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ea0041ep135 | Calcium and Vitamin D metabolism | ECE2016

From pseudohypoparathyroidism to inactivating PTH/PTHrP signaling disorder (iPPSD), a novel classification proposed by the European EuroPHP-network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Boldrin Valentina , Bordogna Paolo , Elli Francesca , Freson Kathleen , Garin Intza , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , De Sanctis Luisa , Saraff Vrinda , Turan Serap , Usardi Alessia , Werner Ralf , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders caused by impairments in the parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that 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 the results of an in vitro as...

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From pseudohypoparathyroidism to inactivating PTH/PTHrP signaling disorder (iPPSD), a novel classification proposed by the European EuroPHP-network

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