Endocrine Abstracts

A 42-year-old woman presented to her GP with episodes of feeling ‘shaky’ exacerbated by physical exercise and prolonged fast. She was previously diagnosed with an insulinoma in 2006 (serum glucose 1.6 mmol/l, serum insulin 3.1 mIU/l and serum C-peptide <165 pmol/l). CT abdomen /transabdominal ultrasound revealed a 1 cm insulinoma in the uncinate process of the pancreas and the patient later underwent pancreatic enucleation in 2006. Post pancreatic enucleation, 72...

Introduction: Simultaneous pancreatic kidney transplantation (SPK) has become the therapy of choice in patients with type 1 diabetes mellitus (DM) and end stage diabetic nephropathy.Methods: An analysis was performed of type 1 diabetic patients with end stage diabetic nephropathy who received treatment with SPK between 2001–2011 in the South West of Ireland, population 663,176 with a prevalence of type 1 DM in this region estimated to be 0.3%. Data ...

Introduction: Xanthoma disseminatum (XD) is a rare, non - familial disease characterised by lipid deposition in skin and internal organs due to histiocytic cell proliferation, classified as a non-Langerhans cell histiocytosis. The disease is characterised by symmetrically distributed, coalescing cutaneous papules, initially red–brown then yellow involving the face, trunk, flexural and intertriginous areas. Involvement of mucous membranes has been reported. The upper and l...

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical ...

Background: Intra-uterine growth restriction (IUGR) is a known risk factor for the development of hyperinsulinaemic hypoglycaemia (HH). The phenotype of a large cohort of neonates who develop HH following IUGR has not been studied previously.Aim: To characterise the clinical aspects of a cohort of neonates with IUGR who developed HH.Methodology: Thirty-nine patients with IUGR (defined as birth weight <10th centile) who presente...

Rheumatoid arthritis (RA) is associated with a loss of lean mass and a corresponding increase in fat mass. How fat accumulation in RA is linked to synovial inflammation is unknown. Wnts comprise a family of secreted glycoproteins that are crucial in regulating adipocyte proliferation, apoptosis and differentiation. Recently we demonstrated that endogenously generated glucocorticoids (GCs) alter the pattern of wnt secretion by synovial fibroblasts (SFs), favouring production of...

Attenuated glucoprivic feeding responses are a feature of hypoglycaemic unawareness in insulin-treated diabetes. Glucose alters the activity of hypothalamic neurones involved in regulating appetite. Arcuate nucleus (ARC) Neuropeptide Y (NPY) releasing neurones stimulate feeding. The identification of glucose-sensitive NPY releasing hypothalamic neurones suggests a strong role for these neurones in mediating changes in appetite induced by alterations of glucose. To gain a bette...

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI.Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI.Methodology: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to geno...

Background: HADH encodes for the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase (HADH) and catalyses the penultimate reaction in the beta-oxidation of fatty acids. Mutations in the HADH gene have recently been described to cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). Protein sensitive HH (specifically leucine sensitivity), is also associated with the hyperinsulinism-hyperammonaemia syndrome (HI/HA syndrome) caused by activating mutations of GLUD1 ...

Introduction: Obesity is one of the biggest health challenges we currently face. Obesity results from imbalance of energy consumption and expenditure. Genetic studies on monogenic forms of obesity and Genome Wide Association studies have revealed neuronal mechanisms of genesis of obesity and/or leanness. We report a novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat.Case report: The proband is a whit...