Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096ep41 | Fetal, Neonatal Endocrinology and Metabolism | IMPE2023

Two cases of diffuse forms of diazoxide-responsive congenital hyperinsulinism with positive PET-CT findings

Yu Jeesuk , Yang Jaejin , Joo Son Hye

Congenital hyperinsulinism is one of the most common causes of severe hypoglycemia in infants. Case 1. A 9-year-old girl had her first hypoglycemic seizure at the age of 65 days. Her blood glucose, insulin, C-peptide, cortisol, and ammonia levels were 42 mg/dL, 37.14U/mL, 4.20 ng/mL, 21.85 mg/dL and 54 mg/dL, respectively. Diazoxide was started and she was referred to our Pediatric Endocrinology Clinic at 9 months. Genetic investigation, including whole exome sequencing, did n...