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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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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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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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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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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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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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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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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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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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clinically. Particularly, in patients with differences of sex development (DSD), a heterogeneous group of conditions in which the anatomical, gonadal, or chromosomal sex is affected ( 4 ), the ratio would be of potential interest. In some newborns with DSD

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0275
Volume/Issue:
Volume 12: Issue 3
Open access
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 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 Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria

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increasing cord blood C-peptide concentrations ( 5 ). Are there sex differences in the effect of PA on fetal growth? Both sexes follow different growth trajectories and fetal insulin is associated with length and weight in a sex-specific manner ( 6 , 7

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0500
Volume/Issue:
Volume 13: Issue 3
Open access
Luca Persani Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Martine Cools Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

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Stamatina Ioakim Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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S Faisal Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom

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Silvia Andonova National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria

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Magdalena Avbelj-Stefanija Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia

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Federico Baronio Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

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Jerome Bouligand Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France

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Hennie T Bruggenwirth Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands

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Justin H Davies Faculty of Medicine, University of Southampton, Southampton, United Kingdom

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Elfride De Baere Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

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Iveta Dzivite-Krisane Children’s University Hospital, Riga, Latvia

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Paula Fernandez-Alvarez Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain

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Alexander Gheldof Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium

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Claudia Giavoli Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Claus H Gravholt Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark

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Olaf Hiort University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany

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Paul-Martin Holterhus University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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Anders Juul Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark

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Csilla Krausz Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy

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Kristina Lagerstedt-Robinson Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden

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Ruth McGowan Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom

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Uta Neumann Charité Medicine University, Berlin, Germany

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Antonio Novelli Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy

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Xavier Peyrassol Universitè Libre di Bruxelles, Brussels, Belgium

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Leonidas A Phylactou Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

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Julia Rohayem University Hospital Münster, Munster, Germany

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Philippe Touraine Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France

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Dineke Westra Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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Valeria Vezzoli Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Raffaella Rossetti Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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European countries and the respective National Health Systems (NHS) ( 1 , 2 ), thus representing an example of significant disparity among citizens within the European Union. The disorders or differences of sex development and maturation (SDM) include

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0367
Volume/Issue:
Volume 11: Issue 12
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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associations turned out to be linear. Therefore, results are presented as slopes ( β ), slopes for interaction (ia) terms are indicated by ia as subscript ( β ia ). We also checked for differences in the associations between sexes and age groups. Breakpoints

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0120
Volume/Issue:
Volume 12: Issue 10
Open access
Yijun Tang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yao Chen Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jiayi Wang Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Qianwen Zhang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yirou Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yufei Xu Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xin Li Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jian Wang International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xiumin Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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. Health-related quality of life and psychological well-being in adults with differences/disorders of sex development . Clinical Endocrinology 2017 86 634 – 643 . ( https://doi.org/10.1111/cen.13296 ) 2 Hughes IA Houk C Ahmed SF Lee PA , LWPES

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Research Article
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Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0029
Volume/Issue:
Volume 12: Issue 10
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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sensitivity and insulin secretion were lower in males (although differences in β cell glucose sensitivity did not reach statistical significance). Table 1 Baseline patient characteristics by sex. Characteristic Overall, n  = 66 Female, n

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Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0056
Volume/Issue:
Volume 11: Issue 5
Open access
Martijn J J Finken Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Aleid J G Wirix Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Ines A von Rosenstiel-Jadoul Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands

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Bibian van der Voorn Department of Pediatric Endocrinology and Obesity Center CGG, Erasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands

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Mai J M Chinapaw Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Michaela F Hartmann Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany

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Joana E Kist-van Holthe Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Stefan A Wudy Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany

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Joost Rotteveel Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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that the sex difference in A-ring reductase activity, as observed in young adulthood ( 26 ), emerged from an age of approximately 11 years ( 27 ), groups were compared using linear regression analysis adjusted for sex and age (< or ≥11 years). Next, a

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Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0130
Volume/Issue:
Volume 11: Issue 7
Open access
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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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 Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA

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Priya S Kishnani Duke University Medical Center, Durham, North Carolina, USA

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Lothar Seefried University of Würzburg, Würzburg, Germany

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Shona Fang Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA

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Cheryl Rockman-Greenberg University of Manitoba, Winnipeg, Manitoba, Canada

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Keiichi Ozono Osaka University, Suita, Osaka, Japan

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Kathryn Dahir Vanderbilt University Medical Center, Nashville, Tennessee, USA

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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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determined by the investigating physician who enrolled the patient in the Registry. Further, enrolled patients were required to have documentation of low serum alkaline phosphatase (ALP) activity under the age- and sex-adjusted reference range and/or a

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Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0240
Volume/Issue:
Volume 12: Issue 5
Open access
Claire L Wood Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Kieren G Hollingsworth Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Edrina Bokaie Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Eric Hughes Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Robert Muni-Lofra Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Anna Mayhew Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Rod T Mitchell MRC Centre for Reproductive Health, The University of Edinburgh, Queens Medical Research Institute, Edinburgh, UK

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Michela Guglieri Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Joseph McElvaney Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK

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Timothy D Cheetham Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Volker Straub Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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adjustment. Predicted lean body mass (LBM) for height was adjusted for sex and estimated Tanner stage. Stepwise linear regression was used with published reference ranges to obtain age, size and sex adjusted adjusted Z -scores for total body (minus head) BMC

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Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0245
Volume/Issue:
Volume 12: Issue 12
Open access
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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-negative group included patients with other confirmed genetic etiologies and unsolved cases, in addition to a negative PTPN11 test. Study outcomes The descriptive analysis included the following parameters: sex, other identified genetic mutations

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-21-0615
Volume/Issue:
Volume 11: Issue 4
Open access