Presentation and Clinical Characteristics of Patients with Maturity Onset Diabetes of the Young (MODY) at Women and Children’s Hospital of Buffalo

Abstract

Background: Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes. It is rare, representing the final diagnosis in 1-2% of individuals with diabetes. In the pediatric cohort, it can be confused with type 1 diabetes. Clinical diagnosis is suspected in the case of hyperglycemia, lack of autoantibodies, and autosomal dominant transmission. This retrospective chart review evaluated the clinical presentation and characteristics of patients diagnosed with MODY by our practice with a goal of identifying patients that can be candidates for genetic testing. Methods: Using ICD10 codes for MODY, we performed a retrospective chart review of patients carrying MODY diagnosis confirmed by genetic testing, who received their care at the Diabetes Center at Women and Children’s Hospital of Buffalo. Results: We identified 10 subjects with confirmed genetic testing for MODY. Median age of presentation with hyperglycemia was 13.1 years (range of 3.6-17.3 years). Median HbA1c at presentation was 6.3% (range 6%-14%). While the initial referring diagnosis was elevated fasting BS (FBS) in 50% of subjects, FBS (mean 120±21 mg/dL) was abnormal for all but 1 subject at their first contact visit. All subjects had negative pancreatic autoantibodies. In our cohort, confirmatory testing was as follows: MODY2 (n = 6), MODY3 (n = 2), MODY 4 (n=1), and MODY5 (n=1). Three subjects were assigned a MODY diagnosis prior to genetic testing. Two were siblings with family history of maternal MODY2. The third subject had a history of polycystic kidney disease, septate uterus, and HbA1C in the prediabetes range. This subject was assigned a presumptive diagnosis of MODY 5 prior to genetic test. Conclusion: In our practice, all subjects with confirmed MODY diagnosis had negative pancreatic autoantibodies with most meeting criteria for prediabetes diagnosis. Clinicians should have a high index of suspicion for MODY in subjects who do not fit criteria for T1DM or T2DM. Disclosure L. Saadeh: None. L.D. Mastrandrea: Research Support; Self; Novo Nordisk Inc., AstraZeneca, Sanofi-Aventis. Advisory Panel; Self; Pediatric Diabetes Consortium. Other Relationship; Self; American Academy of Pediatrics. Advisory Panel; Self; JAEB Center For Health Research.