Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
Giovanna Mantovani
(1)
,
Murat Bastepe
(2)
,
David Monk
(3)
,
Luisa de Sanctis
(4)
,
Susanne Thiele
(5)
,
Alessia Usardi
(6)
,
S Faisal Ahmed
(7)
,
Roberto Bufo
(8)
,
Timothée Choplin
,
Gianpaolo de Filippo
(9, 10)
,
Guillemette Devernois
,
Thomas Eggermann
(11)
,
Francesca Elli
(1)
,
Kathleen Freson
(12)
,
Aurora García Ramirez
,
Emily Germain-Lee
(13, 14)
,
Lionel Groussin
(15, 16)
,
Neveen Hamdy
(17)
,
Patrick Hanna
(18)
,
Olaf Hiort
(5)
,
Harald Jüppner
(19)
,
Peter Kamenicky
(20)
,
Nina Knight
,
Marie-Laure Kottler
(21, 22)
,
Elvire Le Norcy
(23)
,
Beatriz Lecumberri
(24)
,
Michael Levine
(25)
,
Outi Mäkitie
(26)
,
Regina Martin
(27)
,
Gabriel Ángel Martos-Moreno
(27)
,
Masanori Minagawa
(28)
,
Philip Murray
(29)
,
Arrate Pereda
(30)
,
Robert Pignolo
(31)
,
Lars Rejnmark
(32)
,
Rebecca Rodado
,
Anya Rothenbuhler
(33)
,
Vrinda Saraff
(34)
,
Ashley Shoemaker
(35)
,
Eileen Shore
(36)
,
Caroline Silve
(37, 15)
,
Serap Turan
(38)
,
Philip Woods
,
M Carola Zillikens
(39)
,
Guiomar Perez de Nanclares
(30)
,
Agnès Linglart
(40, 33)
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 Aachen - RWTH Aachen University = Rheinisch-Westfälische Technische Hochschule Aachen
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-Carlos III [Madrid]
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
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 Aachen - RWTH Aachen University = Rheinisch-Westfälische Technische Hochschule Aachen
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-Carlos III [Madrid]
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
Luisa de Sanctis
- Fonction : Auteur
- PersonId : 911980
Timothée Choplin
- Fonction : Auteur
Guillemette Devernois
- Fonction : Auteur
Kathleen Freson
- Fonction : Auteur
- PersonId : 891615
Aurora García Ramirez
- Fonction : Auteur
Nina Knight
- Fonction : Auteur
Marie-Laure Kottler
- Fonction : Auteur
- PersonId : 870692
Beatriz Lecumberri
- Fonction : Auteur
- PersonId : 899484
Outi Mäkitie
- Fonction : Auteur
- PersonId : 909563
Rebecca Rodado
- Fonction : Auteur
Philip Woods
- Fonction : Auteur
Agnès Linglart
- Fonction : Auteur
- PersonId : 1240086
- IdHAL : linglart
- ORCID : 0000-0003-3455-002X
- IdRef : 153063246
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.