Endocrine Abstracts

Introduction: Mitochondria are critical organelles which generate most of the energy (ATP) in the eukaryotic cell by oxidative phosphorylation. Impaired mitochondrial function will, therefore, restrict myocellular function. Vitamin D deficiency is widely prevalent with fatigue amongst its commonest manifestation. 31P-MRS is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. We have examined the relationship between vitamin D and mitochon...

Introduction: The vitamin D (25OHD) status of a population will reflect genetic and environmental factors. We evaluated all 25OHD assays undertaken at a regional centre in an area at high risk of vitamin D deficiency, over a 10 year period on the basis that this would provide insight into annual, seasonal and age based trends in 25OHD status. We planned to correlate vitamin D measurement with trends in vitamin D prescribing.Methods: Data (66 694 samples)...

Background: Diabetic ketoacidosis (DKA) remains the leading cause of morbidity and mortality in children with type 1 diabetes. In the past few years, both the International Society for Paediatric and Adolescent Diabetes (ISPAD) and the British Society for Paediatric Endocrinology and Diabetes (BSPED) have recommended key changes in the management of DKA. These changes incorporate new evidence to reduce the incidence of cerebral oedema and the increased use of insulin pumps.</p...

Introduction: Even though fatigue is a common complaint in GH deficiency (GHD), its pathophysiology remains poorly understood. Fatigue can reflect central or peripheral disease processes. 31-Phosphorus magnetic resonance spectroscopy (31P-MRS) is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. Specifically, mitochondrial oxidative phosphorylation and proton efflux can be measured dynamically and in ‘real time’. The ai...

Background: Craniopharyngiomas are rare tumours with an annual incidence of 0.5–2/100 000. Though benign they still represent a management challenge because of morbidity that includes pituitary hormone deficiency, visual impairment, adipsia and morbid obesity. We retrospectively assessed the outcomes of craniopharyngioma patients in our centre over a 10-year period.Methods: All children (n=16) diagnosed with craniopharyngioma and treated in t...

Mutations in the ACTH receptor (Melanocortin 2 receptor/MC2R) are associated with Familial Glucocorticoid Deficiency/FGD. FGD is an autosomal recessive disorder that results from ACTH insensitivity at the adrenal cortex. However, only about 25% of FGD are caused by mutations in the MC2R suggesting the genetically heterogeneous nature of the disease. The transfection-mediated functional expression of the MC2R can only be achieved in cell lines of adrenal origin implying that th...

The human CYP17A1 enzyme exerts two activities, 17a-hydroxylase and 17,20 lyase, catalysing key steps in human adrenal steroid biosynthesis. An in frame deletion of 3 bp in exon 1 of the CYP17A1 gene, resulting in the loss of phenylalanine in position 53 (F53del), is one of the first CYP17A1 mutations described (JBC 1989, 264:18076). Reported patients have invariably presented with severe hypokalaemic hypertension, reflecting 17α-hydoxylase deficiency, and s...

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Familial Glucocorticoid Deficiency type 2 (patients with normal MC2R) is associated with mutations in the MRAP (Melanocortin Receptor Accessory Protein) gene. In order to investigate the function of this novel single transmembrane domain protein, CHO and SKN-SH cells were transfected with MRAP-FLAG and/or MC2R-GFP constructs and imaged using confocal microscopy. Although the MC2R-GFP failed to be expressed at the cell surface when transfected alone, it was found to be expresse...

Background: Arginine Vasopressin (AVP) measurement is difficult. When available there has historically been a lengthy interval between sampling and a result. Co-peptin is a 39 amino-acid glycopeptide that is derived from a pre-prohormone consisting of AVP, neurophysin II and co-peptin. It is released in an equimolar ratio with AVP into the circulation. Co-peptin is stable and can be used as a surrogate marker of AVP release in hyper and hypo-osmolar disorders. Many laboratorie...