Endocrine Abstracts

The mutations of succinate dehydrogenase subunits (SDHA, SDHB, SDHC, SDHD) are linked with a predisposition to develop pheochromocytoma and paraganglioma, often in diferent locations of the body. With greater acces to genetic tests, current estimations suggest that 40-50% of pheocromocytoma and paraganglioma cases are inherited and half of them are due to SDH mutations. These mutations can be associated with other tumours like renal carcinomas, gastrointestinal stroma tumours ...

Introduction: Paraganglioma type 4 is the second most common hereditary paraganglioma syndrome. It is due to a mutation in the succinate dehydrogenase B (SDHB) gene. Associated with high morbimortality for presenting high penetrance (77%) and debut at an early age with a high probability of malignancy (31–71%). In terms of follow-up, annual biochemical monitoring is recommended for mutation carriers. However, the affected gene should be taken into account, for example: t...