ECE2018 Guided Posters Parathyroid (12 abstracts)
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement
Giovanna Mantovani 1 , Beatriz Lecumberri 2 , Murat Bastepe 3 , David Monk 4 , Luisa de Sanctis 5 , Susanne Thiele 6 , Alessia Usardi 7 , Faisal Ahmed 8 , Roberto Bufo 9 , Timothée Choplin 10 , Gianpaolo DeFilippo 11 , Guillemette Devernois 10 , Thomas Eggermann 12 , Francesca Elli 1 , Kathleen Freson 13 , Aurora Garcia Ramirez 14 , Emily Germain-Lee 15 , Lionel Groussin 16 , Neveen Hamdy 17 , Patrick Hanna 18 , Olaf Hiort 6 , Harald Jüppner 3 , Peter Kamenický 19 , Nina Knight 20 , Marie-Laure Kottler 21 , Elvire Le Norcy 22 , Michael A Levine 23 , Outi Mäkitie 24 , Regina Martin 25 , Gabriel Ángel Martos-Moreno 26 , Masanori Minagawa 27 , Philip Murray 28 , Arrate Pereda 29 , Robert Pignolo 30 , Lars Rejnmark 31 , Rebecca Rodado 14 , Anya Rothenbuhler 7 , Vrinda Saraff 32 , Ashley Shoemaker 33 , Eileen M Shore 34 , Caroline Silve 35 , Serap Turan 36 , Philip Woods 20 , M Carola Zillikens 37 , Guiomar Perez de Nanclares 29 & Agnès Linglart 7,
1Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milano, Italy; 2Department of Endocrinology and Nutrition, La Paz University Hospital, Madrid, Spain; 3Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA; 4Imprinting and Cancer group, Cancer Epigenetic and Biology Program (PEBC), Institut d’Investigació Biomedica de Bellvitge (IDIBELL), Barcelona, Spain; 5Pediatric Endocrinology Unit, Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy; 6Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lubeck, Germany; 7APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, APHP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, 94270 Le Kremlin-Bicêtre, Paris, France; 8Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing Studies, University of Glasgow, Glasgow, UK; 9IPOHA, Italian Progressive Osseous Heteroplasia Association, Cerignola, Foggia, Italy; 10K20, French PHP and related disorders patient association, Jouars Pontchartrain, Paris, France; 11APHP, Department of Medicine for Adolescents, Bicêtre Paris Sud Hospital, 94270 Le Kremlin-Bicêtre, Paris, France; 12Insitute of Human Genetics, Technical University of Aachen, Pauwelsstrasse 30, D-52074 Aachen, Germany; 13Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, Gasthuisberg, University of Leuven, Leuven, Belgium; 14AEPHP, Spanish PHP and related disorders patient association, Huércal-Overa, Almería, Spain; 15Albright Center and Center for Rare Bone Disorders, Division of Pediatric Endocrinology and Diabetes, Connecticut Children’s Medical Center and Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA; 16APHP, Department of Endocrinology, Cochin Hospital, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; 17Department of Medicine, Division of Endocrinology and Centre for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands; 18INSERM U1169, Bicêtre Paris Sud, Université Paris Sud Paris Saclay, Le Kremlin-Bicêtre, Paris, France; 19APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris Sud Hospital, INSERM U1185, Bicêtre Paris Sud, Université Paris Sud Paris Saclay, Le Kremlin-Bicêtre, Paris, France; 20UK Acrodysostosis Patients’ Group, London, UK; 21Department of Genetics, Caen University Hospital, Caen, France; 22APHP, Department of Odontology, Bretonneau Hospital PNVS, Paris, Faculty of Dentistry, Paris Descartes University, Montrouge, France; 23Department of Pediatrics, Division of Endocrinology and Diabetes and Center for Bone Health, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA; 24University of Helsinki and Helsinki University Hospital, Children’s Hospital, Helsinki, Finland; 25Laboratório de Metabolismo e Endocrinologia do Departamento de Fisiologia e Biofísica do Instituto de Ciências Biomédicas da Universidade de São Paulo (ICB-USP), São Paulo, Brazil; 26Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Department of Pediatrics, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain; 27Division of Endocrinology, Chiba Children’s Hospital, Chiba, Japan; 28Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester, UK; 29Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Alava, Spain; 30Department of Medicine, Mayo Clinic, Rochester, New York, USA; 31Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark; 32Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, UK; 33Pediatric Endocrinology and Diabetes, Vanderbilt University Medical Center, Nashville, USA; 34Departments of Orthopaedic Surgery and Genetics, Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 35APHP, service de biochimie et génétique moléculaires, Hôpital Cochin, Paris, France; 36Department of Pediatrics, Division of Endocrinology and Diabetes, Marmara University, Istanbul, Turkey; 37Department of Internal Medicine, Bone Center Erasmus MC – University Medical Center Rotterdam, Rotterdam, The Netherlands.
Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities that share a common PTH/PTHrP signaling pathway. The clinical and molecular overlap of PHP and related disorders lead to difficulties in clinical and molecular diagnosis which prompt to the possibility of incorrect management of these patients. 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, a stocky build, subcutaneous ectopic ossifications (features associated to Albright Hereditary Osteodystrophy, AHO), as well as laboratory abnormalities such as hypocalcemia, hyperphosphatemia, and elevated PTH and TSH levels. Other features have been attributed to these disorders, such as intra uterine growth failure, early-onset obesity, hypogonadism, hypothyroidism, elevated calcitonin levels, growth hormone deficiency and neurocognitive deficiency. The main subtypes of PHP and related disorders are caused by de novo or autosomal dominantly inherited inactivating genetic mutations, and/or epigenetic, sporadic or genetic-based alterations within or upstream of GNAS, PRKAR1A, and PDE4D and PDE3A. Over the past 30 years, incredible progress has been made on the pathophysiology of these disorders throughout the world by physicians and research networks. However, caregivers and patients are lacking guidelines for the daily life management of patients. Our aim was to help them from the clinical diagnosis, to the molecular confirmation of the genetic or the epigenetic defect, up to the management of the most frequent manifestations of these rare diseases. Therefore, a consensus statement was prepared for 2 years to produce recommendations for clinical and molecular diagnosis and management of patients with PHP and related disorders. The approach comprised 2 pre-consensus meetings, an expert consensus meeting, and a Delphi-like methodology, adjusted to rare diseases. This consensus meeting was supported by several patients’ associations and scientific societies, including the ESE. After a comprehensive literature search using PubMed, >800 papers published since 1 January 1990 to 18 December 2016 have been reviewed and recommendations on clinical and diagnosis and management on PHP and related disorders have been voted and approved with different levels of evidence: 14 recommendations on clinical diagnosis, 11 on molecular diagnosis and 39 on management and treatment.
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Endocrine Abstracts
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