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Reviews in Endocrine and Metabolic Disorders
Published in: Reviews in Endocrine and Metabolic Disorders 2/2019

01-06-2019 | Obesity

Prader- Willi syndrome: An uptodate on endocrine and metabolic complications

Authors: Giovanna Muscogiuri, Gloria Formoso, Gabriella Pugliese, Rosaria Maddalena Ruggeri, Elisabetta Scarano, Annamaria Colao, on behalf of RESTARE

Published in: Reviews in Endocrine and Metabolic Disorders | Issue 2/2019

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Abstract

Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. It is caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. This genetic disorder has an estimated prevalence that ranges between 1/10,000–1/30,000. Hypothalamic dysfunction is a common finding in PWS and it has been implicated in several manifestations of this syndrome such as hyperphagia, temperature instability, high pain threshold, sleep disordered breathing, and multiple endocrine abnormalities. These include growth hormone deficiency, central adrenal insufficiency, hypogonadism, hypothyroidism, and obesity often complicated by type 2 diabetes. The aim of this manuscript is to overview the current literature on metabolic and endocrine complications of PWS, focusing on human studies and providing insights on the physio pathological mechanisms. A careful management of metabolic and endocrine complications can contribute to improve quality of life, prevent complications, and prolong life expectancy of PW patients.
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Metadata
Title
Prader- Willi syndrome: An uptodate on endocrine and metabolic complications
Authors
Giovanna Muscogiuri
Gloria Formoso
Gabriella Pugliese
Rosaria Maddalena Ruggeri
Elisabetta Scarano
Annamaria Colao
on behalf of RESTARE
Publication date
01-06-2019
Publisher
Springer US
Published in
Reviews in Endocrine and Metabolic Disorders / Issue 2/2019
Print ISSN: 1389-9155
Electronic ISSN: 1573-2606
DOI
https://doi.org/10.1007/s11154-019-09502-2

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