Prader-Willi syndrome: endocrine manifestations and management

Detalhes bibliográficos
Autor(a) principal: Alves,Crésio
Data de Publicação: 2020
Outros Autores: Franco,Ruth Rocha
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de Endocrinologia e Metabolismo (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000300223
Resumo: ABSTRACT Prader-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. Arch Endocrinol Metab. 2020;64(3):223-34
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spelling Prader-Willi syndrome: endocrine manifestations and managementPrader-Willi syndromegrowth hormonehypogonadismhypothyroidism, adrenal insufficiencyglucose abnormalitiesABSTRACT Prader-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. Arch Endocrinol Metab. 2020;64(3):223-34Sociedade Brasileira de Endocrinologia e Metabologia2020-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000300223Archives of Endocrinology and Metabolism v.64 n.3 2020reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.20945/2359-3997000000248info:eu-repo/semantics/openAccessAlves,CrésioFranco,Ruth Rochaeng2020-06-09T00:00:00Zoai:scielo:S2359-39972020000300223Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2020-06-09T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false
dc.title.none.fl_str_mv Prader-Willi syndrome: endocrine manifestations and management
title Prader-Willi syndrome: endocrine manifestations and management
spellingShingle Prader-Willi syndrome: endocrine manifestations and management
Alves,Crésio
Prader-Willi syndrome
growth hormone
hypogonadism
hypothyroidism, adrenal insufficiency
glucose abnormalities
title_short Prader-Willi syndrome: endocrine manifestations and management
title_full Prader-Willi syndrome: endocrine manifestations and management
title_fullStr Prader-Willi syndrome: endocrine manifestations and management
title_full_unstemmed Prader-Willi syndrome: endocrine manifestations and management
title_sort Prader-Willi syndrome: endocrine manifestations and management
author Alves,Crésio
author_facet Alves,Crésio
Franco,Ruth Rocha
author_role author
author2 Franco,Ruth Rocha
author2_role author
dc.contributor.author.fl_str_mv Alves,Crésio
Franco,Ruth Rocha
dc.subject.por.fl_str_mv Prader-Willi syndrome
growth hormone
hypogonadism
hypothyroidism, adrenal insufficiency
glucose abnormalities
topic Prader-Willi syndrome
growth hormone
hypogonadism
hypothyroidism, adrenal insufficiency
glucose abnormalities
description ABSTRACT Prader-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. Arch Endocrinol Metab. 2020;64(3):223-34
publishDate 2020
dc.date.none.fl_str_mv 2020-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000300223
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972020000300223
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.20945/2359-3997000000248
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv Archives of Endocrinology and Metabolism v.64 n.3 2020
reponame:Arquivos de Endocrinologia e Metabolismo (Online)
instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
instname_str Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron_str SBEM
institution SBEM
reponame_str Arquivos de Endocrinologia e Metabolismo (Online)
collection Arquivos de Endocrinologia e Metabolismo (Online)
repository.name.fl_str_mv Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
repository.mail.fl_str_mv ||aem.editorial.office@endocrino.org.br
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