International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers

Abstract excerpt

Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal and Paraganglionic Tumors
• Share to Hormonal Regulation and Hypertension
• Share to Pituitary Gland Disorders and Treatments