Publicação
Evaluating Clinical Markers To Improve Selection Of Diabetes Patients For Genetic Testing
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Vaz, Margarida | |
| dc.contributor.author | Gaspar, Gisela | |
| dc.contributor.author | Dario, Paulo | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2026-03-02T14:33:43Z | |
| dc.date.available | 2026-03-02T14:33:43Z | |
| dc.date.issued | 2025-11-20 | |
| dc.description.abstract | Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes caused by variants in one of 14 genes, each affecting glucose metabolism differently and leading to heterogeneous clinical presentations. Because of this variability, MODY is frequently misdiagnosed as type 1 or type 2 diabetes. In this work, the aim was to characterize patients with and without pathogenic MODY variants among participants of the Molecular Study of Monogenic Diabetes. Clinical data—age at diagnosis, blood glucose, HbA1c, and C-peptide—were analyzed using statistical tests (Shapiro and Wilcoxon). Among these parameters, only age at diagnosis differed significantly, with MODY patients being diagnosed earlier, likely due to the high prevalence of GCK-MODY in the cohort. C-peptide levels were within normal ranges in both groups. The study concludes that these common clinical markers are insufficient to reliably identify MODY cases, emphasizing the need for additional biomarkers and highlighting genetic testing as the only definitive diagnostic tool | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11006 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.rights.uri | N/A | |
| dc.subject | MODY Diabetes | |
| dc.subject | Clinical Markers | |
| dc.subject | Genetic Testing | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | |
| dc.subject | Genómica Funcional e Estrutural | |
| dc.title | Evaluating Clinical Markers To Improve Selection Of Diabetes Patients For Genetic Testing | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-11 | |
| oaire.citation.conferencePlace | Coimbra, Portugal | |
| oaire.citation.title | 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), 20-22 novembro 2025 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce |