ea0041oc11.4 | Bone & Calcium Homeostasis | ECE2016
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...