Endocrine Abstracts

Introduction: Survivors of childhood BMT/TBI have increased cardiovascular morbidity and GH deficiency (GHD). We aimed to investigate the relationship between cardiovascular risk and GHD and GHTx in BMT/TBI survivors.Methods: BMT/TBI survivors (n=36) and non-BMT control subjects (n=19) were sub-divided according to GH status assessed by insulin tolerance test: i) survivors with untreated GHD (N=18,11M), ii) survivors on GHTx (N</i...

Congenital hyperinsulinism (CHI) is a cause of severe and persistent hypoglycaemia due to unregulated insulin secretion from pancreatic β-cells. Mutations in the ABCC8 and KCNJ11 genes are the most common cause of medically unresponsive CHI. Histologically there are three major subgroups, focal, diffuse and atypical. The pathophysiology of focal CHI is complex and involves a two hit process with the patient firstly inheriting a paternal ABCC8/KCNJ11 m...

Background: Congenital hyperinsulinism (CHI) is cause of severe hyperinsulinaemic hypoglycaemia in the neonatal and infancy periods. Histologically there are three major subgroups, diffuse, focal and atypical. Patients with diffuse CHI who are medically unresponsive will require a near total pancreatectomy. This has traditionally been performed using an open surgical approach.Aims: To report our experience of laparoscopic near total pancreatectomy for me...

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes. It is due to genetic and epigenetic mechanisms affecting the balance of imprinted genes on chromosome 11p15.5. This region has two imprinted control regions, ICR1 and ICR2. ICR1 contains the genes H19 and IGF2 genes with H19 being maternally expressed and IGF2 paternally expressed. ICR2 contains the KCNQ1, KCNQ1OT1, and CDKN1C genes. Hypomethylation of KvDMR1 (an...