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Martin Bidlingmaier Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians University, Munich, Germany

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Helena Gleeson Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK

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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 Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK

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. Endocrine Practice 2019 25 1191 – 1232 . ( https://doi.org/10.4158/GL-2019-0405 ) 43 Gelwane G Garel C Chevenne D Armoogum P Simon D Czernichow P Leger J . Subnormal serum insulin-like growth factor-I levels in young adults with childhood

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Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0177
Volume/Issue:
Volume 11: Issue 10
Open access
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 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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Béatrice Demaret GRANDIR - French Growth Disorders Association, Asnières-sur-Seine, France

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Robin Henocque Pfizer France, Paris France

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Yves Brault Pfizer France, Paris France

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François Montestruc eXYSTAT, Malakoff, France

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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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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
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the QOLITHOR Study Group

of rhGH treatment together with other factors related to demographics and/or treatment. Material and methods Study design QOLITHOR is a non-interventional, multicenter, cross-sectional study conducted in 11 hospitals that belong to the

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Research Article
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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0464
Volume/Issue:
Volume 12: Issue 4
Open access
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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psychosocial, cultural and intellectual spheres. The biological process depends upon the re-awakening of the hypothalamic–pituitary–gonadal (HPG) axis heralded by the re-emergence of pulsatile GnRH secretion directed by other, upstream, hypothalamic factors

Article Type:
Review Article
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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0190
Volume/Issue:
Volume 12: Issue 11
Open access
A Bergougnoux Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France

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L Gaspari Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France

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M Soleirol Département de Pediatrie, CHU Nîmes, France, Université de Montpellier Faculté de Médecine Montpellier-Nîmes, Montpellier, France

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N Servant Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France

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S Soskin Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France

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S Rossignol Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France

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K Wagner-Mahler Département de Pédiatrie, CHU Nice, Hôpitaux Pédiatriques de Nice CHU-Lenval, Nice, France

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J Bertherat Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Université Paris Cité, Institut Cochin, Assitance Publique-Hôpitaux de Paris, Paris, France

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C Sultan Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France

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N Kalfa Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France

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F Paris Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France

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Fujiwara F & Fujieda K . A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure . Endocrine Journal 2009 56 619 – 624 . ( https://doi.org/10

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Research Article
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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0267
Volume/Issue:
Volume 12: Issue 12
Open access
Sommayya Aftab Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Diliara Gubaeva Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

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Jayne A L Houghton The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK

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Antonia Dastamani Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Ellada Sotiridou Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Clare Gilbert Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Sarah E Flanagan Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK

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Anatoly Tiulpakov Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

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Maria Melikyan Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

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Pratik Shah Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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/HA syndrome due to a GLUD1 activating mutation. We further explored the significance of different risk factors that can lead to the development of neurological disorders in these children. Materials and methods We retrospectively analysed all cases

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Research Article
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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0008
Volume/Issue:
Volume 12: Issue 4
Open access
Alberto Battezzati International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy

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Andrea Foppiani International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy

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Gianfranco Alicandro Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy

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Arianna Bisogno Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy

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Arianna Biffi Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy

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Giorgio Bedogni Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy
Internal Medicine, S. Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy

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Simona Bertoli International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
Istituto Auxologico Italiano, IRCCS, Obesity Unit - Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy

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Giulia De Carlo International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy

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Erica Nazzari Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy

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Carla Colombo Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy

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Dobie R Altowati MA Werther GA Farquharson C Ahmed SF . Growth and the growth hormone-insulin like growth factor 1 axis in children with chronic inflammation: current evidence, gaps in knowledge, and future directions . Endocrine Reviews 2016

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Research Article
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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0056
Volume/Issue:
Volume 11: Issue 5
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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 Pediatric Endocrinologic Unit, Regina Margherita Children’s Hospital, Turin, Italy

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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 Department of Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, Genova, Italy

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Maria Parpagnoli Anna Meyer Children's University Hospital, Florence, Italy

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MariaCarolina Salerno Department of Translational Medicine, University Federico II, Naples, Italy

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Marco Pitea Pediatric Unit, Ospedale San Raffaele, Milano, Italy

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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 Pediatric Unit, Azienda ospedaliero Nazionale SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy

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Adolfo Andrea Trettene Pediatric Unit, ASST Sette Laghi, Varese, Italy

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Malgorzata Wasniewska Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy

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Nicola Corciulo Pediatric Unit, P.O. Gallipoli, ASL Lecce, Italy

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Gianluca Tornese Institute for maternal and child health IRCCS Burlo Garofalo, Trieste, Italy

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Maria Felicia Faienza DAI Scienze Chirurgiche e Pediatriche, Ospedale Pediatrico Giovanni XXIII, Bari, Italy

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Maurizio Delvecchio U.O. Malattie Metaboliche e Genetiche e Diabetologia, Ospedale Pediatrico Giovanni XXIII, Bari, Italy

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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 Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena & Reggio Emilia, Paediatric Unit, Modena, Italy

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collected data from several tertiary paediatric endocrine centres, affiliated to the Italian Society of Pediatric Endocrinology and Diabetology Study Group on Growth Factors and Puberty. Moreover, basing on the large national cohort, we would like to

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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0402
Volume/Issue:
Volume 12: Issue 7
Open access
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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Jessica Green Alder Hey Children's NHS Foundation Trust, Pediatric Intensive Care Unit, Eaton Road Liverpool, Great Britain

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Anja Willenberg Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany

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Uta Ceglarek Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany

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Ingo Dähnert Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany

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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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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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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

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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0120
Volume/Issue:
Volume 12: Issue 10
Open access
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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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

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Review Article
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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0373
Volume/Issue:
Volume 12: Issue 1
Open access
Danielle Christine Maria van der Kaay Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Anne Rochtus Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium

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Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany

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Ingo Kurth Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Dirk Prawitt Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany

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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 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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Anita C S Hokken-Koelega Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Miriam Elbracht Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Thomas Eggermann Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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radiologic and clinical examinations suggest an endocrine cause of the growth disturbance, growth hormone stimulation tests (GHSTs), serum insulin-like growth factor (IGF1), and sometimes an IGF1 generation test are used to investigate the growth hormone (GH

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0277
Volume/Issue:
Volume 11: Issue 11
Open access