Endocrine Abstracts

Primary Aldosteronism (PA), due to a unilateral aldosterone-producing adenoma of the adrenal (APA), is the commonest curable cause of Hypertension, but the prospects for cure fall with age. APAs rarely increase in size, suggesting an origin much earlier than the development of resistant hypertension. Most APAs have gain-of-function somatic mutations which result in increased Ca2+ entry, and constitutive activation of aldosterone production. Women with larger APAs, a...

The advent of new genetic techniques that allow for high-throughput sequencing in surgical tumour tissues and germline DNA has boosted progress in many fields of biomedical research. The technique has been proven to be particularly fruitful in the area of endocrine tumours with many new driver genes being identified over the last few years that are involved in cell growth but more importantly in hormonal autonomy. Examples account for aldosterone producing adrenal adenomas, in...

Paragangliomas and pheochromocytomas (PPGL) are neuroendocrine tumors with a very strong genetic component. A germline mutation in one of the 13 different susceptibility genes identified so far explains about 40% of all cases. Genetic testing, which is indicated in every patient, can be guided by the clinical presentation as well as by the secretory phenotype and by the immunohistochemical analysis of the tumors. The diagnosis of an inherited form drives clinical management an...