Endocrine Abstracts

Pheochromocytoma is a rare neuroendocrine tumor; many cases are sporadic but 1/3 are familial or syndromic and associated with many susceptibility genes including germline mutations of the gene encoding succinate dehydrogenase (SDH) subunits. We describe the case of a 70-years-old woman with arterial hypertension poorly controlled by therapy in a patient with secondary progressive multiple sclerosis started at 25 years of age, associated with euthyroid autoimmune thyroiditis, ...

Hereditable forms account for 30–40% of pheochromocytomas (pheo). The role of germ-line mutation of VHL, RET, SDHB, SDHD gene has been largely elucidated. However, genotyping a group of 172 sporadic or familial pheo, we have characterize five unrelated probands with familial pheo without any sequence variants of RET (7 exons), or of the entire coding sequence of VHL, SDHB, SDHC or SDHD.The proband #1 had a bilateral pheo when 32 and a local recurren...

Head and neck paragangliomas (HNPs) are tumors derived from the neuroectoderm. HNPs are generally hormonally silent and often asymptomatic. They can be part of the Pheochromocytoma/ Paraganglioma Syndrome, due to mutations of SDHB, SDHC and SDHD genes. SDHD founder effects have been described in the Netherland, USA, Italy and Spain.We identified a new founder effect in a small geographic area (Valsugana-Trentino, actually 50.000 inhabitants), with high a...