Genetic Perspectives and Targeted Therapy in Neonatal Diabetes: A Case Series (Code-T0310)

Introduction: Neonatal diabetes is a rare form of monogenic diabetes that manifests within the
first six months of life. It can be classified as transient, permanent, or syndromic. Genetic testing
plays a crucial role in determining the underlying mutation, guiding treatment strategies, and
improving prognosis. This study aims to highlight the significance of genetic analysis in
diagnosing and managing neonatal diabetes.
Aims and Objectives: The primary objective of this study is to evaluate the clinical and genetic
profiles of neonatal diabetes and assess the impact of precision therapy on disease management.
Methods: A case series of five children diagnosed with neonatal diabetes was followed over
three years. Each patient underwent genetic testing to identify causative mutations. Their clinical
presentation, genetic findings, and response to therapy were analyzed. Two patients with
KCNJ11 mutations were switched to sulfonylureas, while others continued insulin therapy.
Results: Among the five cases, four were diagnosed with permanent neonatal diabetes, and one
had transient neonatal diabetes. The age of onset ranged from 4 days to 2 months. Consanguinity
was noted in three patients. Diabetic ketoacidosis (DKA) was the most common presentation.
KCNJ11 mutations were the most frequently identified. Patients with KCNJ11 mutations
responded well to sulfonylurea therapy, avoiding lifelong insulin dependency.
Conclusion: Genetic analysis is essential for distinguishing transient from permanent neonatal
diabetes. Identifying mutations like KCNJ11 and ABCC8 can allow for a transition to
sulfonylureas, reducing insulin dependence and improving long-term outcomes.
Keywords: Neonatal diabetes, monogenic diabetes, genetic testing, KCNJ11 mutation,
sulfonylurea therapy, precision medicine.