Endocrine Abstracts

Introduction: Patients with adrenal incidentalomas and sub-clinical Cushing’s (SCH) have increased cardiovascular events and mortality. We hypothesised that these patients have a disturbed cortisol rhythm amenable to being restored to normal by using timed short-acting cortisol synthesis blockade, and that this may have a positive effect on IL6 levels.Methods: In a phase 1, prospective study (Eudract No. 2012-002586-35) we recruited eight patients w...

Introduction: Measuring serum cortisol to evaluate the normal circadian rhythm and adequacy of hydrocortisone replacement levels requires multiple readings; an expensive, cumbersome process. Conversely, salivary cortisone, a surrogate marker for free cortisol levels is non-invasive and well suited for out-patient settings. We hypothesised that salivary cortisone predicts circulating cortisol levels and can be used as an alternative marker of serum cortisol in a physiological s...

Background: Phaeochromocytoma/paraganglioma (PCC/PGL) are rare in children and young people (CYP) under 19 years of age. National registry data reveal an annual incidence between 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition and can present a significant management challenge.Aims: We aimed to provide the first interdisciplinary management guidelines using the AGREEII frame...

A 58-year-old gentlemen presented with severe neckache, sweating, feeling hot, and cold. PMH included hypertension and MI. On examination, he was clammy, with blood pressure (BP) 205/107 mmHg. Laboratory results showed leucocytosis 28.5 and TroponinT 2002 ng/l (reference range <14.0). ECG showed inferolateral ST depression. CT angiogram showed a normal aorta and a 6 cm right adrenal mass. An echocardiogram showed severe LV impairment and normal valves.<p class="abstext...

Background: SDH mutations cause about 80% of familial pheochromocytomas / paragangliomas (1). Although mutations in each subunit are associated with a particular clinical spectrum of disease, there is no clear genotype-phenotype correlation of a specific mutation, nor with penetrance of disease. We report characteristics of patients with SDH mutations seen in a single dedicated tertiary referral clinic.Methods: A retrospective observational study of pati...

Laboratory rats are commonly used to study energy homeostasis. To accurately record food intake or energy expenditure it is necessary to house rats individually, which can be stressful for social animals. Environmental enrichment may reduce stress and improve welfare in laboratory rodents. However, the effect of environmental enrichment on food intake and thus experimental outcome in rats is unknown. We aimed to determine the effect of environmental enrichment on food intake, ...

Background: Multiple endocrine neoplasia type 1 (MEN1) is an inherited cancer syndrome characterized by the development of tumours in at least two of the following three main sites: parathyroid, pituitary and endocrine pancreas. Hyperparathyroidism is the most common presenting feature, with a typical age at onset of 20-25 years, and > 90% penetrance by 40 years. After extended family studies, an index case may have no affected relatives and be apparently 'isolated'. We rep...

Introduction: Blood glucose control in insulin-dependent diabetes is heavily influenced by compliance, and how insulin is administered, which is emphasised to those with diabetes. However, when a patient is admitted to hospital, the administration of insulin is often by a nurse. The aim of this study was therefore to assess the knowledge of nurses around this subject, and to identify if there was a need for further training.Method: We conducted a prospec...

Introduction: TNDM due to genetic aberrations at 6q24 is the commonest cause of diabetes presenting within the first week of life. TNDM predisposes to diabetes mellitus in later life. We report on the clinical presentation of the largest worldwide cohort of 6q24 TNDM cases.Results: 164 cases were analysed. The mean age of presentation was 8 days with a mode of 1 day and maximum age of presentation of 90 days. On average, babies recovered by 4.5 months wi...

Previous research concerning the cognitive profile of children with CHI has identified a high incidence of significant learning difficulty (Rother et al. 2001, Jack et al. 2003). Both studies report an incidence of 30 to 50% cognitive skills within the learning disability range in both study populations. Furthermore, Rother et al. (2001) suggested that all children investigated demonstrated some form of cognitive difficulty, ranging from learning disabilit...