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Article

Hypogonadism in Adult Males 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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Department of Internal Medicine, Division of Endocrinology, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
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Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
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Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands
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Academic Center for Growth Disorders, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
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Assistance Publique-Hôpitaux de Paris, Rare Diseases Center of Reference ‘Prader-Willi Syndrome and Obesity with Eating Disorders’ (PRADORT), Nutrition Department, Pitié-Salpêtrière Hospital, F-75013 Paris, France
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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, Hammersmith Hospital, London W12 0NN, UK
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Department of Endocrinology, Imperial College Healthcare NHS Trust, London W12 0HS, UK
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Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden
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Department of Endocrinology, Karolinska University Hospital, 171 76 Stockholm, Sweden
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Metabolism & Obesity Services, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia
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Charles Perkins Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia
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Division 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 (Rome), Italy
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Endocrinology and Nutrition Department, Parc Taulí Hospital Universitari, Institut d’Investigació I Innovació Parc Taulí I3PT, Department of Medicine, Universitat Autònoma de Barcelona, 08208 Sabadell, Spain
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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
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Hebrew University School of Medicine, Jerusalem 9112102, Israel
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Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem 9103102, Israel
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Neuropediatrics Unit, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem 9103102, Israel
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Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA
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Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL 32610, USA
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Erasmus Medical Center, Department of Clinical Chemistry, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
*
Author to whom correspondence should be addressed.
Academic Editor: Claudia Giavoli
J. Clin. Med. 2021, 10(19), 4361; https://doi.org/10.3390/jcm10194361
Received: 5 August 2021 / Revised: 13 September 2021 / Accepted: 16 September 2021 / Published: 24 September 2021
(This article belongs to the Collection Endocrinology and Metabolic Diseases: Prader-Willi Syndrome)
Prader-Willi syndrome (PWS) is a complex genetic syndrome characterized by hyperphagia, intellectual disability, hypotonia and hypothalamic dysfunction. Adults with PWS often have hormone deficiencies, hypogonadism being the most common. Untreated male hypogonadism can aggravate PWS-related health issues including muscle weakness, obesity, osteoporosis, and fatigue. Therefore, timely diagnosis and treatment of male hypogonadism is important. In this article, we share our experience with hypogonadism and its treatment in adult males with PWS and present a review of the literature. In order to report the prevalence and type of hypogonadism, treatment regimen and behavioral issues, we retrospectively collected data on medical interviews, physical examinations, biochemical measurements and testosterone replacement therapy (TRT) in 57 Dutch men with PWS. Fifty-six (98%) of the patients had either primary, central or combined hypogonadism. Untreated hypogonadism was associated with higher body mass index and lower hemoglobin concentrations. TRT was complicated by behavioral challenges in one third of the patients. Undertreatment was common and normal serum testosterone levels were achieved in only 30% of the patients. Based on the Dutch cohort data, review of the literature and an international expert panel discussion, we provide a practical algorithm for TRT in adult males with PWS in order to prevent undertreatment and related adverse health outcomes. View Full-Text
Keywords: Prader-Willi syndrome; hypogonadism; pituitary gland; testosterone; obesity; puberty Prader-Willi syndrome; hypogonadism; pituitary gland; testosterone; 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 den Berg, S.A.A.; van der Lely, A.J.; de Graaff, L.C.G. Hypogonadism in Adult Males 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, 4361. https://doi.org/10.3390/jcm10194361

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 den Berg SAA, van der Lely AJ, de Graaff LCG. Hypogonadism in Adult Males 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(19):4361. https://doi.org/10.3390/jcm10194361

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, Sjoerd A. A. van den Berg, Aart J. van der Lely, and Laura C. G. de Graaff. 2021. "Hypogonadism in Adult Males 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. 19: 4361. https://doi.org/10.3390/jcm10194361

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