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hrp0086fc2.2 | Bone & Mineral Metabolism | ESPE2016

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

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&#9...

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hrp0089rfc11.1 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement

Mantovani Giovanna , Bastepe Murat , Monk David , de Sanctis Luisa , Thiele Susanne , Usardi Alessia , Ahmed Faisal , Bufo Roberto , Choplin Timothee , DeFillipo Gianpaolo , Devernois Guillemette , Eggermann Thomas , Elli Francesca M , Freson Kathleen , Ramirez Aurora Garcia , Germain-Lee Emily , Groussin Lionel , Hamdy Neveen , Hanna Patrick , Hiort Olaf , Juppner Harald , Kamenicky Peter , Knight Nina , Kottler Marie-Laure , Le Norcy Elvire , Lecumberri Beatriz , Levine Michael A , Makiti Outi , Martin Regina , Martos-Moreno Gabriel Angel , Minagawa Masanori , Muray Philip , Pereda Arrate , Pignolo Roberto , Rejnmark Lars , Rodado Rebecca , Rothenbuhler Anya , Saraff Vrinda , Shoemaker Ashley , Shore Eileen M. , Silve Caroline , Turan Serap , Woods Philip , Zillikens M. Carola , de Nanclares Guiomar Perez , Linglart Agnes

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

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ESPE Abstracts

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement

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