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Article

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

1
Department of Internal Medicine, Division of Endocrinology, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
2
Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
3
Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands
4
Academic Centre for Growth Disorders, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
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Rare Diseases Center of Reference ‘Prader-Willi Syndrome and Obesity with Eating Disorders’ (PRADORT), Nutrition Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, F-75013 Paris, France
6
International Network for Research, Management & Education on adults with PWS (INfoRMEd-PWS)
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ENDO-ERN (European Reference Network)
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PsychoNeuroEndocrinology Research Group, Centre for Neuropsychopharmacology, Division of Psychiatry, and Computational, Cognitive and Clinical Neuroimaging Laboratory, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London W12 0NN, UK
9
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London W12 0HS, UK
10
Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden
11
Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Department of Endocrinology, Karolinska University Hospital, 17176 Stockholm, Sweden
12
Metabolism & Obesity Services, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia
13
Charles Perkins Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia
14
Divison of Auxology, Istituto Auxologico Italiano, IRCCS, 28824 Piancavallo, Italy
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Reference Center for Prader-Willi Syndrome, Bambino Gesù Hospital, Research Institute, 00050 Palidoro, Italy
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Endocrinology and Nutrition Department, Institut d’Investigació I Innovació Parc Taulí I3PT, Parc Taulí Hospital Universitari, Department of Medicine, Universitat Autònoma de Barcelona, 08208 Sabadell, Spain
17
The Israel Multidisciplinary Prader-Willi Syndrome Clinic, Jerusalem 9103102, Israel
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Reproductive Endocrinology and Genetics Unit, Department of Obstetrics and Gynecology, Shaare-Zedek Medical Center, Jerusalem 9103102, Israel
19
Hebrew University School of Medicine, Jerusalem 9112102, Israel
20
Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem 9103102, Israel
21
Neuropediatrics Unit, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem 9103102, Israel
22
Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA
23
Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL 32610, USA
24
Department of Hospital Pharmacy, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
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Department of Clinical Chemistry, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this study.
Academic Editor: Pierpaolo Trimboli
J. Clin. Med. 2021, 10(24), 5781; https://doi.org/10.3390/jcm10245781
Received: 29 October 2021 / Revised: 23 November 2021 / Accepted: 28 November 2021 / Published: 10 December 2021
(This article belongs to the Collection Endocrinology and Metabolic Diseases: Prader-Willi Syndrome)
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. View Full-Text
Keywords: Prader-Willi syndrome; hypogonadism; hypothalamus; pituitary gland; estrogens; menstrual cycle; obesity; puberty Prader-Willi syndrome; hypogonadism; hypothalamus; pituitary gland; estrogens; menstrual cycle; obesity; puberty
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MDPI and ACS Style

Pellikaan, K.; Ben Brahim, Y.; Rosenberg, A.G.W.; Davidse, K.; Poitou, C.; Coupaye, M.; Goldstone, A.P.; Høybye, C.; Markovic, T.P.; Grugni, G.; Crinò, A.; Caixàs, A.; Eldar-Geva, T.; Hirsch, H.J.; Gross-Tsur, V.; Butler, M.G.; Miller, J.L.; van der Kuy, P.-H.M.; van den Berg, S.A.A.; Visser, J.A.; van der Lely, A.J.; de Graaff, L.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. J. Clin. Med. 2021, 10, 5781. https://doi.org/10.3390/jcm10245781

AMA Style

Pellikaan K, Ben Brahim Y, Rosenberg AGW, Davidse K, Poitou C, Coupaye M, Goldstone AP, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Eldar-Geva T, Hirsch HJ, Gross-Tsur V, Butler MG, Miller JL, van der Kuy P-HM, van den Berg SAA, Visser JA, van der Lely AJ, de Graaff LCG. 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. Journal of Clinical Medicine. 2021; 10(24):5781. https://doi.org/10.3390/jcm10245781

Chicago/Turabian Style

Pellikaan, Karlijn, Yassine Ben Brahim, Anna G. W. Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, Anthony P. Goldstone, Charlotte Høybye, Tania P. Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Talia Eldar-Geva, Harry J. Hirsch, Varda Gross-Tsur, Merlin G. Butler, Jennifer L. Miller, Paul-Hugo M. van der Kuy, Sjoerd A. A. van den Berg, Jenny A. Visser, Aart J. van der Lely, and Laura C. G. de Graaff. 2021. "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" Journal of Clinical Medicine 10, no. 24: 5781. https://doi.org/10.3390/jcm10245781

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