Endocrine Abstracts

JOINT3631

Introduction: Congenital hyperinsulinism (CHI) is a rare but serious cause of persistent hypoglycemia in neonates and infants.

Case Report: This case report describes the diagnosis of CHI in a 1-month-old girl in Kazakhstan, marking the country’s first use of an 18F-DOPA PET/CT scan for this condition. The patient was admitted to the endocrine unit with severe, persistent hypoglycemia and underwent further investigation. Historically, CHI diagnoses in Kazakhstan were based primarily on clinical and laboratory findings, as genetic testing and PET/CT scans were not available due to the unavailability of the 18F-DOPA isotope. This case highlights the successful use of 18F-DOPA PET/CT imaging, which helped identify the diffuse variant of CHI. Despite initial treatment with diazoxide, the patient’s condition remained unstable, but she showed improvement with subcutaneous octreotide injections, which effectively stabilized her blood sugar levels.

Conclusions: This case represents the first use of 18F-DOPA PET/CT imaging in Kazakhstan for diagnosing congenital hyperinsulinism and underscores the importance of expanding access to advanced diagnostic tools and therapies in managing rare and complex endocrine disorders. Timely diagnosis and appropriate treatment are critical to improving patient outcomes in such cases.