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Letícia Ribeiro Oliveira Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil

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Carlos Alberto Longui Pediatric Endocrinology Unit, School of Medical Sciences, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil

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Guilherme Guaragna-Filho Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil

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José Luiz Costa School of Pharmaceutical Sciences, UNICAMP, Campinas, Sao Paulo, Brazil
Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Rafael Lanaro Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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David Antônio Silva Laboratory of Physiology, Division of Clinical Pathology, Clinical Hospital, UNICAMP, Campinas, Sao Paulo, Brazil

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Maria Izabel Chiamolera Fleury Group, Sao Paulo, Brazil

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Maricilda Palandi de Mello Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil

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André Moreno Morcillo Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Andrea Trevas Maciel-Guerra Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Gil Guerra-Junior Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Introduction The determination of steroid hormone concentration, which is part of the initial approach in the diagnosis of disorders of sex development (DSD), is one of the challenges in pediatric endocrinology ( 1 , 2 , 3 ). Based on the

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0454
Volume/Issue:
Volume 9: Issue 11
Open access
Henrik Falhammar Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

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Hedi Claahsen-van der Grinten Department of Pediatric Endocrine Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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Nicole Reisch Medizinische Klinik and Poliklinik IV, Department of Endocrinology, University Hospital Munich, Munich, Germany

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Jolanta Slowikowska-Hilczer Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland

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Anna Nordenström Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden
Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden

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Robert Roehle Coordinating Center for Clinical Studies, Charité Universitätsmedizin, Berlin, Germany

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Claire Bouvattier Paris-Sud University, Orsay, France
Department of Pediatric Endocrinology, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

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Baudewijntje P C Kreukels Department of Medical Psychology, VU University Medical Center, Amsterdam, The Netherlands

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Birgit Köhler Department of Paediatric Endocrinology and Diabetology, Charité Universitätsmedizin, Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

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on behalf of the dsd-LIFE group
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Introduction Disorders of sex development (DSD) are characterized by incongruence of chromosomal, gonadal and genital sex development, and in some conditions, impaired adrenal function. DSD can be divided into three major groups: DSD with

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0031
Volume/Issue:
Volume 7: 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
Brendan J Nolan Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia

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Aviva S Frydman Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia

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Shalem Y Leemaqz College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia

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Meg Carroll Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia

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Mathis Grossmann Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia

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Jeffrey D Zajac Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia

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Ada S Cheung Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia

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development of physical characteristics that align with their gender identity and improves mental health ( 1 ). There has been an ongoing debate regarding the inclusion of progesterone in feminising hormone therapy regimens. Some suggest progesterone may aid

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0170
Volume/Issue:
Volume 11: Issue 5
Open access
Liang Xue Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China
Department of Neurosurgery, 900TH Hospital of the Joint Logistics Support Force, Fuzhou, Fujian, China

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Jianwu Wu Department of Neurosurgery, 900TH Hospital of the Joint Logistics Support Force, Fuzhou, Fujian, China

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Jie Chen Department of Radiology, 900TH Hospital of the Joint Logistics Support Force, Fuzhou, Fujian, China

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Yongkai Yang Department of Neurosurgery, Affiliated Fuzhou First Hospital of Fujian Medical University, Fuzhou, Fujian, China

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factors influencing the development of DI after TSS for PAs. To this end, we established the following objectives: (i) retrospective data collection; (ii) observation of the elevation of the diaphragma sellae (DS) and changes in the pituitary stalk

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0187
Volume/Issue:
Volume 11: Issue 11
Open access
L A Hughes West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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K McKay-Bounford West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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E A Webb Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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P Dasani West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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S Clokie West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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H Chandran Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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L McCarthy Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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Z Mohamed Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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J M W Kirk Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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N P Krone Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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S Allen West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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T R P Cole West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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Introduction Disorders of sex development (DSD) encompass a wide range of conditions with diverse clinical features, pathophysiology and clinical management ( 1 , 2 , 3 ). The recently revised stratified DSD diagnostic pathway consists of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0376
Volume/Issue:
Volume 8: Issue 2
Open access
Mengxue Yang Department of Endocrinology, The Fifth People’s Hospital of Shanghai, Fudan University, Shanghai, China
Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Bowen Sun Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Jianhui Li Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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Bo Yang Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Jie Xu School of Public Health, Zunyi Medical University, Zunyi, China

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Xue Zhou Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Jie Yu School of Public Health, Zunyi Medical University, Zunyi, China

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Xuan Zhang Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Qun Zhang Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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Shan Zhou Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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Xiaohua Sun Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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genetic factors, environmental factors and immune factors ( 7 , 8 ). However, the exact mechanisms underlying the development of GD remain unclear. Segmented filamentous bacteria (SFB) may be effective inducers of Th17 cells in the intestinal mucosal

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0001
Volume/Issue:
Volume 8: Issue 7
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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Introduction Disorder of sex development (DSD) is a general term for diseases with inconsistencies between chromosomal karyotypes, external genitalia, and gonadal development ( 1 ). According to the DSD etiology classification defined in the

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0029
Volume/Issue:
Volume 12: Issue 10
Open access
Suvanjaa Sivalingam Department of Internal Medicine, Hospital of Southern Jutland, Sønderborg, Denmark

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Marianne Thvilum Department of Endocrinology and Metabolism, Odense University Hospital, Odense C, Denmark

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Thomas Heiberg Brix Department of Endocrinology and Metabolism, Odense University Hospital, Odense C, Denmark

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Laszlo Hegedüs Department of Endocrinology and Metabolism, Odense University Hospital, Odense C, Denmark
Department of Clinical Research, University of Southern Denmark, Odense M, Denmark

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Frans Brandt Department of Internal Medicine, Hospital of Southern Jutland, Sønderborg, Denmark
Department of Regional Health Research, University of Southern Denmark, Odense M, Denmark

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impact of month of birth for the development of GD has only received little attention ( 18 , 19 ). Due to low power, the findings have been inconclusive. In contrast to GD, it has never been investigated whether TNG is influenced by seasonality in month

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0185
Volume/Issue:
Volume 7: Issue 10
Open access
Claus H Gravholt Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

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Alberto Ferlin Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy

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Joerg Gromoll Centre of Reproductive Medicine and Andrology, Münster, Germany

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Anders Juul Department of Growth and Reproduction Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark

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Armin Raznahan Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA

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Sophie van Rijn Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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

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Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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Nicole Tartaglia Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Hanna Swaab Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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2016 in Münster, Germany ( 2 ). It was organized by Prof Hanna Swaab and her local organizing team at the University of Leiden, as well as an international scientific organizing team. Over 3 days, participants presented the latest developments within

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0500
Volume/Issue:
Volume 12: Issue 3
Open access