oa Journal of Endocrinology, Metabolism and Diabetes in South Africa - Unusual phaeochromocytomas in African families : the importance of genetic testing : case studies



Phaeochromocytomas are catecholamine-secreting tumours that arise from chromaffin tissue. The majority of tumours arise within the adrenal gland and are benign; extra-adrenal phaeochromocytomas are also referred to as paragangliomas. Approximately 76% of phaeochromocytomas occur sporadically; the remaining 24% are familial, and therefore genetic conditions, including multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1), Von Hippel-Lindau (VHL) syndrome and hereditary paragangliomaphaeochromocytoma syndrome should be considered as part of the differential diagnosis. In this article, we report on two black families with unusual phaeochromocytomas, diagnosed with VHL syndrome.


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