Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/36212
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dc.contributor.authorMantovani, Giovanna
dc.contributor.authorBastepe, Murat
dc.contributor.authorMonk, David
dc.contributor.authorde Sanctis, Luisa
dc.contributor.authorThiele, Susanne
dc.contributor.authorUsardi, Alessia
dc.contributor.authorAhmed, S Faisal
dc.contributor.authorBufo, Roberto
dc.contributor.authorChoplin, Timothée
dc.contributor.authorDe Filippo, Gianpaolo
dc.contributor.authorDevernois, Guillemette
dc.contributor.authorEggermann, Thomas
dc.contributor.authorElli, Francesca M
dc.contributor.authorFreson, Kathleen
dc.contributor.authorGarcía Ramirez, Aurora
dc.contributor.authorGermain-Lee, Emily L
dc.contributor.authorGroussin, Lionel
dc.contributor.authorHamdy, Neveen
dc.contributor.authorHanna, Patrick
dc.contributor.authorHiort, Olaf
dc.contributor.authorJüppner, Harald
dc.contributor.authorKamenický, Peter
dc.contributor.authorKnight, Nina
dc.contributor.authorKottler, Marie-Laure
dc.contributor.authorLe Norcy, Elvire
dc.contributor.authorLecumberri, Beatriz
dc.contributor.authorLevine, Michael A
dc.contributor.authorMäkitie, Outi
dc.contributor.authorMartin, Regina
dc.contributor.authorMartos-Moreno, Gabriel Ángel
dc.contributor.authorMinagawa, Masanori
dc.contributor.authorMurray, Philip
dc.contributor.authorPereda, Arrate
dc.contributor.authorPignolo, Robert
dc.contributor.authorRejnmark, Lars
dc.contributor.authorRodado, Rebecca
dc.contributor.authorRothenbuhler, Anya
dc.contributor.authorSaraff, Vrinda
dc.contributor.authorShoemaker, Ashley H
dc.contributor.authorShore, Eileen M
dc.contributor.authorSilve, Caroline
dc.contributor.authorTuran, Serap
dc.contributor.authorWoods, Philip
dc.contributor.authorZillikens, M Carola
dc.contributor.authorPerez de Nanclares, Guiomar
dc.contributor.authorLinglart, Agnès
dc.date.accessioned2019-06-28T18:08:08Z-
dc.date.available2019-06-28T18:08:08Z-
dc.date.issued2018-08
dc.identifier.citationNat Rev Endocrinol.2018 Aug;(14)8:476-500
dc.identifier.urihttps://hdl.handle.net/20.500.12530/36212-
dc.description.abstractThis 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.
dc.language.isoeng
dc.rightsopenAccess-
dc.titleDiagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
dc.typeArtículo
dc.identifier.pubmedID29959430
dc.format.volume14
dc.format.page476-500
dc.identifier.e-issn1759-5037
dc.identifier.journalNature reviews. Endocrinology
dc.identifier.doi10.1038/s41574-018-0042-0
dc.format.number8
dc.identifier.pmcPMC6541219
dc.pubmedtypeJournal Article
dc.pubmedtypeReview
Appears in Collections:Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. La Princesa > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos
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