Endocrine Abstracts

Aldosterone plays a key role regulating electrolyte homeostasis and blood pressure. An elevated aldosterone to renin ratio is present in 15% of hypertensive patients but the causes of aldosterone excess are not fully understood. There is evidence of interaction between the polymorphisms in the aldosterone synthase gene (CYP11B2) and aldosterone levels in plasma and urine. However, the most consistent associations between variation at this locus and altered steroid synth...

Aldosterone is a key cardiovascular hormone in the development of hypertension and in the evolution of heart failure. Recent studies have suggested that Primary Aldosteronism may be present around 10% of patients with high blood pressure, although the precise definition of the syndrome remains uncertain. Nevertheless, it is clear that dysregulation of aldosterone production is a common clinical phenotype in cardiovascular disease. The majority of patients with aldosterone exce...

Primary Aldosteronism (PA), as defined by the autonomous and inappropriate secretion of aldosterone, causes mineralocorticoid hypertension. Key features of this include suppression of plasma renin and hypokalaemia. Recent studies that have used the ratio of aldosterone to renin (ARR) as a screening test have suggested that the prevalence of PA in unselected populations of patients with hypertension is around 10%. Only a minority of these patients, however, have a low potassium...

Insulin resistance is associated with a variety of cardiovascular disorders, including hypertension, non-insulin dependent diabetes mellitus, coronary artery disease and polycystic ovary syndrome. The mechanism of reduced insulin-stimulated glucose uptake in these conditions is unclear, but is likely to involve defects in cellular components of insulin signalling. All of the disorders above are characterised by abnormal vascular endothelial function, with reduced availability...

John S Bevan, Department of Endocrinology, Aberdeen Royal Infirmary, Foresterhill, Aberdeen AB25 2ZN, UK. AbstractJohn S Bevan is senior Consultant Endocrinologist at Aberdeen Royal Infirmary and Honorary Professor of Endocrinology at Aberdeen University. He qualified MB ChB, with Honours, from Edinburgh University in 1978 and his clinical training in Medicine & Endocrinology took place in Edinburgh, Oxford and Ca...

Hypertension is a common risk factor for cardiovascular disease and up to 15% of hypertensive patients are now known to have primary aldosteronism (PA), where the adrenal glands secrete inappropriately high levels of the steroid hormone aldosterone. Of these cases, almost half are due to the presence of unilateral aldosterone-producing adenoma (APA). Aldosterone is synthesised in the zona glomerulosa of the adrenal cortex, with the final stages of production catalysed by aldos...

Phaeochromocytomas (PHAEO)/paragangliomas (PGL) are neuro-endocrine tumours. They may present sporadically or as the primary abnormality in a number of familial syndromes. Advances in molecular genetics have led to the identification of several PHAEO/PGL predisposing genes including VHL, NF1 and RET. Mutations in the genes encoding the subunits of Succinate Dehydrogenase (SDH) have also been reported. We describe the phenotype of a cohort of patients with a Succinate Dehydroge...

Aldosterone is a key cardiovascular hormone: 15% of hypertensives have altered aldosterone regulation, defined by a raised ratio of aldosterone to renin. However, the causes of aldosterone excess are not understood. Polymorphic variation in the gene encoding aldosterone synthase (CYP11B2) is associated with hypertension, but the most robust phenotype is a relative reduction in efficiency of 11ß-hydroxylation (conversion of deoxycortisol to cortisol), which reflects functi...

The locus comprising the genes that catalyse the final steps of cortisol and aldosterone synthesis (CYP11B1 and CYP11B2 respectively) is a plausible candidate risk region for hypertension and other cardiovascular diseases. Nevertheless, there remains uncertainty as to the strength of the relationship between polymorphisms at this locus and increased blood pressure. In this study, association with hypertension at the CYP11B1/CYP11B2 locus in a Caucasian cas...

We report the case of a 37-year-old woman with a 9-month history of intermittent and variable symptoms of anorexia, nausea & vomiting, muscular weakness and pain in association with recurrent hypoglycaemic episodes. The patient stated that she had episodes of myalgia with generalised weakness affecting mobility and a history of significant weight loss as a result of anorexia and nausea & vomiting. The patient had two previous hospital admissions with similar symptoms a...