ECE2016 Eposter Presentations Calcium and Vitamin D metabolism (61 abstracts)
From pseudohypoparathyroidism to inactivating PTH/PTHrP signaling disorder (iPPSD), a novel classification proposed by the European EuroPHP-network
Susanne Thiele 1 , Giovanna Mantovani 2 , Anne Barlier 3 , Valentina Boldrin 2 , Paolo Bordogna 2 , Francesca Elli 2 , Kathleen Freson 4 , Intza Garin 5 , Patrick Hanna 6, , Benedetta Izzi 4 , Olaf Hiort 1 , Beatriz Lecumberri 8 , Arrate Pereda 5 , Luisa De Sanctis 9 , Vrinda Saraff 10 , Serap Turan 11 , Alessia Usardi 6 , Ralf Werner 1 , Guiomar Perez de Nanclares 5 & Agnès Linglart 6,
1Division of Experimental Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, Germany; 2Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy; 3APHM, Hôpital la Conception, Laboratory of Molecular Biology, Marseille, France; 4Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium; 5Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain; 6APHP, Reference Center for Rare Disorders of the Mineral Metabolism, Filière OSCAR and Plateforme d’Expertise Maladies Rares Paris-Sud, Le Kremlin Bicêtre, France; 7INSERM U1169, Hôpital Bicêtre et Université Paris-Saclay, Le Kremlin Bicêtre, France; 8Department of Endocrinology and Nutrition, La Paz University Hospital, Castellana 261, Madrid, Spain; 9Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy; 10Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, UK; 11Department of Pediatrics, Division of Endocrinology and Diabetes, Marmara University, Instanbul, Turkey.
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 assay to measure Gsα protein activity. However, this classification does not take into consideration other related diseases like acrodysostosis (ACRDYS) or Progressive Osseous Heteroplasia (POH), as well as recent findings of clinics and genetic/epigenetic background of the different subtypes.
Objective: The EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway.
Design and Methods: Extensive review of the literature was performed. Several meetings were organized to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH signaling pathway.
Results and Conclusions: After choosing major and minor criteria that need to be considered for the diagnosis of these disorders, we propose to group them under the term of ‘inactivating PTH/PTHrP signaling disorders’, (iPPSD). This terminology: 1) defines the common mechanism responsible for all diseases, 2) does not require a confirmed genetic defect, 3) avoids ambiguous terms like “pseudo”, 4) eliminates the clinical or molecular overlap between diseases. We believe that the use of this nomenclature and classification will facilitate the development of rationale and comprehensive international guidelines for the diagnosis and treatment of iPPSDs.
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Endocrine Abstracts
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