Endocrine Abstracts

Background: Since signs and symptoms of pheochromocytomas are unspecific, diagnosis is crucially dependent on biochemical evidence of excessive catecholamine production. Diagnostic workup was previously based on measurement of urinary catecholamines. Subsequently it was shown that pheochromocytomas contain high amounts of catechol-O-methyltransferase (COMT), the enzyme that converts epinephrine to metanephrine and norepinephrine to normetanephrine. This metabolism occur...

Hereditary pheochromocytoma/paraganglioma (PHEO/PGL) syndrome is a rare disease. It has been demonstrated that about 25% of the apparently sporadic PHEO/PGL are due to a germ line mutation in one of the susceptibility genes, such as, VHL, RET, NF1, TMEM127, MAX and the genes encoding the four subunits of the mitochondrial enzyme succinate dehydrogenase (SDH) as well as the gene encoding one SDH assembly factor, SDHAF2. SDH is located in the inner mitochondrial membrane and is ...

Effective treatments of malignant pheochromocytoma have not been established. Although 131-I-MIBG radiotherapy, chemotherapy with a combination of cyclophosphamide, vincristine and dacarbazine (CVD), and molecular target therapies have been used for unresectable tumors, those are usually palliative and rarely curative. However, excessive catecholamine impairs the activities of daily living by causing various symptoms (e.g. palpitation, paroxysmal hypertension and hypotension a...