Endocrine Abstracts

Introduction: Endogenous subclinical hypercortisolism occurs in 5-30% of patients with adrenal incidentalomas. Adrenal adenoma is the commonest cause of autonomous cortisol secretion (ACS), while primary bilateral macronodular adrenal hyperplasia (PBMAH) is rare. In both, ACS results from activation of the cAMP/PKA pathway. This may be triggered by ligands, other than ACTH, acting upon aberrant G-protein coupled receptors (GPCRs), which may also control locally produced ACTH i...

Introduction: IgG4-related thyroiditis (IgG4-RTD) is a rare fibroinflammatory disorder. It is characterized by dense lymphocyte infiltration (mainly IgG4+ plasma cells), enlargement and dysfunction of the thyroid gland. IgG4-RTD includes mostly cases of Hashimoto’s (HT) but also of Riedel’s and Graves’ thyroiditis. Diagnosis is set according to imaging and histopathological criteria. Papillary thyroid carcinoma (PTC) is the most common form of thyroid cancer (~9...

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 ...