ABSTRACT Mahvash disease is a rare autosomal recessive condition caused by biallelic inactivating variants in the GCGR gene, impairing glucagon signaling and leading to alpha-cell hyperplasia and pancreatic neuroendocrine tumors (PNETs). Fewer than 20 cases have been reported, and the clinical impact of heterozygous variants remains unclear. Case Presentation: We report a family with a novel GCGR splice-site variant (c.1176+1_1176+7delGTGCCCG). The index case, a 61-year-old woman, presented with extensive pancreatic cystic disease and was found to be homozygous for the […]

ABSTRACT Objective The aim was to describe the clinical features of patients with ectopic Cushing syndrome (ECS) from Colombia and compare these findings with other series to provide the best management for these patients. Materials and methods Records of patients with ECS from 1986 to 2017 were retrospectively reviewed; patients with a diagnosis of adrenal or pituitary Cushing syndrome (CS) were excluded. Results Fourteen patients with ECS were analyzed in this study. The mean age was 54.4 (SD 17.1) years, […]