Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep176 | Bone and Calcium | ECE2020

NGS sequencing proves as a powerful method to perform differential diagnosis in patients with inactivating PTH/PTHrP signaling disorders (iPPSD)

Marta Elli Francesca , Antonia Maffini Maria , Costanza Jole , Fontana Laura , Arosio Maura , Mantovani Giovanna

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...