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Pituitary-Adrenal Axis in Prader Willi Syndrome

Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was conducted to investigate its prevalence and r...

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Autores principales: Edgar, Olivia S., Lucas-Herald, Angela K., Shaikh, Mohamad Guftar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456314/
https://www.ncbi.nlm.nih.gov/pubmed/28933385
http://dx.doi.org/10.3390/diseases4010005
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author Edgar, Olivia S.
Lucas-Herald, Angela K.
Shaikh, Mohamad Guftar
author_facet Edgar, Olivia S.
Lucas-Herald, Angela K.
Shaikh, Mohamad Guftar
author_sort Edgar, Olivia S.
collection PubMed
description Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was conducted to investigate its prevalence and relevance in PWS in both adults and children. Methodology: A literature review was performed with the search terms “Prader-Willi syndrome” and “adrenal insufficiency”. Results: The review found studies disagree on the prevalence and method of investigation of AI in PWS. Case studies demonstrate that patients with PWS are at risk of premature death, often secondary to respiratory infections. The possibility that this may be the result of the inability to mount an effective cortisol response has been studied, with some evidence confirming AI in PWS patients. Most reports agreed AI is present in PWS, however, Farholt et al. showed no HPA axis dysfunction in adults, suggesting that perhaps it is rare in adults, and children should be the focus of further studies. Conclusion: AI is present in some patients with PWS. Further research is required to ensure optimal treatment can be implemented and to prevent premature deaths related to adrenal insufficiency. Clinicians should have a low threshold for testing the adrenal axis and considering treatment for adrenal insufficiency in PWS patients.
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spelling pubmed-54563142017-09-12 Pituitary-Adrenal Axis in Prader Willi Syndrome Edgar, Olivia S. Lucas-Herald, Angela K. Shaikh, Mohamad Guftar Diseases Review Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was conducted to investigate its prevalence and relevance in PWS in both adults and children. Methodology: A literature review was performed with the search terms “Prader-Willi syndrome” and “adrenal insufficiency”. Results: The review found studies disagree on the prevalence and method of investigation of AI in PWS. Case studies demonstrate that patients with PWS are at risk of premature death, often secondary to respiratory infections. The possibility that this may be the result of the inability to mount an effective cortisol response has been studied, with some evidence confirming AI in PWS patients. Most reports agreed AI is present in PWS, however, Farholt et al. showed no HPA axis dysfunction in adults, suggesting that perhaps it is rare in adults, and children should be the focus of further studies. Conclusion: AI is present in some patients with PWS. Further research is required to ensure optimal treatment can be implemented and to prevent premature deaths related to adrenal insufficiency. Clinicians should have a low threshold for testing the adrenal axis and considering treatment for adrenal insufficiency in PWS patients. MDPI 2016-01-19 /pmc/articles/PMC5456314/ /pubmed/28933385 http://dx.doi.org/10.3390/diseases4010005 Text en © 2016 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Edgar, Olivia S.
Lucas-Herald, Angela K.
Shaikh, Mohamad Guftar
Pituitary-Adrenal Axis in Prader Willi Syndrome
title Pituitary-Adrenal Axis in Prader Willi Syndrome
title_full Pituitary-Adrenal Axis in Prader Willi Syndrome
title_fullStr Pituitary-Adrenal Axis in Prader Willi Syndrome
title_full_unstemmed Pituitary-Adrenal Axis in Prader Willi Syndrome
title_short Pituitary-Adrenal Axis in Prader Willi Syndrome
title_sort pituitary-adrenal axis in prader willi syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456314/
https://www.ncbi.nlm.nih.gov/pubmed/28933385
http://dx.doi.org/10.3390/diseases4010005
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