ESPE Abstracts

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...