge the diabetes classification.<\/jats:p>","DOI":"10.1055\/s-0045-1802584","type":"journal-article","created":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T01:10:21Z","timestamp":1739322621000},"page":"041-045","source":"Crossref","is-referenced-by-count":3,"title":["When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients"],"prefix":"10.1055","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4857-5140","authenticated-orcid":false,"given":"Yujia","family":"Gao","sequence":"additional","affiliation":[{"name":"UCL Medical School, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7884-0403","authenticated-orcid":false,"given":"Kalyan Mansukhbhai","family":"Shekhda","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Royal Free London NHS Foundation Trust, Pond St, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah N.","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Royal Free London NHS Foundation Trust, Pond St, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s40842-020-00112-5","article-title":"The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)","volume":"6","author":"K M Nkonge","year":"2020","journal-title":"Clin Diabetes Endocrinol"},{"issue":"05","key":"ref2","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.jcjd.2016.03.002","article-title":"Maturity-onset diabetes of the young (MODY): making the right diagnosis to optimize treatment","volume":"40","author":"S Amed","year":"2016","journal-title":"Can J Diabetes"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1007\/s00125-011-2418-8","article-title":"The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes","volume":"55","author":"B M Shields","year":"2012","journal-title":"Diabetologia"},{"issue":"11","key":"ref4","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.2337\/dc16-0645","article-title":"Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes","volume":"39","author":"M Shepherd","year":"2016","journal-title":"Diabetes Care"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/gim.2017.150","article-title":"Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial","volume":"20","author":"J W Kleinberger","year":"2018","journal-title":"Genet Med"},{"issue":"08","key":"ref6","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1007\/s13300-020-00864-4","article-title":"Treatment options for MODY patients: a systematic review of literature","volume":"11","author":"M Delvecchio","year":"2020","journal-title":"Diabetes Ther"},{"issue":"01","key":"ref8","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":"D T Broome","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"issue":"S 01","key":"ref9","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.2337\/dc20-S002","article-title":"2. Classification and diagnosis of diabetes: standards of medical care in diabetes-2020","volume":"43","author":"American Diabetes Association","year":"2020","journal-title":"Diabetes Care"},{"issue":"12","key":"ref10","doi-asserted-by":"crossref","first-page":"2286","DOI":"10.1210\/js.2019-00278","article-title":"Optimal glycemic control in a patient with HNF1A MODY with GLP-1 RA monotherapy: implications for future therapy","volume":"3","author":"K L Fantasia","year":"2019","journal-title":"J Endocr Soc"},{"key":"ref11","first-page":"21","article-title":"The use of SGLT2 inhibitors in achieving glycaemic control in maturity-onset diabetes of the young type 3","volume":"2021","author":"A Sriravindrarajah","year":"2021","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"issue":"02","key":"ref12","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1007\/s12020-017-1341-2","article-title":"A single dose of dapagliflozin, an SGLT-2 inhibitor, induces higher glycosuria in GCK- and HNF1A-MODY than in type 2 diabetes mellitus","volume":"57","author":"J Hohendorff","year":"2017","journal-title":"Endocrine"}],"container-title":["Avicenna Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0045-1802584.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T23:05:30Z","timestamp":1747695930000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0045-1802584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":11,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2025,5,19]]},"published-print":{"date-parts":[[2025,1]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0045-1802584","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2231-0770","2249-4464"],"issn-type":[{"value":"2231-0770","type":"print"},{"value":"2249-4464","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}