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

Author:

Thiele Susanne1,Mantovani Giovanna2,Barlier Anne3,Boldrin Valentina2,Bordogna Paolo2,De Sanctis Luisa4,Elli Francesca M2,Freson Kathleen5,Garin Intza6,Grybek Virginie78,Hanna Patrick78,Izzi Benedetta5,Hiort Olaf1,Lecumberri Beatriz9,Pereda Arrate610,Saraff Vrinda11,Silve Caroline7812,Turan Serap13,Usardi Alessia714,Werner Ralf1,de Nanclares Guiomar Perez6,Linglart Agnès7814

Affiliation:

1. 1Division of Experimental Pediatric Endocrinology and DiabetesDepartment of Pediatrics, University of Lübeck, Lübeck, Germany

2. 2Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoEndocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

3. 3APHMHôpital la Conception, Laboratory of Molecular Biology, Marseille, France

4. 4Department of Public Health and Pediatric SciencesUniversity of Torino, Torino, Italy

5. 5Department of Cardiovascular SciencesCenter for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium

6. 6Molecular (Epi)Genetics LaboratoryBioAraba National Health Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Spain

7. 7APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d’Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France

8. 8INSERM U1169Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, Le Kremlin Bicêtre, France

9. 9Department of Endocrinology and NutritionLa Paz University Hospital, Madrid, Spain

10. 10Department of Biochemistry and Molecular BiologyUniversity of Basque Country, Leioa, Spain

11. 11Department of Endocrinology and DiabetesBirmingham Children’s Hospital, Birmingham, UK

12. 12APHPService de Biochimie et Génétique Moléculaires, Hôpital Cochin, Paris, France

13. 13Department of PediatricsDivision of Endocrinology and Diabetes, Marmara University, Istanbul, Turkey

14. 14APHPDepartment of Paediatric Endocrinology and Diabetology, Bicêtre Paris Sud hospital, Le Kremlin Bicêtre, France

Abstract

Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and 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 Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, 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 organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway. Results and conclusions After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term ‘inactivating PTH/PTHrP signalling disorder’ (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like ‘pseudo’ and (iv) 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.

Publisher

Bioscientifica

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

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