Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Author
Mantovani, Giovanna; Bastepe, Murat; Monk, David; De Sanctis, Luisa; Thiele, Susanne; Usardi, Alessia; Ahmed, S. Faisal; Bufo, Roberto; Choplin, Timothée; De Filippo, Gianpaolo; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M.; Freson, Kathleen; García Ramirez, Aurora; Germain- Lee, Emily L.; Groussin, Lionel; Hamdy, Neveen; Hanna, Patrick; Hiort, Olaf; Jüppner, Harald; Kamenický, Peter; Knight, Nina; Kottler, Marie-Laure; Le Norcy, Elvire; Lecumberri, Beatriz; Levine, Michael A.; Mäkitie, Outi; Martin, Regina; Martos Moreno, Gabriel Ángel; Minagawa, Masanori; Murray, Phillip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebecca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H.; Shore, Eileen M.; Silve, Caroline; Turan, Serap; Woods, Philip; Zillikens, M. Carola; Pérez de Nanclares, Guiomar; Linglart, AgnèsEntity
UAM. Departamento de Medicina; UAM. Departamento de Pediatría; Instituto de Investigación del Hospital de La Princesa (IP); Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)Publisher
Nature Research (part of Springer Nature)Date
2018-06-29Citation
10.1038/ s41574-018-0042-0
Nature Reviews Endocrinology 14.8 (2018): 476-500
ISSN
1759-5029 (print); 1759-5037 (online)DOI
10.1038/ s41574-018-0042-0Funded by
This Consensus Statement and the series of consensus meetings were supported by funds from the European Cooperation in Science and Technology (COST) action BM1208 on imprinting disorders (www.imprinting- disorders.eu), the European Society for Paediatric Endocrinology (ESPE) and the European Society for Endocrinology (ESE). Travel costs and housing of the representatives of the Asian Pacific Paediatric Endocrine Society (APPES) and of the Pediatric Endocrine Society (PES) were supported by their societies. The authors received no funding from pharmaceutical companiesEditor's Version
https://doi.org/10.1038/ s41574-018-0042-0Subjects
Consensus statement; Diagnosis and management; Pseudohypoparathyroidism; Disorders; MedicinaRights
© 2018 Macmillan Publishers Ltd., part of Springer NatureAbstract
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
Files in this item
Google Scholar:Mantovani, Giovanna
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Bastepe, Murat
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Monk, David
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De Sanctis, Luisa
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Thiele, Susanne
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Usardi, Alessia
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Ahmed, S. Faisal
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Bufo, Roberto
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Choplin, Timothée
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De Filippo, Gianpaolo
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Devernois, Guillemette
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Eggermann, Thomas
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Elli, Francesca M.
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Freson, Kathleen
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García Ramirez, Aurora
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Germain- Lee, Emily L.
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Groussin, Lionel
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Hamdy, Neveen
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Hanna, Patrick
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Hiort, Olaf
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Jüppner, Harald
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Kamenický, Peter
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Knight, Nina
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Kottler, Marie-Laure
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Le Norcy, Elvire
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Lecumberri, Beatriz
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Levine, Michael A.
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Mäkitie, Outi
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Martin, Regina
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Martos Moreno, Gabriel Ángel
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Minagawa, Masanori
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Murray, Phillip
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Pereda, Arrate
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Pignolo, Robert
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Rejnmark, Lars
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Rodado, Rebecca
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Rothenbuhler, Anya
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Saraff, Vrinda
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Shoemaker, Ashley H.
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Shore, Eileen M.
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Silve, Caroline
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Turan, Serap
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Woods, Philip
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Zillikens, M. Carola
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Pérez de Nanclares, Guiomar
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Linglart, Agnès
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