{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:20:51Z","timestamp":1787840451289,"version":"build-2784847793"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,9]]},"abstract":"\n Introduction:<\/jats:title>\n Maturity-onset diabetes of the young (MODY) is a rare group of disorders characterised by impaired functions or development of pancreatic islets and monogenic diabetes at a young age. Diagnosing MODY can be rewarding for both clinicians and patients as it can change the management from generic to targeted therapy.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n This study reports the retrospective analysis of data collected from four clinics between March 2016 and February 2023 from Lucknow, a city in northern India. Fifty-three individuals are suspected to be affected by MODY based on ISPAD guidelines. Following a detailed clinical evaluation, they were referred for genetic diagnostic testing.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n The cohort consists of 19 females and 34 males with a mean age of diagnosis of 25.3 years and a body mass index of 22.3 Kg\/m\n 2<\/jats:sup>\n . Genetic testing detected variants in 13\/53 (~24.5%) individuals. Five cases had significant pathogenic\/likely pathogenic variants,\n HNF1A<\/jats:italic>\n gene in two [(p.Phe268LeufsTer74) (p.Arg200Gln)], one each in\n HNF4A<\/jats:italic>\n (Arg311His),\n PDX1<\/jats:italic>\n (p.Ala228GlyfsTer33), and a case with suggestive digenic variants in\n HNF1A<\/jats:italic>\n gene (p.Arg200Gln) and\n HNF1B<\/jats:italic>\n [(p.Leu13Met)]. Variants of uncertain significance (VUSs) with inconclusive evidence of pathogenicity were reported in eight patients, and five were considered to be clinically significant as they are lean young onset, sulfonylurea-responsive, and presented with diabetes without acanthosis nigricans and with high pretest probability. These individuals harboured variants in\n HNF1A<\/jats:italic>\n (p.Thr425_Thr429delinsPro),\n HNF1B<\/jats:italic>\n (p.Ser19Phe),\n CEL<\/jats:italic>\n (p.Val681ArgfsTer6),\n ABCC8<\/jats:italic>\n (p.Ile872Met), and\n KCNJ11<\/jats:italic>\n (p.Arg221Cys) genes.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n We found a diagnostic yield of around 10% of pathogenic or likely pathogenic variants in individuals who were suspected to have MODY. As it is a field that is still evolving, we might consider starting with oral agents under close supervision in those individuals who have VUS; there are some proportions of individuals who might not have classical sulfonylurea-responsive genetic variants, but they might respond to it.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijem.ijem_361_23","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T09:00:47Z","timestamp":1731056447000},"page":"480-487","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics"],"prefix":"10.4103","volume":"28","author":[{"given":"Arunkumar R.","family":"Pande","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Lucknow Endocrine Diabetes and Thyroid Clinic, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santosh","family":"Chaubey","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Cairns and Hinterland Hospital and Health Service, 165 The Esplanade Cairns North QLD, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Harsh Clinic and Diabetes Care Centre, Singar Nagar Alambagh, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumar P.","family":"Chandra","sequence":"additional","affiliation":[{"name":"Department of Diabetology, Chandra Diabetes Clinic, Vijayant Khand, Gomti Nagar, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thenral","family":"Geetha","sequence":"additional","affiliation":[{"name":"Department of Genetics, MedGenome Labs, Tamil Nadu, 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