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 (Erasmus University Medical Center Rotterdam (Rotterdam, Països Baixos))
Ben Brahim, Yassine (Erasmus University Medical Center Rotterdam (Rotterdam, Països Baixos))
Rosenberg, Anna G. W. (Erasmus University Medical Center Rotterdam (Rotterdam, Països Baixos))
Davidse, Kirsten (Erasmus University Medical Center Rotterdam (Rotterdam, Països Baixos))
Poitou, Christine (ENDO-ERN (European Reference Network))
Coupaye, Muriel (ENDO-ERN (European Reference Network))
Goldstone, Anthony (Hammersmith Hospital (Londres))
Høybye, Charlotte (Karolinska University Hospital and Karolinska Institutet (Suecia))
Markovic, Tania (University of Sydney)
Grugni, Graziano (Istituto Auxologico Italiano)
Crinò, Antonino (Bambino Gesù Hospital)
Caixàs i Pedragós, Assumpta (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Eldar-Geva, Talia (Hebrew University School of Medicine)
Hirsch, Harry (Shaare Zedek Medical Center)
Gross-Tsur, Varda (Shaare Zedek Medical Center)
Butler, Merlin (University of Kansas Medical Center)
Miller, Jennifer L. (University of Florida)
van der Kuy, Paul-Hugo M. (Erasmus University Medical Center Rotterdam)
van den Berg, Sjoerd A. A. (Erasmus University Medical Center Rotterdam)
Visser, Jenny A. (Erasmus University Medical Center Rotterdam)
van der Lely, Aart J. (Erasmus University Medical Center Rotterdam)
de Graaff, Laura (ENDO-ERN (European Reference Network))
Universitat Autònoma de Barcelona

Data:	2021
Resum:	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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Prader-Willi syndrome ; Hypogonadism ; Hypothalamus ; Pituitary gland ; Estrogens ; Menstrual cycle ; Obesity ; Puberty
Publicat a:	Journal of clinical medicine, Vol. 10 (december 2021) , ISSN 2077-0383

DOI: 10.3390/jcm10245781
PMID: 34945077

22 p, 1.7 MB

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut d’Investigació i Innovació Parc Taulí (I3PT)
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