Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a rare condition affecting steroid-hormone synthesis. We reviewed the investigation and management of children with CAH against current international guidelines and explored variation by region and specialty of responsible clinician.Methods: Active national surveillance of new diagnoses of CAH in children under age 16 years and resident in Great Britain, undertaken prospectively from 2007 to 2009....

Ipilimumab is an immunomodulating agent for the treatment of metastatic melanoma. Ipilimumab is a human mAb which works by inhibiting cytotoxic T-lymphocyte antigen 4 (CTLA-4).CTLA4 typically works to down-regulate the T-cell response and protects self-antigens from recognition by the immune system. Since the T-cells are no longer down-regulated by this antigen, they are allowed to proliferate, thereby helping to prevent melanoma tumor evasion. As a resu...

Introduction: The management of type 1 diabetes (T1D) in young children can be extremely challenging due to high insulin sensitivity, unpredictable eating and activity and difficulty recognizing symptoms of hypoglycaemia. Continuous subcutaneous insulin infusion (CSII) therapy is beneficial in managing young children, however the small insulin doses required challenge the accuracy of standard concentration (100 IU/ml) CSII.Case report and literature revi...

Variation in the human glucocorticoid receptor (GR) gene associates with relative glucocorticoid resistance, hypertension and increased cardiovascular disease risk. Mice heterozygous for a null GR mutation (GR+/−) are also glucocorticoid resistant with raised circulating glucocorticoid levels and elevated blood pressure in adulthood. We have characterised the cardiac phenotype of these mice throughout development and investigated their response to cardiovascul...

2–3% of the UK population are prescribed glucocorticoid (GC) therapy and their adverse effects contribute to a significant health burden. Suppression of endogenous GC secretion is a recognized complication of therapy, but the magnitude of the problem, together with its clinical consequences have not been determined. We conducted a retrospective study across all specialties in a large secondary–tertiary care center identifying 2782 patients who underwent 3666 250 &#95...

Background: Training is adolescent health and transition is lacking in medical education. Clinicians working in diabetes and endocrinology across paediatric and adult services need to have the skills to work effectively with this age group. Our aim was to identify the current state of training and to ascertain training needs in trainees.Methods: A questionnaire was developed based on existing questionnaires. Using trainee representatives all paediatric a...

Exercise has undisputed health benefits mediated through metabolic adaptation in skeletal muscle. In contrast, a sedentary lifestyle, leads to impaired metabolic function and negative health outcomes such as insulin resistance and sarcopenia. Whilst exercise improves skeletal muscle metabolism, how the process is co-ordinated at a cellular level remains unclear. Recently, NAD+ has been suggested to play an important role in muscle adaptation, acting as a substrate f...

Alstrom syndrome is an autosomal recessive ciliopathy that is characterised by increased body mass index, type 2 diabetes, retinal dystrophy, sensorineural hearing loss, cardiac fibrosis, and chronic kidney disease. Non-alcoholic fatty liver disease (NAFLD) in Alstrom patients ranges from simple steatosis, steatohepatitis and ultimately to fibrosis and cirrhosis. Nafld fibrosis score (http://nalfdscore.com/), enhanced liver fibrosis (ELF)-panel blood tests and Fibroscans are n...

Background: Bisphosphonates are effective in malignancy-related hypercalcemia and have been beneficial in parathyroid-hormone (PTH)-dependent hypercalcemia in small randomized-controlled trials. However, data regarding efficacy and safety in PTH-dependent hypercalcemia is limited, and pamidronate is not indicated for this condition.Objective: To evaluate efficacy and safety of pamidronate in moderate-severe PTH-dependent hypercalcemia. Control groups wer...

Background: Adult survivors of childhood acute lymphoblastic leukaemia (ALL) treated with bone marrow transplantation (BMT) and total body irradiation (TBI) have increased risk of impaired glucose tolerance (IGT) and diabetes mellitus (DM). Insulin resistance (IR) has been described, but effects of TBI on pancreatic growth and β-cell function have not been previously reported.Method: Two groups of childhood ALL survivors were studied: Group 1, treat...