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2. Obésités rares

Author

Mosbah, H., primary, Faucher, P., additional, Heide, S., additional, Dubern, B., additional, Clément, K., additional, and Poitou, C., additional

Published
2021
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8. Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.

Author

Abswoude, D.H. van, Pellikaan, K., Nguyen, N., Rosenberg, A.G.W., Davidse, K., Hoekstra, F.M.E., Rood, I.M., Poitou, C., Grugni, G., Høybye, C., Markovic, T.P., Caixàs, A., Crinò, A., Berg, S.A. van den, Lely, A.J. van der, Graaff, L.C.G. de, Abswoude, D.H. van, Pellikaan, K., Nguyen, N., Rosenberg, A.G.W., Davidse, K., Hoekstra, F.M.E., Rood, I.M., Poitou, C., Grugni, G., Høybye, C., Markovic, T.P., Caixàs, A., Crinò, A., Berg, S.A. van den, Lely, A.J. van der, and Graaff, L.C.G. de

Abstract

Contains fulltext : 295919.pdf (Publisher’s version ) (Open Access), BACKGROUND: Prader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and hypothalamic dysfunction. Adults with PWS often have obesity, hypertension and type 2 diabetes mellitus (DM2), known risk factors for cardiovascular disease (CVD) and chronic kidney disease (CKD). Early symptoms of CVD and CKD may be masked by intellectual disability and inability to express physical complaints. Furthermore, kidney diseases are often asymptomatic. Therefore, renal and cardiovascular disease might be missed in patients with PWS. Microalbuminuria is an early sign of microvascular damage in the kidneys and other vascular beds. Therefore, we screened our adult PWS cohort for the presence of elevated urinary albumin and (micro)albuminuria. METHODS: We retrospectively collected anthropometric measurements, blood pressure, medical history, medication use, urine dipstick and biochemical measurements form electronic patient files. In addition, we performed a systematic literature review on kidney disease in PWS. RESULTS: We included 162 adults with genetically confirmed PWS (56% male, median age 28 years), of whom 44 (27%) had DM2. None had known CVD. All subjects had normal estimated glomerular filtration rate (eGFR) according to non-PWS reference intervals. Elevated urinary albumin or (micro)albuminuria was present in 28 (18%); 19 out of 75 (25%) had an increased urinary albumin-to-creatinine ratio (UACR) and 10 out of 57 (18%) had an increased urinary protein-to-creatinine ratio. Elevated urinary albumin was present at a young age (median age 26 (IQR 24-32) years) and was associated with an significantly higher BMI and LDL-cholesterol levels and higher prevalence of DM2, hypertension and dyslipidemia than those with normal UACR (p=0.027, p=0.019, p<0.001, p<0.001, p=0.011 and respectively). CONCLUSION: Upon screening, one in every five adults with PWS had increased urinary albumin or (mi

Published
2023

10. List of Contributors

Author

Aird, Ian A., primary, de Alwis, Nimantha M.W., additional, Anandhakrishnan, Ananthi, additional, Atkin, Stephen L., additional, Banerjee, Anindo, additional, Bareille, Philippe, additional, Barnard, Jordan, additional, Bashir, Ayat, additional, Becker, Frauke, additional, Brandon, Helene, additional, Campbell, Matthew D., additional, Clément, K., additional, Cohen-Tovée, Esther M., additional, Cornelissen, Piers L., additional, Day, Caroline, additional, Dubern, B., additional, Dyson, Pamela, additional, Gonzalez, Javier T., additional, Graham, Yitka, additional, Heiden, Emily, additional, Heslehurst, Nicola, additional, Hewitson, Lucy, additional, Hill, Sarah, additional, Hilton, Charlotte, additional, Hunter, Ann L., additional, Johnston, Lynne, additional, Jones, Susan E., additional, Korbonits, Marta, additional, Kyriacou, Angelos, additional, Lane, Claire, additional, Long, Helen, additional, Luppino, Floriana S., additional, Matei, Cristina G., additional, Meleady, Ray, additional, Oluboyede, Yemi, additional, Poitou, C., additional, Qamar, Unaiza, additional, Rutherford, Zoe H., additional, Sathyapalan, Thozhukat, additional, Slack, Emma, additional, Snowdon, Deborah, additional, Steven, Sarah, additional, Stonebanks, Grace, additional, Syed, Akheel A., additional, Tovée, Martin J., additional, Vijayaraman, Arutchelvam, additional, Weaver, Jolanta U., additional, Wickramasinghe, Manoj, additional, de Wit, Leonore M., additional, and Hyer, Stephen, additional

Published
2018
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16. Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

Author

Abswoude, D.H. van, Pellikaan, K., Rosenberg, A.G.W., Davidse, K., Coupaye, M., Høybye, C., Markovic, T.P., Grugni, G., Crinò, A., Caixàs, A., Poitou, C., Mosbah, H., Weir, T., Vlimmeren, L.A. van, Rutges, J., Klerk, L.W. de, Zillikens, M.C., Lely, A.J. van der, Graaff, L.C.G. de, Abswoude, D.H. van, Pellikaan, K., Rosenberg, A.G.W., Davidse, K., Coupaye, M., Høybye, C., Markovic, T.P., Grugni, G., Crinò, A., Caixàs, A., Poitou, C., Mosbah, H., Weir, T., Vlimmeren, L.A. van, Rutges, J., Klerk, L.W. de, Zillikens, M.C., Lely, A.J. van der, and Graaff, L.C.G. de

Abstract

Item does not contain fulltext, CONTEXT: Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity. OBJECTIVE: To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS. METHODS: We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature. RESULTS: We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below -2.5) and 143 (54%) had osteopenia (T-score -1 to -2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified. CONCLUSION: Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.

Published
2022

17. Modèle d’obésité d’apparition précoce : impact de la réduction précoce du poids sur l’espérance de vie et sur le risque de comorbidités chez un patient atteint d’obésité sévère et précoce

Author

Wiedemann, U.C., Van Den Akker, E., Barber, T.M., Clément, K., Farooqi, S., Goldstone, A.P., Marcus, C., Aznar, L.A. Moreno, Poitou, C., Schorfheide, J.L., Touchot, N., Wabitsch, M., and Kuhnen, P.

Abstract

Il existe peu de recherches sur l’impact de l’obésité précoce sur la mortalité et les comorbidités. Nous avons développé un modèle qualitatif et quantitatif qui permet d’estimer l’impact de la perte de poids précoce sur l’espérance de vie et les comorbidités cardiovasculaires.

Published
2024
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18. Résultats pondéraux et métaboliques à 5 ans d’une chirurgie bariatrique chez des sujets présentant une obésité hypothalamique secondaire à un craniopharyngiome : une étude cas-contrôle du réseau FORCE

Author

Faucher, P., primary, Carette, C., additional, Jannot, A.-S., additional, Gatta-Cherifi, B., additional, Van Straaten, A., additional, Piquet, M.-A., additional, Raverot, G., additional, Alligier, M., additional, Batisse, T., additional, Ziegler, O., additional, Drui, D., additional, Bretault, M., additional, Farigon, N., additional, Karem, S., additional, Genser, L., additional, Poghosyan, T., additional, Vychnevskaia, K., additional, Blanchard, C., additional, Robert, M., additional, Gronnier, C., additional, Leroux, Y., additional, Poitou, C., additional, and Czernichow, S., additional

Published
2022
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19. Combinatorial, additive and dose-dependent drug-microbiome associations

Author

Forslund, SK, Chakaroun, R, Zimmermann-Kogadeeva, M, Markó, L, Aron-Wisnewsky, J, Nielsen, T, Moitinho-Silva, L, Schmidt, TSB, Falony, G, Vieira-Silva, S, Adriouch, S, Alves, RJ, Assmann, K, Bastard, J-P, Birkner, T, Caesar, R, Chilloux, J, Coelho, LP, Fezeu, L, Galleron, N, Helft, G, Isnard, R, Ji, B, Kuhn, M, Le Chatelier, E, Myridakis, A, Olsson, L, Pons, N, Prifti, E, Quinquis, B, Roume, H, Salem, J-E, Sokolovska, N, Tremaroli, V, Valles-Colomer, M, Lewinter, C, Søndertoft, NB, Pedersen, HK, Hansen, TH, Amouyal, C, Andersson Galijatovic, EA, Andreelli, F, Barthelemy, O, Batisse, J-P, Belda, E, Berland, M, Bittar, R, Blottière, H, Bosquet, F, Boubrit, R, Bourron, O, Camus, M, Cassuto, D, Ciangura, C, Collet, J-P, Dao, M-C, Djebbar, M, Doré, A, Engelbrechtsen, L, Fellahi, S, Fromentin, S, Galan, P, Gauguier, D, Giral, P, Hartemann, A, Hartmann, B, Holst, JJ, Hornbak, M, Hoyles, L, Hulot, J-S, Jaqueminet, S, Jørgensen, NR, Julienne, H, Justesen, J, Kammer, J, Krarup, N, Kerneis, M, Khemis, J, Kozlowski, R, Lejard, V, Levenez, F, Lucas-Martini, L, Massey, R, Martinez-Gili, L, Maziers, N, Medina-Stamminger, J, Montalescot, G, Moute, S, Neves, AL, Olanipekun, M, Le Pavin, LP, Poitou, C, Pousset, F, Pouzoulet, L, Rodriguez-Martinez, A, Rouault, C, Silvain, J, Svendstrup, M, Swartz, T, Vanduyvenboden, T, Vatier, C, Walther, S, Gøtze, JP, Køber, L, Vestergaard, H, Hansen, T, Zucker, J-D, Hercberg, S, Oppert, J-M, Letunic, I, Nielsen, J, Bäckhed, F, Ehrlich, SD, Dumas, M-E, Raes, J, Pedersen, O, Clément, K, Stumvoll, M, Bork, P, The MetaCardis Consortium (Hoyles, L.), European Molecular Biology Laboratory [Heidelberg] (EMBL), Max Delbrück Center for Molecular Medicine [Berlin] (MDC), Helmholtz-Gemeinschaft = Helmholtz Association, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Berlin Institute of Health (BIH), German Center for Cardiovascular Research (DZHK), Universität Leipzig, Nutrition et obésités: approches systémiques (UMR-S 1269) (Nutriomics), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Copenhagen = Københavns Universitet (UCPH), University of New South Wales [Sydney] (UNSW), Paul Scherrer Institute (PSI), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Heidelberg University, Equipe 3: EREN- Equipe de Recherche en Epidémiologie Nutritionnelle (CRESS - U1153), Université Sorbonne Paris Nord-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Henri Mondor [Créteil], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], University of Gothenburg (GU), Imperial College London, MetaGenoPolis (MGP (US 1367)), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Paris-Saclay, Institut de cardiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Chalmers University of Technology [Gothenburg, Sweden], Unité de modélisation mathématique et informatique des systèmes complexes [Bondy] (UMMISCO), Université de Yaoundé I-Institut de la francophonie pour l'informatique-Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Université Gaston Bergé (Saint-Louis, Sénégal)-Université Cadi Ayyad [Marrakech] (UCA)-Sorbonne Université (SU)-Institut de Recherche pour le Développement (IRD [France-Nord]), Centre d'investigation clinique Paris Est [CHU Pitié Salpêtrière] (CIC Paris-Est), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Biobyte Solutions [Heidelberg, Germany] (BS), IT University of Copenhagen (ITU), Sahlgrenska University Hospital [Gothenburg], Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (EGENODIA (GI3M)), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), National Heart and Lung Institute [London] (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, McGill University and Genome Quebec Innovation Centre, Helmholtz Institute Ulm (HIU), Helmholtz Zentrum München = German Research Center for Environmental Health, University of Würzburg = Universität Würzburg, Yonsei University, MetaCardis Consortium*: Chloe Amouyal, Ehm Astrid Andersson Galijatovic, Fabrizio Andreelli, Olivier Barthelemy, Jean-Paul Batisse, Eugeni Belda, Magalie Berland, Randa Bittar, Hervé Blottière, Frederic Bosquet, Rachid Boubrit, Olivier Bourron, Mickael Camus, Dominique Cassuto, Cecile Ciangura, Jean-Philippe Collet, Maria-Carlota Dao, Morad Djebbar, Angélique Doré, Line Engelbrechtsen, Soraya Fellahi, Sebastien Fromentin, Pilar Galan, Dominique Gauguier, Philippe Giral, Agnes Hartemann, Bolette Hartmann, Jens Juul Holst, Malene Hornbak, Lesley Hoyles, Jean-Sebastien Hulot, Sophie Jaqueminet, Niklas Rye Jørgensen, Hanna Julienne, Johanne Justesen, Judith Kammer, Nikolaj Krarup, Mathieu Kerneis, Jean Khemis, Ruby Kozlowski, Véronique Lejard, Florence Levenez, Lea Lucas-Martini, Robin Massey, Laura Martinez-Gili, Nicolas Maziers, Jonathan Medina-Stamminger, Gilles Montalescot, Sandrine Moute, Ana Luisa Neves, Michael Olanipekun, Laetitia Pasero Le Pavin, Christine Poitou, Francoise Pousset, Laurence Pouzoulet, Andrea Rodriguez-Martinez, Christine Rouault, Johanne Silvain, Mathilde Svendstrup, Timothy Swartz, Thierry Vanduyvenboden, Camille Vatier, Stefanie Walther., ANR-16-IDEX-0004,ULNE,ULNE(2016), ANR-18-IBHU-0001,PreciDIAB,PreciDIAB Institute, the holistic approach of personal diabets care(2018), Dumas, Marc-Emmanuel, Universität Leipzig [Leipzig], Service de Nutrition [CHU Pitié-Salpétrière], Institut E3M [CHU Pitié-Salpêtrière], CHU Henri Mondor, Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-1901(ex CIC-1421)), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Imperial College London - National Heart and Lung Institute, and Division of Computational and Systems Medicine, Imperial College London, London, SW7 2AZ, UK

Subjects
Clostridiales, Science & Technology, Multidisciplinary, ANTIBIOTIC USE, IMPACT, Microbiota, [SDV]Life Sciences [q-bio], HUMAN GUT MICROBIOME, Atherosclerosis, Gastrointestinal Microbiome, [SDV] Life Sciences [q-bio], Multidisciplinary Sciences, PROTON PUMP INHIBITORS, Cardiovascular and Metabolic Diseases, GUIDELINE, Metabolome, MANAGEMENT, Humans, Science & Technology - Other Topics, ALTERS
Abstract

During the transition from a healthy state to cardiometabolic disease, patients become heavily medicated, which leads to an increasingly aberrant gut microbiome and serum metabolome, and complicates biomarker discovery1-5. Here, through integrated multi-omics analyses of 2,173 European residents from the MetaCardis cohort, we show that the explanatory power of drugs for the variability in both host and gut microbiome features exceeds that of disease. We quantify inferred effects of single medications, their combinations as well as additive effects, and show that the latter shift the metabolome and microbiome towards a healthier state, exemplified in synergistic reduction in serum atherogenic lipoproteins by statins combined with aspirin, or enrichment of intestinal Roseburia by diuretic agents combined with beta-blockers. Several antibiotics exhibit a quantitative relationship between the number of courses prescribed and progression towards a microbiome state that is associated with the severity of cardiometabolic disease. We also report a relationship between cardiometabolic drug dosage, improvement in clinical markers and microbiome composition, supporting direct drug effects. Taken together, our computational framework and resulting resources enable the disentanglement of the effects of drugs and disease on host and microbiome features in multimedicated individuals. Furthermore, the robust signatures identified using our framework provide new hypotheses for drug-host-microbiome interactions in cardiometabolic disease. ispartof: NATURE vol:600 issue:7889 pages:500-+ ispartof: location:England status: published

Published
2021

21. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials

Author

Argente J, Gonneau-Lejeune J, Wabitsch M, Poitou C, Connors H, Swain J, Stewart M, Kohlsdorf K, Chung Wk, Lia Puder, Yuan G, Clement K, van den Akker E, Farooqi Is, Peter Kühnen, Gordon G, De Waele K, and Bahm A

Subjects
Agonist, Setmelanotide, medicine.medical_specialty, Endocrinology, business.industry, POMC Deficiency, medicine.drug_class, Internal medicine, medicine, Open label, Severe obesity, business
Published
2021

23. Indications thérapeutiques et effets métaboliques de la métréleptine chez les patients atteints de lipodystrophie : données de vie réelle du registre français

Author

Mosbah, H., primary, Vantyghem, M.C., additional, Guilleux, A., additional, Andreelli, F., additional, Archambeaud, F., additional, Bismuth, E., additional, Briet, C., additional, Cartigny, M., additional, DaguenelNguyen, A., additional, Donadille, B., additional, Fichet, M., additional, Gautier, J.F., additional, Janmaat, S., additional, Jéru, I., additional, Legagneur, C., additional, Maitre, J., additional, Mongeois, E., additional, Nobécourt, E., additional, Poitou, C., additional, Renard, E., additional, Reznik, Y., additional, Spiteri, A., additional, Travert, F., additional, Vergès, B., additional, Zammouri, J., additional, Vigouroux, C., additional, and Vatier, C., additional

Published
2021
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30. Modèle d’obésité d’apparition précoce : impact de l’obésité précoce sur l’espérance de vie et le risque de comorbidités

Author

Wiedemann, U.C., Van Den Akker, Pr E., Barber, T.M., Clément, K., Farooqi, S., Goldstone, A.P., Marcus, C., Aznar, L.A. Moreno, Poitou, C., Schorfheide, J.L., Touchot, N., Wabitsch, M., and Kuhnen, P.

Abstract

L’obésité précoce a un impact sur les comorbidités et la mortalité. Un modèle a été développé pour qualifier et quantifier cet impact spécifiquement sur la santé cardiovasculaire et les maladies associées.

Published
2024
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32. Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome

Author

Rosenberg, A.G.W. (Anna G W), Pellikaan, K. (Karlijn), Poitou, C. (Christine), Goldstone, A.P. (Anthony P.), Hoÿbye, C. (Charlotte), Markovic, T. (Tania), Grugni, G. (Graziano), Crinò, A. (Antonino), Caixàs, A. (Assumpta), Coupaye, M. (Muriel), Berg, S.A.A. (Sjoerd) van den, Lely, A-J. (Aart-Jan) van der, Graaff, L.C.G. (Laura) de, Rosenberg, A.G.W. (Anna G W), Pellikaan, K. (Karlijn), Poitou, C. (Christine), Goldstone, A.P. (Anthony P.), Hoÿbye, C. (Charlotte), Markovic, T. (Tania), Grugni, G. (Graziano), Crinò, A. (Antonino), Caixàs, A. (Assumpta), Coupaye, M. (Muriel), Berg, S.A.A. (Sjoerd) van den, Lely, A-J. (Aart-Jan) van der, and Graaff, L.C.G. (Laura) de

Abstract

CONTEXT: Prader-Willi syndrome (PWS) is associated with several hypothalamic-pituitary hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. In some countries, it is general practice to prescribe stress-dose hydrocortisone during physical or psychological stress in patients with PWS. Side effects of frequent hydrocortisone use are weight gain, osteoporosis, diabetes mellitus, and hypertension-already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity-or even mortality. OBJECTIVE: To prevent both over- and undertreatment with hydrocortisone, we assessed the prevalence of CAI in a large international cohort of adults with PWS. As the synacthen test shows variable results in PWS, we only use the metyrapone test (MTP) and insulin tolerance test (ITT). DESIGN: Metyrapone test or ITT in adults with PWS (N = 82) and review of medical files for symptoms of hypocortisolism related to surgery (N = 645). SETTING: Outpatient clinic. PATIENTS OR OTHER PARTICIPANTS: Eighty-two adults with genetically confirmed PWS. MAIN OUTCOME MEASURE: For MTP, 11-deoxycortisol > 230 nmol/L was considered sufficient. For ITT, cortisol > 500 nmol/L (Dutch, French, and Swedish patients) or > 450 nmol/L (British patients) was considered sufficient. RESULTS: Central adrenal insufficiency was excluded in 81 of 82 patients. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative hydrocortisone treatment. None of them had displayed any features of hypocortisolism. CONCLUSIONS: Central adrenal insufficiency is rare (1.2%) in adults with PWS. Based on these results, we recommend against routinely prescribing hydrocortisone stress-doses in adults with PWS.

Published
2020
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