Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth
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Implication
Multicenter cohort study reveals frequent misdiagnosis of MODY in youth with diabetes, highlighting widespread underdiagnosis and unnecessary insulin therapy.
Key Points
- To determine the frequency of MODY mutations (HNF1A, HNF4A, and glucokinase) in youth with diabetes and evaluate how effectively clinical features identify affected individuals.
- Genomic DNA was sequenced for HNF1A, HNF4A, and glucokinase mutations in N=586 participants diagnosed with diabetes under age 20 years from the multicenter US SEARCH for Diabetes in Youth study (enrolled 2001–2006).
- Inclusion criteria required negative diabetes autoantibodies and fasting C-peptide levels ≥0.8 ng/mL.
- Mutations were identified in 47 participants (8.0% of the tested cohort), representing a population prevalence of at least 1.2% in pediatric diabetes cases.
- Only 3 of the 47 mutation-positive individuals (6.4%) had a prior clinical diagnosis of MODY, and the majority were treated with insulin.
- MODY-positive participants had significantly lower fasting C-peptide levels compared to MODY-negative individuals (2.2 ± 1.4 vs. 3.2 ± 2.1 ng/mL, P < 0.01) and fewer type 2 diabetes-like metabolic features, while parental diabetes history did not differ significantly.
Cite This Study
Pihoker et al. (2013) studied this question.