{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T04:27:06Z","timestamp":1771648026865,"version":"3.50.1"},"reference-count":20,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,1,31]]},"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Maturity-onset diabetes of the young (MODY) is a type of diabetes that does not entirely fit the usually encountered type 1 or type 2 diabetes. It is a monogenic, familial and non-autoimmune diabetes among children and young adults resulting from autosomal dominant gene mutations.<\/jats:p>\n               <jats:p>MODY diagnosis is confirmed by molecular genetic testing, which is costly. Therefore, it is rarely done.<\/jats:p>\n               <jats:p>Nearly 1%\u20136% of diabetes has a monogenic cause but this is frequently misclassified as type 1 diabetes mellitus due to the lack of genetic testing. Therefore, a correct diagnosis of MODY is crucial for determining the plan of management. Furthermore, having a patient with MODY in a family indicates screening other family members. In this case report, we highlight that paediatric diabetes cases are not always type 1 or type 2 diabetes mellitus since two siblings incidentally presented with hyperglycaemia and a confirmed diagnosis of MODY type 10 was ultimately made. Moreover, their mother who was previously labelled as a case of type 1 diabetes mellitus was diagnosed later as MODY after genetic testing.<\/jats:p>","DOI":"10.1136\/bcr-2022-249362","type":"journal-article","created":{"date-parts":[[2023,2,10]],"date-time":"2023-02-10T09:06:57Z","timestamp":1676020017000},"page":"e249362","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Two siblings with a rare type of maturity-onset diabetes of the young (MODY)"],"prefix":"10.1136","volume":"16","author":[{"given":"Fatima Riyadh","family":"Alhakim","sequence":"first","affiliation":[{"name":"Pediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haya","family":"AlKhayyat","sequence":"additional","affiliation":[{"name":"Pediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,2,10]]},"reference":[{"key":"2025082803594963000_16.2.e249362.1","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2019-231837","article-title":"Monogenic diabetes: a new pathogenic variant of HNF1A gene","volume":"14","author":"Oliveira","year":"2021","journal-title":"BMJ Case Rep"},{"key":"2025082803594963000_16.2.e249362.2","doi-asserted-by":"crossref","DOI":"10.1136\/bmjdrc-2020-001470","article-title":"Atypical diabetes: a diagnostic challenge","volume":"8","author":"Sj\u00f6holm","year":"2020","journal-title":"BMJ Open Diabetes Res Care"},{"key":"2025082803594963000_16.2.e249362.3","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2019-034716","article-title":"Strategies to identify individuals with monogenic diabetes: results of an economic evaluation","volume":"10","author":"Peters","year":"2020","journal-title":"BMJ Open"},{"key":"2025082803594963000_16.2.e249362.4","doi-asserted-by":"publisher","DOI":"10.1111\/1753-0407.12849"},{"key":"2025082803594963000_16.2.e249362.5","unstructured":"Naylor R , del D . Maturity-onset diabetes of the young overview. Seattle: University of Washington, 2018."},{"key":"2025082803594963000_16.2.e249362.6","doi-asserted-by":"crossref","DOI":"10.1136\/bmjdrc-2021-002217","article-title":"Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients","volume":"9","author":"Lee","year":"2021","journal-title":"BMJ Open Diabetes Res Care"},{"key":"2025082803594963000_16.2.e249362.7","doi-asserted-by":"publisher","DOI":"10.2147\/DMSO.S179793"},{"key":"2025082803594963000_16.2.e249362.8","doi-asserted-by":"publisher","DOI":"10.1007\/s13300-020-00864-4"},{"key":"2025082803594963000_16.2.e249362.9","doi-asserted-by":"publisher","DOI":"10.1186\/s40842-020-00112-5"},{"key":"2025082803594963000_16.2.e249362.10","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1007\/s13300-017-0350-8","article-title":"A case of maturity onset diabetes of the young (MODY3) in a family with a novel HNF1A gene mutation in five generations","volume":"9","author":"Ovsyannikova","year":"2018","journal-title":"Diabetes Ther"},{"key":"2025082803594963000_16.2.e249362.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.mam.2014.12.001"},{"key":"2025082803594963000_16.2.e249362.12","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.38519","article-title":"Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes","volume":"7","author":"Balboa","year":"2018","journal-title":"Elife"},{"key":"2025082803594963000_16.2.e249362.13","doi-asserted-by":"publisher","DOI":"10.1177\/0004563213483458"},{"key":"2025082803594963000_16.2.e249362.14","doi-asserted-by":"crossref","DOI":"10.1177\/2333794X19874215","article-title":"A case of a 13-year-old female with maturity onset diabetes of the young (MODY) identified by school-based cardiovascular screening","volume":"6","author":"Gordon","year":"2019","journal-title":"Glob Pediatr Health"},{"key":"2025082803594963000_16.2.e249362.15","first-page":"67","article-title":"Investigating maturity onset diabetes of the young","volume":"30","author":"Nyunt","year":"2009","journal-title":"Clin Biochem Rev"},{"key":"2025082803594963000_16.2.e249362.16","doi-asserted-by":"crossref","DOI":"10.1136\/bmjdrc-2019-000745","article-title":"New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population","volume":"8","author":"Ma","year":"2020","journal-title":"BMJ Open Diabetes Res Care"},{"key":"2025082803594963000_16.2.e249362.17","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0029205","article-title":"Permanent neonatal diabetes caused by creation of an ectopic splice site within the Ins gene","volume":"7","author":"Garin","year":"2012","journal-title":"PLoS One"},{"key":"2025082803594963000_16.2.e249362.18","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082803594963000_16.2.e249362.19","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.ejmg.2015.02.004","article-title":"Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with maturity-onset diabetes of the young","volume":"58","author":"Dusatkova","year":"2015","journal-title":"Eur J Med Genet"},{"key":"2025082803594963000_16.2.e249362.20","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1111\/jdi.12974","article-title":"Identification of a variant associated with early-onset diabetes in the intron of the insulin gene with exome sequencing","volume":"10","author":"Matsuno","year":"2019","journal-title":"J Diabetes Investig"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-249362","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:00:09Z","timestamp":1756378809000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-249362"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":20,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,2,10]]},"published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1136\/bcr-2022-249362"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-249362","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2]]}}}