Endocrine Abstracts (2017) 49 EP496 | DOI: 10.1530/endoabs.49.EP496

Maturity onset diabetes of the young - clinical characteristics of a portuguese cohort

Ana Amado, Raquel Almeida, André Carvalho, Cláudia Amaral, Cláudia Freitas, Conceição Bacelar, Joana Vilaverde, Maria Helena Cardoso, Sofia Teixeira & Fátima Borges

Endocrinology Department, Centro Hospitalar e Universitário do Porto, Porto, Portugal.

Introduction: Maturity onset diabetes of the young (MODY) accounts for 1-2% of all forms of diabetes mellitus (DM). As classic criteria that lead to its suspicion have low sensitivity, patients are often misdiagnosed with type 1 or type 2 DM. Correct classification of this type of diabetes becomes essential for proper management of the disease. Our objective was to describe clinical features of patients with MODY diagnosed at our institution.

Methods: We collected clinical data from patients with clinical characteristics and genetic confirmation of MODY.

Results: We included 30 patients (15 females). All patients but one had diagnosis of DM (one female had gestational diabetes, but currently has no criteria for diabetes). Mean age at diagnosis of DM and MODY was 27.5+/−10.8 and 46.3+/−13.2 years, respectively. Genetic testing was positive for mutation in the Glucokinase (GCK) gene in 3 patients, the ATP-binding cassette transporter sub-family C member 8 (ABCC8) gene in 1 patient and the hepatocyte nuclear factor-1 homeobox A (HNF1A) gene in 26 patients. Currently, 9 patients are exclusively treated with oral antidiabetic agents and 3 patients have no pharmacological treatment. Last mean HbA1c was 7.5+/− 1.3%. Peripheral neuropathy was diagnosed in 11 patients (36.7%), autonomic neuropathy in 5 patients (16.7%), diabetic retinopathy in 16 patients (53.3%), diabetic kidney disease in 11 patients (36.7%), ischemic cardiac disease in 2 patients (6.7%), vascular cerebral disease in 3 patients (10%) and peripheral arterial disease in 4 patients (13.3%).

Conclusions: There is a relevant delay in MODY diagnosis and clinicians should be alert for this type of diabetes. The most frequent mutation identified in our population was in the HNF1A gene. This study confirms the clinical heterogeneity of MODY patients.

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