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Andre Madsen Hormone Laboratory, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglaede Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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without cryptorchidism . Acta Paediatrica 2011 100 839 – 845 . ( https://doi.org/10.1111/j.1651-2227.2011.02148.x ) 31 Rey R . Endocrine, paracrine and celluar regulation of postnatal anti-Müllerian hormone secretion by Sertoli cells . Trends in

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Yi Wang Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yingying Xu Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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Rongrong Xie Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Bingyan Cao Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yuan Ding Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Jiayun Guo Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaoqiao Li Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaolin Ni Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Zheng Yuan Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Linqi Chen Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Liyang Liang Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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Chunxiu Gong Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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for diabetes insipidus. Case 3 involved a 12-year-old boy with bilateral cryptorchidism, who exhibited no signs of puberty and was diagnosed with hypogonadotropic hypogonadism. The IGF-1 levels of seven patients (cases 3, 7, 10, 12, 13, 14, and 16

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Rossella Cannarella Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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Andrea Crafa Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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Sandro La Vignera Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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Rosita A Condorelli Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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Aldo E Calogero Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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presence of micropenis in these patients ( 19 , 24 , 25 , 26 , 27 , 28 , 29 ). As regards the presence of genitourinary malformations, subcoronal hypospadias ( 19 ) and few cases of cryptorchidism have been described ( 22 , 27 , 30 ). The

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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 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 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 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 Nutrition and Gastroenterology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Armand Trousseau Children’s Hospital, Paris, France

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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 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 Pediatric Endocrinology Department, Children’s Hospital, French Reference Center for Prader-Willi Syndrome, Toulouse, France

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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 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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in children, cognitive disabilities and psychiatric features ( 3 ). The most frequent endocrine involvement includes hypogonadism with cryptorchidism in 80% of cases and primary amenorrhea in 56% of cases ( 2 ). Growth hormone (GH) deficiency is

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M Axelstad Technical University of Denmark, National Food Institute, Kongens Lyngby, Denmark

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U Hass Technical University of Denmark, National Food Institute, Kongens Lyngby, Denmark

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M Scholze Brunel University, Uxbridge, UK

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S Christiansen Technical University of Denmark, National Food Institute, Kongens Lyngby, Denmark

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A Kortenkamp Brunel University, Uxbridge, UK

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J Boberg Technical University of Denmark, National Food Institute, Kongens Lyngby, Denmark

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common developmental origins: hypospadias, cryptorchidism and short anogenital distance in boys, and low sperm quality and high testis cancer risk in adult men ( 3 ). In the adult organism, functional hormonal feedback regulation ensures that appropriate

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Hans Valdemar López Krabbe Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Jørgen Holm Petersen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Section of Biostatistics, University of Copenhagen, Copenhagen, Denmark

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Louise Laub Asserhøj Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Fertility, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

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Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Peter Christiansen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Rikke Beck Jensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Line Hartvig Cleemann Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Casper P Hagen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Lærke Priskorn Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Niels Jørgensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Katharina M Main Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglaede Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Kaleva M Main KM Virtanen HE Haavisto AM Schmidt IM Chellakooty M Damgaard IN Mau C Reunanen M , et al . Difference in prevalence of congenital cryptorchidism in infants between two Nordic countries . Lancet 2004 363 1264 – 1269

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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programming window for reproductive tract masculinization, disruption of which leads to hypospadias and cryptorchidism . Journal of Clinical Investigation 2008 118 1479 – 1490 . ( https://doi.org/10.1172/JCI34241 ) 17 Schwanzel-Fukada M & Pfaff DW

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Alexander A L Jorge Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil

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Thomas Edouard Endocrine, Bone Diseases, and Genetics Unit, Children’s Hospital, Toulouse University Hospital, RESTORE INSERM UMR1301, Toulouse, France

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Mohamad Maghnie Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy

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Alberto Pietropoli Novo Nordisk Health Care AG, Global Medical Affairs Biopharm, Zürich, Switzerland

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Nicky Kelepouris Novo Nordisk Inc., Clinical, Medical and Regulatory Biopharm-RED, Plainsboro, New Jersey, USA

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Alicia Romano Department of Pediatrics, New York Medical College, Valhalla, New York, USA

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Martin Zenker Institute of Human Genetics & Department of Pediatrics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany

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Reiko Horikawa Department of Endocrine and Metabolism, National Center for Child Health and Development, Tokyo, Japan

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Introduction Noonan syndrome (NS) is a genetically heterogenous disorder characterized by various clinical features including cardiovascular abnormalities, short stature, distinctive facial features, skeletal anomalies, cryptorchidism in boys

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Rebeca Esquivel-Zuniga Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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remains the strongest discriminator between isolated DP and hypogonadotropic hypogonadism. These include microorchidism, cryptorchidism or micropenis, indicating a lack of prior ‘mini-puberty’ or the presence of other features of GnRH deficiency, which

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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 Department of Psychiatry, University of Cambridge, UK

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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 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 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 Landsforeningen for Prader-Willis Syndrom Hiltonåsen, Slependen, Norway

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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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prevented  Growth hormone deficiency almost 100% in children and 50% in adults, SGA in 20%  Hypogonadism mixed > 60% (adult > 90%)  Cryptorchidism more than 90%  Premature or agressive adrenarche 30%  Hypothyroïdism 20

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