Endocrine Abstracts

Introduction: Von Hippel-Lindau (VHL) is an autosomal dominant disease associated with increased risk for developing hemangioblastomas of the central nervous system and retina, renal cell carcinoma (RCC), pancreatic neuroendocrine tumors (PNET), adrenal pheochromocytomas and paraganglioma (PPGL). Loss of function VHL alterations lead to pseudohypoxia and, consequently, to angiogenesis and metabolic derangements (e.g., increased glucose uptake). Little is known about t...

Background: von Hipple-Lindau (VHL) disease comprises hemangioblastomas, renal cell carcinomas (RCC), pheochromocytomas, and pancreatic neuroendocrine tumors (PNET). Diagnosis is based International (two hemangioblastomas, one hemangioblastoma and one visceral lesion, or VHL family history and hemangioblastoma or visceral lesion) or Danish criteria (any two clinical manifestations, one clinical manifestation and family background of VHL or self-genetic diagnosis). The nature o...

Patients with germline pathogenic variant (PV) in the SDHB gene (Paraganglioma syndrome type 4, PPGL4) have a high-risk of developing paragangliomas and pheochromocytomas. PPGL4 has increased risk for aggressive and metastatic abdominal-thoracic paragangliomas compared with other paraganglioma syndromes.Aims: To assess possible germline DNA epigenetic alterations in patients harboring the SDHB PV.Materials and Met...

Background: Extreme hypercalcemia is an endocrine emergency. Given parathyroid hormone (PTH)-dependent cause, carcinoma should be suspected as a possible etiology. The prevalence of parathyroid carcinoma among patients presenting with extreme hypercalcemia is not well elucidated.Aim: Establish proportion of patients with parathyroid carcinoma among those presenting with severe hypercalcemia and compare clinical and laboratory features between benign and ...