Endocrine Abstracts

Introduction: Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by renal resistance to parathyroid hormone (PTH), presenting with hypocalcemia, hyperphosphatemia and elevated PTH levels. We describe a PHP patient who presented with clinically significant hypercalcemia.Case description: A 46-year-old woman with a prior history of hypocalcemia presented to the emergency department with new-onset hypercalcemia, renal failure and anemia....

The impairment of the parathyroid hormone (PTH) signaling pathway determines a group of related and highly heterogeneous disorders associated or not with the Albright’s hereditary osteodystrophy (AHO) phenotype, classified as inactivating PTH/PTHrP signaling disorder (iPPSD). iPPSD features are rather difficult to be identified in some casesbecause manifestations are somewhat variable and some AHO characteristics are not specific to a specific disorder. Actually, besides...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome (CS). Some familial forms have been associated to gene ARMC5 (Armadillo repeat-containing protein 5) inactivating mutations. This study aimed to evaluate the prevalence and the complications of ARMC5 mutations in our cohort of patients with bilateral adrenal incidentalomas (BAI).Methods: 72 patients, referred to our Center...

The clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by (epi)genetic alterations of GNAS, was termed as Pseudohypoparathyroidism (PHP). The high phenotype heterogeneity, the existence of additional clinical features such as resistance to other hormones (TSH/GHRH/gonadotropins) and Albright’s hereditary osteodystrophy (AHO), led to the distinction of specific PHP subtypes.The purpose of the present work is to prov...