Endocrine Abstracts

Congenital hyperinsulinaemic hypoglycaemia is generally characterised by low levels of ketone bodies, fatty acids and branched chain amino acids at the time of severe hypoglycaemia, and by a requirement for a relatively high rate of glucose infusion (>10 mg/kg per min) to maintain euglycaemia. It is caused by physiologically inappropriate insulin secretion from the pancreatic beta cells due to mutations that uncouple insulin secretion from normal hyperglycaemic and other s...

Introduction: Hyperinsulinaemic hypoglycaemia (HH), characterized by unregulated insulin secretion from pancreatic β-cells, is an important cause of hypoglycaemia in children. Mutations in the KATP channel genes (ABCC8/KCNJ11) are the most common cause of congenital HH. The second common cause, hyperinsulinism hyperammonaemia (HIHA) syndrome caused by mutations in GLUD1 gene, is associated with elevated serum ammonia and protein sensitivity. W...

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...

Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period.Aims: To report the diagnostic pitfalls with bedside blood glucose testing in a neonate with combined ...

Background: The pancreatic β-cell KATP channel plays a key role in glucose stimulated insulin secretion and is encoded by the genes ABCC8 and KCNJ11. Recessive mutations in ABCC8/KCNJ11 cause severe medically unresponsive HH. Recently, dominant mutations in these genes have been described that cause mild, medically responsive HH. Controversy exists on whether these dominant ABCC8/KCNJ11 mutations predispose to diabetes mellitus in ad...

Pituitary tumourigenesis is a complex and poorly understood process. Crucial to the initiation and growth of such tumours is the oncogene PTTG, which stimulates FGF-2-mediated angiogenesis. We recently investigated expression of the angiogenic factor VEGF and its receptor KDR in 103 pituitary tumours. Non-functioning tumours demonstrated markedly raised VEGF mRNA (3.2-fold, P<0.05) and protein levels compared to normal pituitaries (N=10). KDR was also highly induced in NFTs...

Introduction: Disorders of sexual development (DSDs) are estimated to occur in 1 in 4500 births. This potentially represents one baby born every other day in the UK. We aim to explore how Mersey foundation and paediatric trainees deal with newborn babies with possible DSD and identify if there is a need for further training in this subject.Methods: An online survey composed of 10 questions was distributed amongst foundation and paediatric trainees in Mer...

Introduction: The insulin tolerance test (ITT) and glucagon stimulation test (GST) stimulate the release of both growth hormone (GH) and cortisol. A normal cortisol response is considered to be >500 nmo/l, however there are no robust normative paediatric data. Cortisol results may generate anxiety and further investigations in short children, tested for GH deficiency, with no clinical suggestion of cortisol deficiency.Aim: To describe cortisol respon...

Background: Bone metastases (BMs) are rare in neuroendocrine neoplasms (NENs). There is no global consensus on the optimal management, and treatment is often extrapolated from experience in other tumour groups. The aim of this study was to review the current management and outcomes of patients with BMs in NENs.Method: A retrospective study was performed of all patients with NENs, except G3 lung NENs, treated at a tertiary centre from April 2002–Marc...