Multiple paraganglioma in a female patient: review of genetic features

We report the case of a female patient who presented with symptoms of catecholamine excess. Urinary catecholamines were elevated. Radiologic tests were compatible with paraganglioma. High parathyroid hormone and gastrin values were also detected, which excluded multiple endocrine neoplasia type 1 and 2. Finally, the patient was diagnosed with multiple paraganglioma. This entity is associated with mutations in the SDHB-C-D genes. An SDHD mutation was found in our patient. The genetic bases, mutations, genotypephenotype associations, and tumorigenesis of SDH are currently being studied. The present article provides a review of the most recent data.