Searchable abstracts of presentations at key conferences in endocrinology

ea0041oc11.4 | Bone & Calcium Homeostasis | ECE2016

The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network

Marta Elli Francesca , Linglart Agnes , Garin Intza , de Sanctis Luisa , Bordogna Paolo , Grybek Virginie , Pereda Arrate , Giachero Federica , Verrua Elisa , Mantovani Giovanna , Perez de Nanclares Guiomar

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 AlbrightÂ’s hereditary osteodystrophy (AHO), led to the distinction of specific PHP subtypes.The purpose of the present work is to prov...