hrp0097rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Documentation of inactivating PTH/PTHrP Signaling Disorders (Pseudohypoparathyroidism) cases in EuRRECa / EuRR-Bone: a challenging, but worthwhile journey

Ertl Diana-Alexandra , Mantovani Giovanna , Perez de Nanclares Guiomar , Cherenko Mariya , M. de Rooij Tess , L Priego Zurita Ana , M Appelman- Dijkstra Natasha , S Ahmed Faisal , Bryce Jillian , Linglart Agnès

Background: A new classification of pseudohypoparathyroidism is available (Thiele et al. 2016, J Endocrinol). The phenotype variability of inactivating PTH/PTHrP Signaling Disorders (iPPSD, former pseudohypoparathyroidism) cases is still very challenging, even for experts. Thus, it is crucial to collect data in a centralized manner for future investigation.Methods: The EuRRECa/EuRR-Bone registries are the first ...