MODY 2 Diabetes: An Unusual Presentation of Diabetes

Diabetes mellitus includes a heterogeneous mix of metabolic diseases characterized by chronic hyperglycemia. Some forms of this illness respond to specific etiological or pathogenic characteristics, but the underlying etiology is unknown. The most common varieties of diabetes mellitus are Type 1 and Type 2, but there are other types. Numerous common polymorphisms (approximately 50 to date) weakly contribute to the risk for or protection from type 2 diabetes. The genes encode proteins that cause alterations in several pathways leading to diabetes, including pancreatic development, insulin synthesis, processing, and secretion; amyloid deposition in beta cells; cellular insulin resistance; and impaired regulation of gluconeogenesis. In this article, we are focusing on the functional congenital defects of beta cells usually present in these not so frequent types of diabetes. MODY diabetes (Maturity Onset Diabetes of the Young) is a clinically heterogeneous disease characterized by non-dependent insulin diabetes diagnosed early (< 25 years of age) with dominant autosomal transmission and absence of auto-antibodies [1]. It is the most frequent form of monogenic diabetes, representing 2% –5% of diabetes cases [2,3]. It is estimated that this form represents 68 to 108 cases per million people [4]. Patients present a heterogeneous population making extremely difficult to predict an underlying pathogenesis [5,6]. Many patients are misclassified as Type 1 or Type 2 diabetes. Several different genetic abnormalities have been identified, each leading to a different type of disease (Table 1). The subtypes of MODY are defined by specific descriptions of the known genetic defects. The genes involved control pancreatic beta cell development, function, and regulation, and the mutations in these genes cause impaired glucose sensing and insulin secretion with minimal or no defect in insulin action [7-9] In this paper, we are describing the case of a 51 year old male patient diagnosed with MODY 2 diabetes.