hrp0086fc2.2 | Bone & Mineral Metabolism | ESPE2016
Thiele Susanne
, Mantovani Giovanna
, Barlier Anne
, Bordogna Paola
, Elli Francesca M
, Freson Kathleen
, Garin Intza
, Grybek Virginie
, Hanna Patrick
, Izzi Benedetta
, Hiort Olaf
, Lecumberri Beatriz
, Pereda Arrate
, de Sanctis Luisa
, Silve Caroline
, Turan Serap
, Usardi Alessia
, Saraff Vrinda
, de Nanclares Guiomar Perez
, Linglart Agnes
Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs	...