Endocrine Abstracts

JOINT3743

Introduction: Idiopathic ketotic hypoglycemia (IKH) is the most common cause of recurrent fasting hypoglycemia in young children. It is characterized by fasting-induced hypoglycemia with ketosis in the absence of identifiable endocrine or metabolic disorders. While IKH is often considered benign, it requires careful differentiation from other hypoglycemic conditions such as hyperinsulinism, adrenal insufficiency, and glycogen storage diseases. This case highlights a 4-year-old boy from Kazakhstan, focusing on diagnostic challenges, management, and the role of genetic testing.

Case presentation: We present the case of a 4-year-old boy admitted with recurrent early morning episodes of hypoglycemia (2.0–2.6 mmol/l)associated with lethargy and altered consciousness. These episodes had been occurring since the age of 2 and were unrelated to infections or prolonged fasting. Upon clinical evaluation, his growth parameters were normal (height 109 cm, weight 18.5 kg, BMI 15.15 kg/m², SDS -0.36). Laboratory findings during hypoglycemia revealed ketosis, elevated lactate (3.89 mmol/L), and low insulin (0.20 μIU/ml) and C-peptide (0.27 ng/ml) levels. Endocrinological workup ruled out hyperinsulinism, adrenal insufficiency, and growth hormone deficiency. Genetic testing (3B-EXOME, Proband) revealed no pathogenic variants, confirming the diagnosis of idiopathic ketotic hypoglycemia. Management included frequent meals, uncooked cornstarch supplementation, and education on emergency hypoglycemia management using oral glucose and glucagon.

Conclusion: IKH is a diagnosis of exclusion, requiring thorough evaluations to rule out metabolic and endocrine disorders. This case demonstrates the role of genetic testing in confirming the diagnosis and the importance of tailored dietary strategies and family education in preventing severe hypoglycemia. A multidisciplinary approach is essential for effective management of this rare condition. Future research should focus on identifying potential genetic or metabolic biomarkers that could aid in earlier and more precise diagnosis. Additionally, investigating novel dietary or pharmacological interventions may help improve long-term management and prevent severe hypoglycemic episodes in affected children.