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Mireille N M van Poppel
Mireille N M van Poppel
Institute of Human Movement Sciences, Sport and Health, University of Graz, Graz, Austria
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Christopher J Nolan
Christopher J Nolan
Department of Endocrinology at The Canberra Hospital and the Australian National University School of Medicine and Psychology, Canberra, ACT, Australia
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Gernot Desoye
Gernot Desoye
Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria
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identified, including in GATA6 , PDX1 , and PTF1A ( 1 , 2 , 3 ). In cases of complete PA, insulin, a major fetal growth regulator, and C-peptide concentrations are usually below the limit of detection in cord blood. The importance of insulin and other
Wolfgang Högler
Wolfgang Högler
Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
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Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
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Agnès Linglart
Agnès Linglart
AP-HP, Hôpital Bicêtre Paris Saclay, service d’endocrinologie et diabète de l’enfant, DMU 3 SEA, centre de référence des maladies rares du métabolisme du calcium et du phosphate, filière OSCAR; Université de Paris-Saclay INSERM U1185, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
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Anna Petryk
Anna Petryk
Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA
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Priya S Kishnani
Priya S Kishnani
Duke University Medical Center, Durham, North Carolina, USA
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Lothar Seefried
Lothar Seefried
University of Würzburg, Würzburg, Germany
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Shona Fang
Shona Fang
Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA
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Cheryl Rockman-Greenberg
Cheryl Rockman-Greenberg
University of Manitoba, Winnipeg, Manitoba, Canada
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Keiichi Ozono
Keiichi Ozono
Osaka University, Suita, Osaka, Japan
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Kathryn Dahir
Kathryn Dahir
Vanderbilt University Medical Center, Nashville, Tennessee, USA
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Gabriel Ángel Martos-Moreno
Gabriel Ángel Martos-Moreno
Departments of Pediatrics and Pediatric Endocrinology Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain
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) with skeletal and nonskeletal symptoms that may negatively affect growth ( 2 , 3 ). A natural history study of longitudinal data collected from 101 patients over the course of 25 years at a single center in the United States showed that children with
Rebeca Esquivel-Zuniga
Rebeca Esquivel-Zuniga
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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) is broad ( Table 1 ). The most common etiology is constitutional delay of growth and puberty (CDGP), a non-pathological state in which the maturation of the HPG axis is delayed and pubertal maturation begins at an age at the extreme end of normal
Danielle Christine Maria van der Kaay
Danielle Christine Maria van der Kaay
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Anne Rochtus
Anne Rochtus
Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium
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Gerhard Binder
Gerhard Binder
University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany
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Ingo Kurth
Ingo Kurth
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Dirk Prawitt
Dirk Prawitt
Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany
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Irène Netchine
Irène Netchine
Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
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Gudmundur Johannsson
Gudmundur Johannsson
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Anita C S Hokken-Koelega
Anita C S Hokken-Koelega
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Miriam Elbracht
Miriam Elbracht
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Thomas Eggermann
Thomas Eggermann
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Introduction Human growth is a complex physiological process, driven by the orchestrated expression of multiple genes and systems to control cell proliferation, cell hypertrophy, and extracellular matrix production, and be responsible for
Alexander A L Jorge
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
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
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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Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
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Alberto Pietropoli
Alberto Pietropoli
Novo Nordisk Health Care AG, Global Medical Affairs Biopharm, Zürich, Switzerland
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Nicky Kelepouris
Nicky Kelepouris
Novo Nordisk Inc., Clinical, Medical and Regulatory Biopharm-RED, Plainsboro, New Jersey, USA
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Alicia Romano
Alicia Romano
Department of Pediatrics, New York Medical College, Valhalla, New York, USA
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Martin Zenker
Martin Zenker
Institute of Human Genetics & Department of Pediatrics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany
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Reiko Horikawa
Reiko Horikawa
Department of Endocrine and Metabolism, National Center for Child Health and Development, Tokyo, Japan
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typically have a birth weight and length within the normal range, patients often suffer postnatal growth failure within the first years of life, and approximately 60–70% of children with NS are subsequently affected by short stature ( 1 , 8 , 9 , 10 ). In
Alexandra Kiess
Alexandra Kiess
Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany
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Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany
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Jessica Green
Jessica Green
Alder Hey Children's NHS Foundation Trust, Pediatric Intensive Care Unit, Eaton Road Liverpool, Great Britain
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Anja Willenberg
Anja Willenberg
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Uta Ceglarek
Uta Ceglarek
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Ingo Dähnert
Ingo Dähnert
Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
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Wieland Kiess
Wieland Kiess
LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Mandy Vogel
Mandy Vogel
LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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as a response to atrial stretch ( 2 ). While it is known that cardiac muscle mass increases from birth to adolescence with a less rapid growth rate than body size ( 3 ), the influence of growth hormone factors on cardiac marker levels during normal
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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Introduction Growth hormone deficiency (GHD) results in abnormal linear growth in children ( 1 , 2 ), associated with potential early severe morbidity (psychosocial problems and episodes of hypoglycemia). In addition, persistency of GHD into
Patrizia Bruzzi
Patrizia Bruzzi
Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena & Reggio Emilia, Paediatric Unit, Modena, Italy
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Silvia Vannelli
Silvia Vannelli
Pediatric Endocrinologic Unit, Regina Margherita Children’s Hospital, Turin, Italy
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Emanuela Scarano
Emanuela Scarano
Unit of Pediatrics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy
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Natascia Di Iorgi
Natascia Di Iorgi
Department of Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, Genova, Italy
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Maria Parpagnoli
Maria Parpagnoli
Anna Meyer Children's University Hospital, Florence, Italy
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MariaCarolina Salerno
MariaCarolina Salerno
Department of Translational Medicine, University Federico II, Naples, Italy
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Marco Pitea
Marco Pitea
Pediatric Unit, Ospedale San Raffaele, Milano, Italy
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Maria Elisabeth Street
Maria Elisabeth Street
Division of Paediatric Endocrinology and Diabetology, Paediatrics, Department of Mother and Child-AUSL of Reggio Emilia-IRCCS, Reggio Emilia, Italy
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Andrea Secco
Andrea Secco
Pediatric Unit, Azienda ospedaliero Nazionale SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy
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Adolfo Andrea Trettene
Adolfo Andrea Trettene
Pediatric Unit, ASST Sette Laghi, Varese, Italy
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Malgorzata Wasniewska
Malgorzata Wasniewska
Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy
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Nicola Corciulo
Nicola Corciulo
Pediatric Unit, P.O. Gallipoli, ASL Lecce, Italy
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Gianluca Tornese
Gianluca Tornese
Institute for maternal and child health IRCCS Burlo Garofalo, Trieste, Italy
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Maria Felicia Faienza
Maria Felicia Faienza
DAI Scienze Chirurgiche e Pediatriche, Ospedale Pediatrico Giovanni XXIII, Bari, Italy
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Maurizio Delvecchio
Maurizio Delvecchio
U.O. Malattie Metaboliche e Genetiche e Diabetologia, Ospedale Pediatrico Giovanni XXIII, Bari, Italy
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Simona Filomena Madeo
Simona Filomena Madeo
Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena & Reggio Emilia, Paediatric Unit, Modena, Italy
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Lorenzo Iughetti
Lorenzo Iughetti
Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena & Reggio Emilia, Paediatric Unit, Modena, Italy
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Introduction The short stature homeobox-containing (SHOX) gene, located in pseudo-autosomal region 1 of the short arms of the X and Y chromosomes, encodes a homeodomain transcription factor involved in the regulation of longitudinal growth and
Marie Lindhardt Ljubicic
Marie Lindhardt Ljubicic
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Trine Holm Johannsen
Trine Holm Johannsen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Margit Bistrup Fischer
Margit Bistrup Fischer
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Emmie N Upners
Emmie N Upners
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Alexander S Busch
Alexander S Busch
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Katharina M Main
Katharina M Main
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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Anna-Maria Andersson
Anna-Maria Andersson
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Casper P Hagen
Casper P Hagen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Anders Juul
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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2006 Consensus Statement ( 4 ) were included in this study. The patients were identified via a database of patients with DSD followed at the Department of Growth and Reproduction, Copenhagen University Hospital, between January 1, 1996 and October 30
Martin Bidlingmaier
Martin Bidlingmaier
Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians University, Munich, Germany
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Helena Gleeson
Helena Gleeson
Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK
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Ana-Claudia Latronico
Ana-Claudia Latronico
Department of Internal Medicine, Discipline of Endocrinology and Metabolism, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil
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Martin O Savage
Martin O Savage
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
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contribute to accurate biochemical diagnosis of growth disorders; (ii) to discuss how to utilise genetic analyses appropriately to confirm pathogenesis and enable personalised clinical management; and (iii) to review approaches to the integration of precision
