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      Clinical and Genetic Aspects of Phaeochromocytoma

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          Phaeochromocytoma is a tumour of the adrenal medulla, which, although rare, is a major cause of correctable hypertension with a prevalence of 0.1–0.5% in the hypertensive population. Clinical symptoms include attacks of paroxysmal headache, sweating, palpitations, stress and a sense of imminent death. Often associated with the above is an increase in blood pressure. Despite the fact that the underlying genetic mechanisms of phaeochromocytoma have been well investigated, they are still incompletely understood. In approximately 80% of cases the tumour occurs sporadically, but it may occur in association with type 2 multiple endocrine neoplasia, type 1 neurofibromatosis or von Hippel-Lindau disease. Molecular evidence suggests that other genes such as SDHD or SDHB may control its development; the possibility of other putative phaeochromocytoma genes is currently being investigated.

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          Germline SDHD mutation in familial phaeochromocytoma.

          The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and neck paraganglioma, which is caused by a mutation in the gene encoding succinate dehydrogenase complex subunit D (SDHD), we investigated this gene in kindreds with familial phaeochromocytoma. A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not detected in 24 sporadic phaeochromocytoma tumours. Germline SDHD mutation analysis should be done in individuals with familial, multiple, or early-onset phaeochromocytomas even if a personal or family history of head and neck paraganglioma is absent.

            Author and article information

            Horm Res Paediatr
            Hormone Research in Paediatrics
            S. Karger AG
            January 2003
            17 November 2004
            : 59
            : Suppl 1
            : 56-61
            Endocrinology, Department of Medical and Surgical Sciences, University of Padova, Padova, Italy
            67846 Horm Res 2003;59(suppl 1):56–61
            © 2003 S. Karger AG, Basel

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            Page count
            Figures: 1, Tables: 1, References: 24, Pages: 6
            Endocrine Hypertension


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