Searchable abstracts of presentations at key conferences in endocrinology

ea0045oc8.7 | Oral Communications 8- Diabetes | BSPED2016

Clarifying the natural history of human insulin receptoropathy

Johnston David , Bulger David , Harris Julie , Semple Robert

Background: Insulin resistance is the reduced responsiveness of the body to the glucose-lowering activity of insulin. It is usually associated with obesity, but in a minority of patients, this is not the case. Single gene mutations can often be found in such patients, some of which affect the insulin receptor (INSR). There is a spectrum of genetic insulin receptoropathies. These can be considered as two groups. One group comprises rare, severe, autosomal recessive disorders: D...

ea0034oc6.3 | Clinical | SFEBES2014

Sirolimus therapy for a patient with segmental overgrowth due to a mosaic activating mutation in phosphatidylinositol-3-kinase

Parker Victoria , Huson Susan , Isaac Iona , Harris Julie , Payne Felicity , Lindhurst Marjorie , Barroso Ines , Biesecker Leslie , Semple Robert

Background: Phosphatidylinositol-3-kinase (PI3K) is a critical mediator of insulin action, and influences cellular growth, survival and metabolism. Recently, somatic gain-of-function mutations in the p110α catalytic subunit of PI3K (PIK3CA) have been found in a spectrum of overgrowth disorders, outlining the possibility of treatment with inhibitors of the PI3K–AKT–mTOR pathway.Methods/Results: A 37-year-old female, presented with life-long...

ea0034p235 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

Novel syndromes of hypoinsulinaemic, hypoketotic hypoglycaemia

Leiter Sarah , Minic Marina , Parker Victoria , Harris Julie , Hamilton-Shield Julian , Williams Rachel , Korsch Eckhard , Hussain Khalid , Semple Robert

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...

ea0031p225 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2013

Non-alcoholic fatty liver disease in patients attending the National Severe Insulin Resistance Service

Leiter Sarah M , Sleigh Alison , Adams Claire , Harris Julie , Lomas David J , Allison Michael , Semple Robert , Savage David , Stears Anna

Introduction: The prevalence of non-alcoholic fatty liver disease (NAFLD) is greatly increased in patients with lipodystrophy and some other forms of severe insulin resistance. Liver biopsy remains the definitive technique for diagnosis and staging of NAFLD. However, non-invasive techniques, such as magnetic resonance spectroscopy (MRS) and magnetic resonance imaging (MRI) are increasingly used to assess response to therapeutic interventions. The National Severe Insulin Resist...