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Prader-Willi syndrome: endocrine manifestations and management
Hospital Universitário Prof. Edgard SantosAlves, Crésio; Hospital das ClínicasFranco, Ruth Rocha.
  • Hospital Universitário Prof. Edgard SantosAlves, Crésio; Universidade Federal da Bahia. Faculdade de Medicina. Hospital Universitário Prof. Edgard SantosAlves, Crésio. Salvador. BR
  • Hospital das ClínicasFranco, Ruth Rocha; Universidade de São Paulo. Faculdade de Medicina. Hospital das ClínicasFranco, Ruth Rocha. São Paulo. BR
Arch. endocrinol. metab. (Online) ; 64(3): 223-234, May-June 2020. tab
Article in English | LILACS | ID: biblio-1131088
ABSTRACT
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
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Prader-Willi Syndrome Type of study: Etiology study Limits: Humans Language: English Journal: Arch. endocrinol. metab. (Online) Journal subject: Endocrinology / Metabolism Year: 2020 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal da Bahia/BR / Universidade de São Paulo/BR

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Full text: Available Index: LILACS (Americas) Main subject: Prader-Willi Syndrome Type of study: Etiology study Limits: Humans Language: English Journal: Arch. endocrinol. metab. (Online) Journal subject: Endocrinology / Metabolism Year: 2020 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal da Bahia/BR / Universidade de São Paulo/BR