ea0095oc4.2 | Oral Communications 4 | BSPED2023
Hawton Katherine
, Nath Stuart
, Kumar Yadlapalli
, Giri Dinesh
Introduction: Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia in the neonatal period and early childhood. FOXA2, a beta-cell transcription factor is localized at the cytogenetic location 20p11.2 and is critical for the development of pancreas and pituitary gland. We describe a child with 20p11.21 deletion e...