Endocrine Abstracts

Introduction: Most of pituitary adenomas are sporadic, with only 5% of them attributed to genetic mutations and syndromes such as Multiple Endocrine Neoplasia type 1 (MEN-1). However, how easy is it for a doctor to suspect it when there is no known family history?Case Presentation: A 36-year-old patient with no personal or family history presented to our Endocrine Department reporting intermittent episodes of unconsciousness during the last 48 hours. The...

Introduction: Armadillo-containing repeat protein 5 gene (ARMC5) is a tumor suppressor gene expressed in different human tissues. Inactivating germline and somatic mutations of the gene are involved in the pathogenesis of primary bilateral macronodular adrenocortical hyperplasia (PBMAH). These mutations are mainly met in the familial form of PBMAH and are associated with a more severe Cushing Syndrome, meningiomas and T-cell immune response defects. However, the role of ARMC5 ...

Introduction: Sporadic primary hyperparathyroidism (sporadic PHPT) is a common endocrine disorder, usually caused by a single parathyroid adenoma. However, up to 15% of patients present with multiple gland disease (MGD), which cannot be always diagnosed preoperatively, raising serious management problems. No predictive genetic screening tests are currently available to distinguishing adenomas from MGD in sporadic PHPT. MiRNAs are widely established as genetic molecules that ha...

BackgroundPheochromocytomas (PHOEs) and paragangliomas (PGLs) are rare neuroendocrine tumors originating from chromaffin cells. PHEO/PGL incidence ranges between 2–8/million, with 10–49% of these tumors being detected incidentally during imaging performed for other reasons. Up to 40% of PHEOs/PGLs patients have disease-specific germline pathogenic variants. This study aimed to investigate the epidemiology, clinical course, and genetic backgroun...