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Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

Prader-Willi syndrome (PWS) is a rare neuroendocrine genetic syndrome. Characteristics of PWS include hyperphagia, hypotonia, and intellectual disability. Pituitary hormone deficiencies, caused by hypothalamic dysfunction, are common and hypogonadism is the most prevalent. Untreated hypogonadism can...

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Autores principales: Pellikaan, Karlijn, Ben Brahim, Yassine, Rosenberg, Anna G. W., Davidse, Kirsten, Poitou, Christine, Coupaye, Muriel, Goldstone, Anthony P., Høybye, Charlotte, Markovic, Tania P., Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Eldar-Geva, Talia, Hirsch, Harry J., Gross-Tsur, Varda, Butler, Merlin G., Miller, Jennifer L., van der Kuy, Paul-Hugo M., van den Berg, Sjoerd A. A., Visser, Jenny A., van der Lely, Aart J., de Graaff, Laura C. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8707541/
https://www.ncbi.nlm.nih.gov/pubmed/34945077
http://dx.doi.org/10.3390/jcm10245781
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author Pellikaan, Karlijn
Ben Brahim, Yassine
Rosenberg, Anna G. W.
Davidse, Kirsten
Poitou, Christine
Coupaye, Muriel
Goldstone, Anthony P.
Høybye, Charlotte
Markovic, Tania P.
Grugni, Graziano
Crinò, Antonino
Caixàs, Assumpta
Eldar-Geva, Talia
Hirsch, Harry J.
Gross-Tsur, Varda
Butler, Merlin G.
Miller, Jennifer L.
van der Kuy, Paul-Hugo M.
van den Berg, Sjoerd A. A.
Visser, Jenny A.
van der Lely, Aart J.
de Graaff, Laura C. G.
author_facet Pellikaan, Karlijn
Ben Brahim, Yassine
Rosenberg, Anna G. W.
Davidse, Kirsten
Poitou, Christine
Coupaye, Muriel
Goldstone, Anthony P.
Høybye, Charlotte
Markovic, Tania P.
Grugni, Graziano
Crinò, Antonino
Caixàs, Assumpta
Eldar-Geva, Talia
Hirsch, Harry J.
Gross-Tsur, Varda
Butler, Merlin G.
Miller, Jennifer L.
van der Kuy, Paul-Hugo M.
van den Berg, Sjoerd A. A.
Visser, Jenny A.
van der Lely, Aart J.
de Graaff, Laura C. G.
author_sort Pellikaan, Karlijn
collection PubMed
description Prader-Willi syndrome (PWS) is a rare neuroendocrine genetic syndrome. Characteristics of PWS include hyperphagia, hypotonia, and intellectual disability. Pituitary hormone deficiencies, caused by hypothalamic dysfunction, are common and hypogonadism is the most prevalent. Untreated hypogonadism can cause osteoporosis, which is already an important issue in PWS. Therefore, timely detection and treatment of hypogonadism is crucial. To increase understanding and prevent undertreatment, we (1) performed a cohort study in the Dutch PWS population, (2) thoroughly reviewed the literature on female hypogonadism in PWS and (3) provide clinical recommendations on behalf of an international expert panel. For the cohort study, we retrospectively collected results of a systematic health screening in 64 female adults with PWS, which included a medical questionnaire, medical file search, medical interview, physical examination and biochemical measurements. Our data show that hypogonadism is frequent in females with PWS (94%), but is often undiagnosed and untreated. This could be related to unfamiliarity with the syndrome, fear of behavioral changes, hygienic concerns, or drug interactions. To prevent underdiagnosis and undertreatment, we provide practical recommendations for the screening and treatment of hypogonadism in females with PWS.
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spelling pubmed-87075412021-12-25 Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion Pellikaan, Karlijn Ben Brahim, Yassine Rosenberg, Anna G. W. Davidse, Kirsten Poitou, Christine Coupaye, Muriel Goldstone, Anthony P. Høybye, Charlotte Markovic, Tania P. Grugni, Graziano Crinò, Antonino Caixàs, Assumpta Eldar-Geva, Talia Hirsch, Harry J. Gross-Tsur, Varda Butler, Merlin G. Miller, Jennifer L. van der Kuy, Paul-Hugo M. van den Berg, Sjoerd A. A. Visser, Jenny A. van der Lely, Aart J. de Graaff, Laura C. G. J Clin Med Article Prader-Willi syndrome (PWS) is a rare neuroendocrine genetic syndrome. Characteristics of PWS include hyperphagia, hypotonia, and intellectual disability. Pituitary hormone deficiencies, caused by hypothalamic dysfunction, are common and hypogonadism is the most prevalent. Untreated hypogonadism can cause osteoporosis, which is already an important issue in PWS. Therefore, timely detection and treatment of hypogonadism is crucial. To increase understanding and prevent undertreatment, we (1) performed a cohort study in the Dutch PWS population, (2) thoroughly reviewed the literature on female hypogonadism in PWS and (3) provide clinical recommendations on behalf of an international expert panel. For the cohort study, we retrospectively collected results of a systematic health screening in 64 female adults with PWS, which included a medical questionnaire, medical file search, medical interview, physical examination and biochemical measurements. Our data show that hypogonadism is frequent in females with PWS (94%), but is often undiagnosed and untreated. This could be related to unfamiliarity with the syndrome, fear of behavioral changes, hygienic concerns, or drug interactions. To prevent underdiagnosis and undertreatment, we provide practical recommendations for the screening and treatment of hypogonadism in females with PWS. MDPI 2021-12-10 /pmc/articles/PMC8707541/ /pubmed/34945077 http://dx.doi.org/10.3390/jcm10245781 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Pellikaan, Karlijn
Ben Brahim, Yassine
Rosenberg, Anna G. W.
Davidse, Kirsten
Poitou, Christine
Coupaye, Muriel
Goldstone, Anthony P.
Høybye, Charlotte
Markovic, Tania P.
Grugni, Graziano
Crinò, Antonino
Caixàs, Assumpta
Eldar-Geva, Talia
Hirsch, Harry J.
Gross-Tsur, Varda
Butler, Merlin G.
Miller, Jennifer L.
van der Kuy, Paul-Hugo M.
van den Berg, Sjoerd A. A.
Visser, Jenny A.
van der Lely, Aart J.
de Graaff, Laura C. G.
Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
title Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
title_full Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
title_fullStr Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
title_full_unstemmed Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
title_short Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
title_sort hypogonadism in women with prader-willi syndrome—clinical recommendations based on a dutch cohort study, review of the literature and an international expert panel discussion
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8707541/
https://www.ncbi.nlm.nih.gov/pubmed/34945077
http://dx.doi.org/10.3390/jcm10245781
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