hrp0094p2-244 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Genetic Testing Access and Results for Patients with Congenital Hyperinsulinism as Conducted through the CHI and University of Exeter Partnership

Pasquini Tai L.S. , Houghton Jayne A.L. , Mesfin Mahlet , Flanagan Sarah E. , Raskin Julie ,

Background and Aims: Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. The disease may occur in isolation or can present as part of a syndrome. Routine screening of the known etiological genes (n = >20) identifies a disease-causing mutation in 40-50% of all cases. An accurate and timely genetic diagnosis is clinically important for all individuals as understanding the unde...