P-048 Mody 8 Due to Cel Gene Mutation in a 41-Year-Old Female: A Diagnostic Challenge and Management Update

Abstract Introduction Maturity-Onset diabetes of the Young (MODY) is a monogenic form of diabetes often mimicking Type 1 or Type 2 diabetes MODY type 8 (MODY 8), resulting from mutations in the CEL gene, is rare and associated with pancreatic exocrine dysfunction and hepatic abnormalities. Clinical Case A 41-year-old female, BMI 26.1 kg/m², diagnosed with diabetes at age 16, had persistent hyperglycemia despite insulin therapy. Her phenotype was atypical for Type 1 or 2 diabetes, exhibiting adequate C-peptide levels, negative autoimmune markers, hyperlipidemia, hepatic steatosis, elevated transaminases, and vitamin D deficiency. Genetic testing identified a CEL mutation (c.1843del, p. Ala615Profs92), heterozygous and likely pathogenic. An incidental WFS1 mutation (c.2600GA, p. Trp867) was also found. Identification of the CEL mutation prompted a shift from insulin to Tirzepatide, Metformin, and SGLT2 inhibitors. Follow-up showed improvement in HbA1c to 7.6% and BMI to 22.94 kg/m². Conclusion Clinicians should consider MODY in non-obese, early-onset diabetic patients lacking autoimmune markers. Genetic testing facilitates precision diagnosis, personalized therapy, and reduces unnecessary insulin use.