Endocrine Abstracts

Neonatal Diabetes: A Challenging Case Scenario and Therapeutic Considerations Neonatal diabetes is a rare form of diabetes mellitus that presents in the first six months of life. This abstract highlights a challenging case scenario of neonatal diabetes and provides insights into the diagnostic approach, therapeutic considerations, and long-term management strategies. The case involves a term male neonate who presented with severe hyperglycemia, polyuria, and failure to thrive. Initial investigations revealed persistently elevated blood glucose levels, and further evaluation led to a diagnosis of neonatal diabetes. Genetic testing identified a novel mutation in the KCNJ11 gene, confirming the diagnosis of permanent neonatal diabetes. The therapeutic management of this case required a multidisciplinary approach, involving pediatric endocrinologists, geneticists, and intensive care specialists. Insulin therapy was initiated promptly to achieve glycemic control, and careful monitoring of blood glucose levels and nutritional intake was implemented. Genetic counseling was provided to the parents, elucidating the autosomal dominant inheritance pattern of the KCNJ11 mutation and its implications for future family planning. Long-term management involved regular follow-up visits to assess growth, development, and glycemic control oral hypoglycemic drug of glbenclamide, Adjustment of insulin doses was carried and later able to stop. The importance of diabetes education and support for the family was emphasized to facilitate adherence to treatment and optimize outcomes. This case scenario highlights the complex nature of neonatal diabetes and the significance of early diagnosis and appropriate management. It also highlights the unique feature of response to oral hypoglycemic agent.Genetic testing played a crucial role in confirming the diagnosis and guiding treatment decisions. Multidisciplinary collaboration and ongoing patient monitoring are essential for achieving optimal glycemic control and minimizing the risk of long-term complications. In conclusion, this case scenario underscores the challenges encountered in the diagnosis and management of neonatal diabetes. It emphasizes the importance of a comprehensive approach involving genetic testing, individualized therapy, and long-term follow-up to optimize the care and outcomes of infants with this rare condition.