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Adrenal insufficiency in patients with Prader-Willi syndrome

The generalized dysfunction of the hypothalamic-pituitary axis in patients with Prader-Willi syndrome (PWS) is the most likely cause of hypogonadism, inadequate growth hormone secretion, excessive appetite and associated obesity, impaired body temperature regulation, and hypothyroidism. The syndrome...

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Autores principales: Kusz, Marcin Jerzy, Gawlik, Aneta Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714690/
https://www.ncbi.nlm.nih.gov/pubmed/36465638
http://dx.doi.org/10.3389/fendo.2022.1021704
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author Kusz, Marcin Jerzy
Gawlik, Aneta Monika
author_facet Kusz, Marcin Jerzy
Gawlik, Aneta Monika
author_sort Kusz, Marcin Jerzy
collection PubMed
description The generalized dysfunction of the hypothalamic-pituitary axis in patients with Prader-Willi syndrome (PWS) is the most likely cause of hypogonadism, inadequate growth hormone secretion, excessive appetite and associated obesity, impaired body temperature regulation, and hypothyroidism. The syndrome is also related to an increased risk of central adrenal insufficiency, although its prevalence remains unknown. The results of the studies in which different methods of pharmacological stimulation were used do not provide conclusive outcomes. As a result, there are no clear guidelines with regard to diagnosis, prevention, or long-term care when adrenal insufficiency is suspected in patients with PWS. Currently, most patients with PWS are treated with recombinant human growth hormone (rhGH). It has been confirmed that rhGH therapy has a positive effect on growth, body composition, body mass index (BMI), and potentially on psychomotor development in children with PWS. Additionally, rhGH may reduce the conversion of cortisone to cortisol through inhibition of 11β-hydroxysteroid dehydrogenase type 1. However, its influence on basal adrenal function and adrenal stress response remains unexplained in children with PWS. This paper reviews the literature related to the hypothalamic-pituitary-adrenal axis dysfunction in the PWS patient population with a focus on children.
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spelling pubmed-97146902022-12-02 Adrenal insufficiency in patients with Prader-Willi syndrome Kusz, Marcin Jerzy Gawlik, Aneta Monika Front Endocrinol (Lausanne) Endocrinology The generalized dysfunction of the hypothalamic-pituitary axis in patients with Prader-Willi syndrome (PWS) is the most likely cause of hypogonadism, inadequate growth hormone secretion, excessive appetite and associated obesity, impaired body temperature regulation, and hypothyroidism. The syndrome is also related to an increased risk of central adrenal insufficiency, although its prevalence remains unknown. The results of the studies in which different methods of pharmacological stimulation were used do not provide conclusive outcomes. As a result, there are no clear guidelines with regard to diagnosis, prevention, or long-term care when adrenal insufficiency is suspected in patients with PWS. Currently, most patients with PWS are treated with recombinant human growth hormone (rhGH). It has been confirmed that rhGH therapy has a positive effect on growth, body composition, body mass index (BMI), and potentially on psychomotor development in children with PWS. Additionally, rhGH may reduce the conversion of cortisone to cortisol through inhibition of 11β-hydroxysteroid dehydrogenase type 1. However, its influence on basal adrenal function and adrenal stress response remains unexplained in children with PWS. This paper reviews the literature related to the hypothalamic-pituitary-adrenal axis dysfunction in the PWS patient population with a focus on children. Frontiers Media S.A. 2022-11-17 /pmc/articles/PMC9714690/ /pubmed/36465638 http://dx.doi.org/10.3389/fendo.2022.1021704 Text en Copyright © 2022 Kusz and Gawlik https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Kusz, Marcin Jerzy
Gawlik, Aneta Monika
Adrenal insufficiency in patients with Prader-Willi syndrome
title Adrenal insufficiency in patients with Prader-Willi syndrome
title_full Adrenal insufficiency in patients with Prader-Willi syndrome
title_fullStr Adrenal insufficiency in patients with Prader-Willi syndrome
title_full_unstemmed Adrenal insufficiency in patients with Prader-Willi syndrome
title_short Adrenal insufficiency in patients with Prader-Willi syndrome
title_sort adrenal insufficiency in patients with prader-willi syndrome
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714690/
https://www.ncbi.nlm.nih.gov/pubmed/36465638
http://dx.doi.org/10.3389/fendo.2022.1021704
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