Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population.

CONTEXT:Current practice guidelines recommend considering a diagnosis of maturity-onset diabetes of the young (MODY) in patients with diabetes with an affected parent but without typical features of type 1 or type 2 diabetes. OBJECTIVE:To test if these criteria apply to a real-world cohort of racially/ethnically diverse children with diabetes. METHODS:We performed a retrospective case review of electronic medical records of youth diagnosed with MODY in a large academic pediatric hospital in Southwestern United States. Cases were ascertained based on the identification of a molecular diagnosis of MODY. RESULTS:We studied 50 genetically confirmed cases of MODY: 60% GCK-MODY (MODY2, n = 30), 16% HNF1A-MODY (MODY3, n = 8), 18% HNF1B-MODY (MODY5, n = 9), 4% HNF4A-MODY (MODY1, n = 2), and 2% with a dual molecular diagnosis resulting from variants in more than one MODY gene (n = 1). Race/ethnicity other than non-Hispanic White, lack of parental diabetes history, obesity/overweight at diagnosis, dyslipidemia and/or hypertension and acanthosis nigricans documented on physical examination were observed, respectively, in 52% (n = 26), 24% (n = 12), 22.2% (n = 11), 30% (n = 15), and 12% (n = 6) of MODY cases. Furthermore, islet antibody positivity was observed in 8% of the cases GCK-MODY (n = 4). The mean hemoglobin A1c at diabetes diagnosis was higher in patients with HNF4A-MODY (7.0%), HNF1A-MODY (6.7%), and HNF1B-MODY (6.7%), than in those with GCK-MODY (6.1%, P = 0.005). Four (13.3%) GCK-MODY patients had persistent proteinuria or neuropathy of undetermined cause. CONCLUSION:The current guidelines to consider a diagnosis of MODY may not apply to a racially/ethnically diverse US population of children with diabetes.