دورية أكاديمية
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
| العنوان: | 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 |
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| المؤلفون: | 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, van den Berg, Sjoerd, a A, Visser, Jenny, A, van Der Lely, Aart, J, de Graaff, Laura, C G |
| المساهمون: | Erasmus University Medical Center Rotterdam (Erasmus MC), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imperial College London, Hammersmith Hospital NHS Imperial College Healthcare, Karolinska Institutet Stockholm, Karolinska University Hospital Stockholm, The University of Sydney, Royal Prince Alfred Hospital Sydney, Australia, IRCCS Istituto Auxologico Italiano, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), The Hebrew University Hadassah Medical School, Shaare Zedek Medical Center, University of Kansas Medical Center Kansas City, KS, USA, University of Florida Gainesville (UF) |
| المصدر: | ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.sorbonne-universite.fr/hal-03512292Test ; Journal of Clinical Medicine, 2021, 10 (24), pp.5781. ⟨10.3390/jcm10245781⟩. |
| بيانات النشر: | HAL CCSD MDPI |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | obesity, puberty, Prader-Willi syndrome, hypogonadism, hypothalamus, pituitary gland, estrogens, menstrual cycle, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | International audience ; 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | hal-03512292; https://hal.sorbonne-universite.fr/hal-03512292Test; https://hal.sorbonne-universite.fr/hal-03512292/documentTest; https://hal.sorbonne-universite.fr/hal-03512292/file/jcm-10-05781.pdfTest |
| DOI: | 10.3390/jcm10245781 |
| الإتاحة: | https://doi.org/10.3390/jcm10245781Test https://hal.sorbonne-universite.fr/hal-03512292Test https://hal.sorbonne-universite.fr/hal-03512292/documentTest https://hal.sorbonne-universite.fr/hal-03512292/file/jcm-10-05781.pdfTest |
| حقوق: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.2D0D0635 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/jcm10245781 |
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