Introduction: Maturity Onset Diabetes of the Young (MODY) is a monogenic form of non-insulin-dependent diabetes that classically presents in a lean individual with non ketotic hyperglycaemia and an autosomal dominant inheritance pattern. The diagnosis remains a challenge and may be made by careful clinical evaluation, but exact sub-typing is possible only by genetic analysis.
Materials and methods: This is a prospective data analysis in the diabetology-endocrinology department of Oujdas Mohammed VI university hospital during a one year period as part of a research programm covering the Mediterranean region to detect monogenic diabetes among patients suspected to have atypical diabetes. A written informed consent was obtained from all the participants. 20 patients were recruited based on probant clinical evaluation with a positive predictive value (>25%) on the MODY calculator. Saliva samples were used for genetic assays relying on targeted PCR-based enrichment and next generation sequencing.
Results: Almost full records were available for all the patients who were selected; but only 12 had the genetic testing. A MODY 3 and 2 were respectively identified in a 20 and 27 year old patients.
Conclusion: Identification of MODY by medical practitioners is important, as it has both genetic and therapeutic repercussions, which leads to lower diabetic complications and better quality of life.
18 - 21 May 2019
European Society of Endocrinology