Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Nature Reviews Endocrinology Année : 2018

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

1 UNIMI - Università degli Studi di Milano = University of Milan
2 HMS - Harvard Medical School [Boston]
3 IDIBELL - Institut d'Investigació Biomèdica de Bellvitge = Bellvitge Biomedical Research Institute
4 UNITO - Università degli studi di Torino = University of Turin
5 Lübeck University of Applied Sciences
6 CIRB - Centre interdisciplinaire de recherche en biologie
7 University of Glasgow
8 IPOHA - Italian Progressive Osseous Heteroplasia Association
9 Service d'endocrinologie pédiatrique [CHU Bicêtre]
10 AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP)
11 RWTH - Rheinisch-Westfälische Technische Hochschule Aachen University
12 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
13 Connecticut Children's Medical Center
14 UCONN - University of Connecticut
15 AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris]
16 UPD5 - Université Paris Descartes - Paris 5
17 LUMC - Leiden University Medical Center
18 U 1169 - Thérapie génique, Génomique et Epigénomique
19 Endocrine Unit
20 Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique
21 BIOTARGEN - Biologie, génétique et thérapies ostéoarticulaires et respiratoires
22 Service de Génétique [CHU Caen]
23 EA 2496 - Pathologies, Imagerie et Biothérapies oro-faciales
24 Hospital Universitario La Paz
25 Department of Statistics [West Lafayette]
26 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
27 USP - Universidade de São Paulo = University of São Paulo
28 Chiba University Hospital
29 MFT - Manchester University NHS Foundation Trust
30 Bioaraba Health Research Institute
31 Mayo Clinic [Rochester]
32 Aarhus University Hospital
33 Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
34 Birmingham Children’s Hospital
35 Vanderbilt University Medical Center [Nashville]
36 University of Pennsylvania
37 CRB3 - Centre de recherche biomédicale Bichat-Beaujon
38 Marmara University [Kadıköy - İstanbul]
39 Erasmus MC - Erasmus University Medical Center [Rotterdam]
40 U986 - Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique
Murat Bastepe
  • Fonction : Auteur
  • PersonId : 911985
Timothée Choplin
  • Fonction : Auteur
Guillemette Devernois
  • Fonction : Auteur
Aurora García Ramirez
  • Fonction : Auteur
Olaf Hiort
  • Fonction : Auteur
  • PersonId : 911986
Harald Jüppner
  • Fonction : Auteur
Nina Knight
  • Fonction : Auteur
Beatriz Lecumberri
  • Fonction : Auteur
  • PersonId : 899484
Michael Levine
  • Fonction : Auteur
  • PersonId : 879009
Rebecca Rodado
  • Fonction : Auteur
Philip Woods
  • Fonction : Auteur

Résumé

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

Dates et versions

hal-02392788 , version 1 (04-12-2019)

Identifiants

Citer

Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, et al.. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nature Reviews Endocrinology, 2018, 14 (8), pp.476-500. ⟨10.1038/s41574-018-0042-0⟩. ⟨hal-02392788⟩
70 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More