Searchable abstracts of presentations at key conferences in endocrinology

ea0016p602 | Paediatric endocrinology | ECE2008

Molecular genetic analysis of a patient with hyperinsulinism and deafness

Brusgaard Klaus , Albalwi Mohammed , Svargo Lone , Christesen Henrik

Congenital hypoglycemic hyperinsulinemia (CHI) is a clinical and genetic heterogeneous entity. Clinical manifestations can vary from serious life threatening to milder difficultly identifiable cases. Children who do not react adequate to medical treatment are subject to pancreatic recession. The molecular ethiology are from recessive mutations of the ABCC8 (SUR1) and KCNJ11 (Kir6.2) to dominant mutations of the GCK or GDH genes. Focal dysplasia char...