Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY

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dc.contributor.authorKayas, Leman
dc.contributor.authorAkinci, Aysehan
dc.contributor.authorCamtosun, Emine
dc.contributor.authorDundar, Ismail
dc.contributor.authorCiftci, Nurdan
dc.contributor.authorEsener, Zeynep
dc.contributor.authorTekedereli, Ibrahim
dc.date.accessioned2026-04-04T13:30:50Z
dc.date.available2026-04-04T13:30:50Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractObjective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterised by early-onset diabetes and inherited in an autosomal dominant manner. MODY results from heterozygous mutations in genes important for pancreatic beta-cell development or function. The objective was to identify the most common and rarest types of MODY amongst our cases with genetically confirmed MODY diagnosis, to evaluate clinical and laboratory features and treatment regimens. Methods: The epidemiological, auxological, and laboratory data, genetic analysis results and treatment regimens of patients diagnosed with MODY were retrospectively evaluated. Results: Of the 44 cases included, 27 (61.4%) were male and the median age at diagnosis was 10.07 (1-16.8) years. There was a family history of diabetes in 42 (95.5%) cases. The distribution of gene variants was: 25 (55.8%) glucokinase (GCK), 4 (9.1%) hepatocyte nuclear factor-4-alpha, 4 (9.1%) carboxyl ester lipase, 2 (4.5%) B lymphocyte kinase, 4 (9.1%) ATP-binding cassette subfamily C member 8, 2 (4.5%) Kruppel-like factor 11, 1 (2.3%) insulin (INS), 1 (2.3%) potassium channel, inwardly rectifying, subfamily J member 11, and 1 (2.3%) adaptor protein, phosphotyrosine interaction, pH domain, and leucine zipper containing 1. At presentation, 23 (52.3%) of the cases had incidental hyperglycemia while 14 (31.8%) had polyuria and polydipsia. Diabetic ketoacidosis was detected in 4 (9.1%) and ketonemia in 3 (6.9%). At least one of the diabetes autoantibodies (anti-glutamate acid decarboxylase, anti-islet cell antibodies, anti-insulin autoantibodies) was detected in 11 (25%) cases, of which 7/11 were islet antibodies, and 5 patients (11%) had two autoantibodies positive simultaneously. In terms of treatment, 26 (59%) received diet and lifestyle changes only, 18 (41%) received oral antidiabetic agents and/or insulin, and 6 (13.6%) received both oral antidiabetic agents and insulin. Conclusion: The most common type of MODY in our cohort was GCK-MODY. Although MODY is generally known as an autoantibodynegative type of diabetes, autoantibody positivity was detected in 11 of 44 cases (25%) in the present study.
dc.identifier.doi10.4274/jcrpe.galenos.2025.2024-10-18
dc.identifier.endpage476
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue4
dc.identifier.orcid0000-0003-1468-6405
dc.identifier.pmid40338033
dc.identifier.scopus2-s2.0-105024336314
dc.identifier.scopusqualityQ2
dc.identifier.startpage468
dc.identifier.trdizinid1364603
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2025.2024-10-18
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1364603
dc.identifier.urihttps://hdl.handle.net/11616/108402
dc.identifier.volume17
dc.identifier.wosWOS:001638434100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGalenos Publ House
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectMODY
dc.subjectdiabetes autoantibodies
dc.subjectchildhood
dc.titleGenotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY
dc.typeArticle

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