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Neonatal diabetes mellitus (NDM) is a rare form of diabetes that manifests within the first six months of life, presenting a unique set of challenges in both diagnosis and management. This early-onset diabetes is characterized by impaired insulin production, leading to elevated blood glucose levels in neonates. Unlike the more common types of diabetes, NDM is not typically associated with autoimmune factors, making it distinct in its pathogenesis. The clinical presentation varies widely, encompassing symptoms such as hyperglycaemia, failure to thrive, dehydration, and, in severe cases, ketoacidosis. Genetic mutations play a pivotal role in the development of NDM, with several key genes implicated, including those encoding for pancreatic beta-cell function. The intricate interplay between these genetic factors underscores the heterogeneous nature of NDM, as it can be either transient or permanent. Diagnosis involves genetic testing and meticulous clinical evaluation, often necessitating a multidisciplinary approach involving paediatric endocrinologists, geneticists, and neonatologists. Management of NDM is complex, aiming to achieve glycaemic control while addressing the specific genetic etiology. Insulin therapy is the mainstay for glycaemic management, and advancements in genetic testing have enabled personalized treatment approaches. Despite its rarity, NDM exemplifies the intersection of genetics and endocrinology, offering insights into the intricate mechanisms governing neonatal glucose homeostasis and providing a unique paradigm for understanding the broader spectrum of diabetes pathophysiology. As research continues to unravel the molecular underpinnings of NDM, promising avenues for targeted therapies and enhanced clinical outcomes emerge, fostering hope for improved quality of life for affected neonates and their families.
