Endocrine Abstracts

Introduction: Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes caused by mutations in islet-related genes characterized by early-onset and inheritance in an autosomal dominant manner. MODY accounts for 2 to 5% of all cases of diabetes. The clinical presentation is heterogenous. Our aim was to characterize clinical features of patients with MODY in our department.

Methods: We retrospectively analysed MODY diabetes cases diagnosed at the Endocrinology Pediatric Unit (EPU) and at the adult Endocrinology Department (ED) of our hospital, from 2000 to 2017.

Results: We found 8 patients diagnosed at the EPU and 4 at the ED adult. Two pairs of them are sisters. The majority are female (n=10), with an average age at diagnosis of 12 years-old (IQR 7-16). All had family history of diabetes. Genetic confirmation of MODY was obtained 48 months after clinical diagnosis of diabetes (IQR 19-77). None presented diabetic ketoacidosis at diagnosis. Negative islet autoantibodies were observed in all. The median HbA1c at diagnosis was 7.5% (IQR 6.4–8.3). Regarding the type of MODY, 8 presented GCK mutation (MODY 2), 3 HNF1A mutation (MODY 3) and 1 HNF1B mutation (MODY 5). In patients with MODY 2, one is not currently under oral antidiabetic drugs, one is treated with insulin and the remaining with metformin and/or dipeptidyl peptidase-4 inhibitor. The 3 patients with MODY 3 are under a sulfonylurea and the patient with MODY 5 is treated with insulin in a basal bolus scheme.

Discussion: The diagnosis of MODY requires a high index of suspicion. Therefore, in a patient with family history of diabetes, negative islet autoantibodies and diabetes onset <25 years, a diagnosis of MODY should be suspected. Our series revealed a considerable delay until the confirmation of MODY, which supports the increased awareness warranted for this entity.