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Findings
What does this paper add?
- This paper presents a patient case, along with a discussion of the literature.
- The 20-year-old man had hyperglycaemia; examination of family history revealed two generations of paternal diabetes at a young age, plus maternal history of gestational diabetes.
- A diagnosis of MODY-monogenic diabetes should be considered in those with atypical features of diabetes, negative antibodies, neonatal hypoglycemia, or multiple family members with diabetes not characteristic of type 1 or 2 diabetes.
- Diagnostic testing should include fasting serum glucose, C-peptide, HbA1c, and three islet-cell antibodies (GADA, IA-2A, and ZnT8).
- Specific features of MODY-monogenic diabetes may depend on the gene mutation involved, and molecular genetic testing can be used to identify the cause.
- The most common genetic variants are GCK-MODY, HNF1A-MODY, and HNF4A-MODY.
