Endocrine Abstracts

Background: FHH is a genetically heterogeneous condition mimicking primary hyperparathyroidism at the difference of low urine calcium excretion. FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively. FFH 3, the rarest of the 3, is usually associated to 3 recurrent mutations affecting the arginine residue in position 15. The clinical phenotype has not been well described. We report a new case striking by the neurological in...

Background: Osilodrostat is a potent oral inhibitor of the adrenal enzymes aldosterone synthase and 11b-hydroxylase and decreases glucocorticoid and mineralocorticoid production and secretion. Phase 2 and 3 studies from the osilodrostat clinical trial programme have demonstrated the drug’s efficacy and safety in patients with Cushing’s disease. Osilodrostat received European Marketing Authorization (MA) for the treatment of Cushing’s syndrome (CS) in adults....

Objective: Carney Complex (CNC) is a rare hereditary genetic syndrome, mostly due to inactivating pathogenic variants of the tumor suppressor gene PRKAR1A. It has a wide spectrum of manifestations with frequent pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, acromegaly and thyroid cancers. Breast benign tumors (fibroadenomas, ductal adenomas and myxoid lesions) have been associated with CNC, but so far, association with mal...