Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?
GCK-MODY and HNF1A-MODY are the most common subtypes of Maturity Onset Diabetes of the Young (MODY) [1, 2, 3]. HNF1A-MODY mutation carriers may respond to sulfonylureas, while GCK-MODY does not necessitate therapy; therefore, molecular diagnosis is instrumental to guide therapeutic decision. In many laboratories next-generation sequencing is not available yet, and genetic testing of common MODY genes is performed using Sanger DNA sequencing. Thus, establishing which gene has to be screened first is mainly based on clinician expertise. Though HNF1A mutation carriers are frequently diagnosed with overt diabetes, both GCK-MODY and HNF1A-MODY can present with impaired fasting glucose (IFG). In the latter case, oral glucose tolerance test (OGTT) may help to distinguish between the two types ; however, a less expensive and time-consuming test would be preferable. GCK-MODY is usually considered in pediatric patients negative to type 1 diabetes (T1D)-related autoantibodies and stable, mild...
KeywordsMaturity Onset Diabetes of the Young/MODY HbA1c Differential diagnosis Fasting plasma glucose
All Authors and contributors researched data and critically reviewed the paper. MD collected data, performed statistics and drafted the paper. AN performed statistics. FB, the guarantor of the paper, conceived the study, collected data, and critically revised the manuscript.
Compliance with ethical standards
Conflict of interest
Authors have no conflict of interest to declare.
Human and animal rights
All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committe and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Fot this type of study formal consent is not required.
- 1.Delvecchio M, Mozzillo E, Salzano G et al (2017) Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED). Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012. J Clin Endocrinol Metab 102:1826–1834CrossRefPubMedGoogle Scholar