Endocrine Abstracts

Recent advances in determining the molecular basis for phaeochromocytoma susceptibility have suggested a much larger inherited contribution to the pathogenesisof phaeochromocytoma than had been generally recognized. The identification of individuals with phaeochromocytoma susceptibility disorders (e.g. von Hippel-Lindau disease, succinate dehydrogenase subunit mutations, multiple endocrine neoplasia type 2 and neurofibromatosis type 1) is important because of the opportunity t...

Phaeochromocytoma and functional paraganglioma are rare in young people. Presentation, diagnosis and management follow principles established in adult endocrinology: clinical suspicion, appropriate investigation, adrenergic blockade and surgical excision where possible. Familial phaeochromocytoma syndromes are over-represented in patients presenting with the problem at a young age. This is an important dimension to the multidisciplinary approach to management, a multi-discipli...

Phaeochromocytomas (PCC) are rare tumours of chromaffin cells that are generally characterised by autonomous production of catecholamines. PCC vary considerably in the relative and total amounts of catecholamines produced and stored, in the overall rates of synthesis and in individual-to-individual differences in sensitivities to catecholamines. It is these differences that contribute to the diversity of signs and symptoms. Thus diagnosis depends on a high index of clinical su...

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