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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorALVES, Cresio
dc.contributor.authorFRANCO, Ruth Rocha
dc.identifier.citationARCHIVES OF ENDOCRINOLOGY METABOLISM, v.64, n.3, p.223-234, 2020
dc.description.abstractPrader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density. In addition, individuals with PWS have increased risk of developing type 2 diabetes mellitus. This review summarizes and updates the current knowledge about the prevention, diagnosis and treatment of endocrine manifestations associated with Prader Willi syndrome, especially diagnosis of growth hormone deficiency, management and monitoring of adverse effects; diagnosis of central adrenal insufficiency and management in stressful situations; screening for central hypothyroidism; research and treatment of hypogonadism; prevention and treatment of disorders of glucose metabolism. Careful attention to the endocrine aspects of PWS contributes significantly to the health of these individuals.eng
dc.relation.ispartofArchives of Endocrinology Metabolism
dc.subjectPrader-Willi syndromeeng
dc.subjectgrowth hormoneeng
dc.subjectadrenal insufficiencyeng
dc.subjectglucose abnormalitieseng
dc.subject.othergrowth-hormone treatmenteng
dc.subject.otherbone-mineral densityeng
dc.subject.othermotor developmenteng
dc.subject.othergh deficiencyeng
dc.subject.otherpeptide yyeng
dc.titlePrader-Willi syndrome: endocrine manifestations and managementeng
dc.subject.wosEndocrinology & Metabolismeng
dc.type.versionpublishedVersioneng, Cresio:Univ Fed Bahia UFBA, Hosp Univ Prof Edgard Santos, Fac Med, Unidade Endocrinol Pediat, Salvador, BA, Brazil
hcfmusp.publisher.cityRIO DE JANEIRO, RJeng
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