A C Paepegaey
A C Paepegaey
Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France
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M Coupaye
M Coupaye
Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France
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A Jaziri
A Jaziri
Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France
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F Ménesguen
F Ménesguen
Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France
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B Dubern
B Dubern
Nutrition and Gastroenterology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Armand Trousseau Children’s Hospital, Paris, France
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M Polak
M Polak
Pediatric Endocrinology, Diabetology and Gynecology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Necker Enfants Malades Hospital University Hospital, Paris, France
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J M Oppert
J M Oppert
Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France
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M Tauber
M Tauber
Pediatric Endocrinology Department, Children’s Hospital, French Reference Center for Prader-Willi Syndrome, Toulouse, France
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G Pinto
G Pinto
Pediatric Endocrinology, Diabetology and Gynecology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Necker Enfants Malades Hospital University Hospital, Paris, France
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C Poitou
C Poitou
Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France
INSERM, UMRS 1166, Nutriomic Group 6, Paris, France
Sorbonne Université, UMRS1166, Paris, France
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INSERM, UMRS 1166, Nutriomic Group 6, Paris, France
Sorbonne Université, UMRS1166, Paris, France
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Introduction Prader–Willi syndrome (PWS) is a complex developmental genetic disorder including obesity with hyperphagia, psychiatric disturbances, endocrine and metabolic disorders ( 1 , 2 ). Global incidence has been recently evaluated as 1
M Guftar Shaikh
M Guftar Shaikh
Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
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Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
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Timothy G Barrett
Timothy G Barrett
Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
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Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
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Nicola Bridges
Nicola Bridges
Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK
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Robin Chung
Robin Chung
Research Working Group, Prader-Willi Syndrome Association, Northampton, UK
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Evelien F Gevers
Evelien F Gevers
Department of Paediatric Endocrinology, Barts Health NHS Trust, Royal London Hospital, London, UK
Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK
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Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK
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Anthony P Goldstone
Anthony P Goldstone
PsychoNeuroEndocrinologyResearch Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK
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Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK
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Anthony Holland
Anthony Holland
Department of Psychiatry, University of Cambridge, Cambridge, UK
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Shankar Kanumakala
Shankar Kanumakala
Royal Alexandra Children’s Hospital, Brighton, UK
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Ruth Krone
Ruth Krone
Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK
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Andreas Kyriakou
Andreas Kyriakou
Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus
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Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus
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E Anne Livesey
E Anne Livesey
Royal Alexandra Children’s Hospital, Brighton, UK
Sussex Community NHS Trust, Brighton, UK
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Sussex Community NHS Trust, Brighton, UK
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Angela K Lucas-Herald
Angela K Lucas-Herald
Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
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Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
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Christina Meade
Christina Meade
CHI at Tallaght University Hospital, Dublin, Republic of Ireland
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Susan Passmore
Susan Passmore
Prader-Willi Syndrome Association, Northampton, UK
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Edna Roche
Edna Roche
CHI at Tallaght University Hospital, Dublin, Republic of Ireland
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland
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The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland
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Chris Smith
Chris Smith
Royal Alexandra Children’s Hospital, Brighton, UK
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Sarita Soni
Sarita Soni
Learning Disability Psychiatry, NHS Greater Glasgow and Clyde, Glasgow, UK
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Introduction Prader–Willi syndrome (PWS) is a rare complex genetic disorder arising from the lack of expression of the paternally inherited imprinted genes on chromosome 15q11-q13. The most common causes are paternal deletion (65–70%) and
Devis Pascut
Devis Pascut
Fondazione Italiana Fegato – ONLUS, Trieste, Italy
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Sofia Tamini
Sofia Tamini
Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
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Silvia Bresolin
Silvia Bresolin
Laboratory of Onco-Hematology, Department of Women’s and Children’s Health, University of Padova, Padova, Italy
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Pablo Giraudi
Pablo Giraudi
Fondazione Italiana Fegato – ONLUS, Trieste, Italy
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Giuseppe Basso
Giuseppe Basso
Laboratory of Onco-Hematology, Department of Women’s and Children’s Health, University of Padova, Padova, Italy
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Alessandro Minocci
Alessandro Minocci
Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
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Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
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Claudio Tiribelli
Claudio Tiribelli
Fondazione Italiana Fegato – ONLUS, Trieste, Italy
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Graziano Grugni
Graziano Grugni
Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
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Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
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Alessandro Sartorio
Alessandro Sartorio
Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
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Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
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Introduction Prader–Willi syndrome (PWS) is a complex multisystem disorder due to the lack of expression of genes located on the paternal chromosome 15q11.2-q13. Together with Angelman syndrome, a totally different clinical condition, PWS is
H Vlaardingerbroek
H Vlaardingerbroek
Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands
Willem-Alexander Children’s Hospital, Department of Pediatrics, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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Willem-Alexander Children’s Hospital, Department of Pediatrics, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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E L T van den Akker
E L T van den Akker
Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands
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A C S Hokken-Koelega
A C S Hokken-Koelega
Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands
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-melanotropin; β-MSH, β-melanotropin. The aim of this review is to present data on the extreme ends of the obesity spectrum in patients with Prader–Willi syndrome (PWS), Bardet–Biedl syndrome (BBS), acquired hypothalamic obesity in craniopharyngioma
Sakina Kherra
Sakina Kherra
CHU Parnet Hopital, Algiers, Algeria
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Wendy Forsyth Paterson
Wendy Forsyth Paterson
Royal Hospital for Sick Children, Yorkhill, Glasgow, UK
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Filiz Mine Cizmecioglu
Filiz Mine Cizmecioglu
Paediatric Endocrinology and Diabetes Department, Kocaeli University, Kocaeli, Turkey
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Jeremy Huw Jones
Jeremy Huw Jones
Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK
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Mariam Kourime
Mariam Kourime
Abderrahim Harouchi Hôpital, Casablanca, Morocco
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Heba Hassan Elsedfy
Heba Hassan Elsedfy
Pediatrics Department, Ain Shams University, Cairo, Egypt
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Sameh Tawfik
Sameh Tawfik
Department of Pediatrics, Maadi Hospital, Cairo, Egypt
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Andreas Kyriakou
Andreas Kyriakou
Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK
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Mohamad Guftar Shaikh
Mohamad Guftar Shaikh
Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK
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Malcolm David Cairns Donaldson
Malcolm David Cairns Donaldson
Section of Child Health, Glasgow University School of Medicine, Glasgow, UK
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Introduction The Prader–Willi syndrome (PWS) results from the absence of paternally imprinted genes in the 15q 11–13 region, caused by a deletion in the paternal chromosome (del15q) in 70% of cases and disomy of the maternal chromosome (mUPD15
Christine Poitou
Christine Poitou
Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France
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Anthony Holland
Anthony Holland
Department of Psychiatry, University of Cambridge, UK
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Charlotte Höybye
Charlotte Höybye
Department of Endocrinology and Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
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Laura C G de Graaff
Laura C G de Graaff
Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Sandrine Bottius
Sandrine Bottius
Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France
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Berit Otterlei
Berit Otterlei
Landsforeningen for Prader-Willis Syndrom Hiltonåsen, Slependen, Norway
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Maithé Tauber
Maithé Tauber
Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service d’Endocrinologie, Obésités, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, Toulouse, France
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Introduction Prader–Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder including obesity consequent upon hyperphagia, psychiatric disturbances, endocrine and metabolic disorders ( 2 ). Global incidence is approximately 1 in
Régis Coutant
Régis Coutant
Department of Pediatric Endocrinology and Diabetology, Reference Center for Rare Pituiatry Diseases, University Hospital of Angers, Angers, France
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Maithé Tauber
Maithé Tauber
Reference Center for the Prader-Willi syndrome and other rare obesities with feeding disorders (PRADORT), Children Hospital, CHU Toulouse, Toulouse, France
Pediatric team of the Clinical Investigation Center 9302/INSERM, Hospital of Children, Toulouse, France
Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), INSERM UMR1291 - CNRS UMR5051 - Université Toulouse III, Toulouse, France
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Pediatric team of the Clinical Investigation Center 9302/INSERM, Hospital of Children, Toulouse, France
Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), INSERM UMR1291 - CNRS UMR5051 - Université Toulouse III, Toulouse, France
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Béatrice Demaret
Béatrice Demaret
GRANDIR - French Growth Disorders Association, Asnières-sur-Seine, France
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Robin Henocque
Robin Henocque
Pfizer France, Paris France
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Yves Brault
Yves Brault
Pfizer France, Paris France
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François Montestruc
François Montestruc
eXYSTAT, Malakoff, France
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Olivier Chassany
Olivier Chassany
Health Economics Clinical Trial Unit (URC-ECO), Hospital of Hotel-Dieu, AP-HP, Paris, France
Patient-Reported Outcomes Unit (PROQOL), UMR 1123, University Paris Cité, INSERM, Paris, France
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Patient-Reported Outcomes Unit (PROQOL), UMR 1123, University Paris Cité, INSERM, Paris, France
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Michel Polak
Michel Polak
Hôpital Universitaire Necker Enfants Malades, Pediatric Endocrinology, Gynecology and Diabetology, Imagine Institute, INSERM U1163, Cochin Institute, INSERM U1016, Centre de référence des pathologies endocriniennes rares de la croissance et du développement, Université de Paris Cité, Paris, France
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the QOLITHOR Study Group
the QOLITHOR Study Group
the QOLITHOR Study Group
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insufficiency as part of multiple pituitary hormone deficiencies as well as other conditions (small for gestational age (SGA), Prader–Willi syndrome (PWS), Turner syndrome, or chronic renal failure). Pediatric patients on hormonal replacement therapy for other
Anita Hokken-Koelega
Anita Hokken-Koelega
Erasmus University Medical Centre, Rotterdam, The Netherlands
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Aart-Jan van der Lely
Aart-Jan van der Lely
Erasmus University Medical Centre, Rotterdam, The Netherlands
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Berthold Hauffa
Berthold Hauffa
University Children’s Hospital, Essen, Germany
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Gabriele Häusler
Gabriele Häusler
Medical University and General Hospital of Vienna, Vienna, Austria
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Gudmundur Johannsson
Gudmundur Johannsson
Sahlgrenska University Hospital, Göteborg, Sweden
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Mohamad Maghnie
Mohamad Maghnie
Istituto Giannina Gaslini, University of Genova, Genova, Italy
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Jesús Argente
Jesús Argente
Hospital Infantil Universitario Niño Jesús, Madrid, Spain
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Jean DeSchepper
Jean DeSchepper
University Hospital Brussels, Brussels, Belgium
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Helena Gleeson
Helena Gleeson
Queen Elizabeth Hospital, Birmingham, UK
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John W Gregory
John W Gregory
Cardiff University School of Medicine, Cardiff, UK
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Charlotte Höybye
Charlotte Höybye
Department of Molecular Medicine and Surgery, Karolinska Institute and Department of Endocrinology, Metabolism and Diabetology, Karolinska University Hospital, Stockholm, Sweden
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Fahrettin Keleştimur
Fahrettin Keleştimur
Department of Endocrinology, School of Medicine, Erciyes University, Kayseri, Turkey
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Anton Luger
Anton Luger
Sahlgrenska University Hospital, Göteborg, Sweden
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Hermann L Müller
Hermann L Müller
Department of Pediatrics, Klinikum Oldenburg, Medical Campus University Oldenburg, Oldenburg, Germany
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Sebastian Neggers
Sebastian Neggers
University Children’s Hospital, Essen, Germany
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Vera Popovic-Brkic
Vera Popovic-Brkic
Belgrade University School of Medicine, Belgrade, Serbia
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Eleonora Porcu
Eleonora Porcu
University of Bologna, Bologna, Italy
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Lars Sävendahl
Lars Sävendahl
Department of Women’s and Children’s Health, Karolinska Institutet, and Pediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden
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Stephen Shalet
Stephen Shalet
The Christie Hospital, Manchester, UK
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Bessie Spiliotis
Bessie Spiliotis
University of Patras School of Medicine, Patras, Greece
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Maithé Tauber
Maithé Tauber
Hôpital des Enfants, Toulouse, France
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deficiency (CO-GHD), those born small for gestational age (SGA), girls with Turner syndrome (TS), patients with Prader–Willi syndrome (PWS), and survivors of cancers treated during childhood was addressed and, specifically, the role for GH therapy in patients
Lukas Plachy
Lukas Plachy
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Petruzelkova
Lenka Petruzelkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Klara Maratova
Klara Maratova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Dana Zemkova
Dana Zemkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Elblova
Lenka Elblova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Vit Neuman
Vit Neuman
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Marta Snajderova
Marta Snajderova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Jan Lebl
Jan Lebl
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Turner syndrome, Prader-Willi syndrome, and those with secondary causes of their short stature (e.g. chronic renal insufficiency and secondary GH deficiency due to intracranial tumor and/or irradiation), 528 children remained for further evaluation
Metin Guclu
Metin Guclu
Health Sciences University, Bursa Yuksek Ihtisas Education and Training Hospital, Department of Endocrinology and Metabolism, Bursa, Turkey
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Sinem Kiyici
Sinem Kiyici
Health Sciences University, Bursa Yuksek Ihtisas Education and Training Hospital, Department of Endocrinology and Metabolism, Bursa, Turkey
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Zulfiye Gul
Zulfiye Gul
Department of Pharmacology, Uludag University Medical Faculty, Bursa, Turkey
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Sinan Cavun
Sinan Cavun
Department of Pharmacology, Uludag University Medical Faculty, Bursa, Turkey
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also remained low for up to 8 h following exenatide administration. Prader–Willi syndrome (PWS) is associated with hyperphagia and obesity. Patients with PWS have high circulating ghrelin levels that do not decrease postprandially ( 23 ). There are
