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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
Luigi Laino Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Silvia Majore Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Nicoletta Preziosi Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Barbara Grammatico Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Carmelilia De Bernardo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Salvatore Scommegna Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Anna Maria Rapone Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Giacinto Marrocco Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Irene Bottillo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Paola Grammatico
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signals that specify sex-specific development of sex organs or endocrine function. The term disorders of sex development (DSD) embraces all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex (1) . Thus, a wide

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0085
Volume/Issue:
Volume 3: Issue 4
Open access
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
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
Sneha Arya Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Sandeep Kumar Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Anurag R Lila Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India

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Saba Samad Memon Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Rohit Barnabas Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Hemangini Thakkar Department of Radiology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Virendra A Patil Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Nalini S Shah Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Tushar R Bandgar Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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risk in exonic WT1 pathogenic variants is sparse ( 8 ). In this study, we describe the phenotypic and genotypic spectrum of WT1 pathogenic variants from a large cohort of Asian–Indian 46,XY DSD. Additionally, a systematic literature review was done

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0289
Volume/Issue:
Volume 10: Issue 12
Open access
Sebastian Franik Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands

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Kathrin Fleischer Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands

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Barbara Kortmann Department of Pediatric Urology, Radboudumc, Nijmegen, The Netherlands

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Nike M Stikkelbroeck Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands

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Kathleen D’Hauwers Department of Urology, Radboudumc, Nijmegen, The Netherlands

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Claire Bouvattier Department of Pediatric Endocrinology, Bicêtre Hospital, Paris Sud University, Paris, France

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

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Solange Grunenwald Department of Endocrinology and Metabolic Disease, Centre Hospitalier Universitaire de Toulouse, Toulouse, France

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Tim van de Grift Departments of Plastic Surgery and Medical Psychology, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands

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Audrey Cartault Department of Pediatrics, Hospital des Enfants, Toulouse, France

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Annette Richter-Unruh Kinderendokrinologie und Diabetologie, Universitätsklinikum Ruhr-Universität Bochum, Kinderklinik, Bochum, Germany

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

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Ute Thyen Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Lubeck, Germany

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Joanna IntHout Department for Health Evidence, Radboudumc, Nijmegen, The Netherlands

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Hedi L Claahsen-van der Grinten Department of Pediatric Endocrinology, Amalia Childrens Hospital, Radboudumc, Nijmegen, The Netherlands

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the dsd-LIFE Group
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the dsd-LIFE Group

engagement, age of diagnosis, testosterone therapy and physical and mental health status, and to compare values to a European Social Surveys (ESS) reference population. Methods Study population This study was part of the European dsd-LIFE study, a

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0010
Volume/Issue:
Volume 11: Issue 7
Open access
R Walia Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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M Singla Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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K Vaiphei Department of Histopathology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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S Kumar Department of Urology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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A Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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Introduction Disorder of sex development (DSD) is defined as congenital condition in which the development of chromosomal, gonadal or anatomic sex is atypical ( 1 ). The incidence of DSD is 1:4500 to 1:5000 live births ( 2 , 3 ). It is a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0022
Volume/Issue:
Volume 7: Issue 2
Open access
E Kohva Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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P J Miettinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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S Taskinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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M Hero Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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A Tarkkanen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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T Raivio Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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Background Disorders of sexual development (DSD) are congenital conditions in which the chromosomal, anatomic or gonadal sex development is atypical ( 1 ). Today, DSD is classified into three major categories by the patient’s karyotype: sex

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0070
Volume/Issue:
Volume 7: Issue 4
Open access
Sebastian Franik Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands

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Kathrin Fleischer Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands

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Barbara Kortmann Department of Pediatric Urology, Radboudumc, Nijmegen, The Netherlands

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Nike M Stikkelbroeck Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands

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Kathleen D’Hauwers Department of Urology, Radboudumc, Nijmegen, The Netherlands

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Claire Bouvattier Department of Pediatric Endocrinology, Bicêtre Hospital, Paris Sud University, France

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

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Solange Grunenwald Department of Endocrinology and Metabolic Disease, Centre Hospitalier Universitaire de Toulouse, France

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Tim van de Grift Departments of Plastic Surgery and Medical Psychology, Amsterdam UMC location VUmc, Amsterdam, The Netherlands

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Audrey Cartault Department of Pediatrics, Hospital Des Enfants, Toulouse, France

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Annette Richter-Unruh Kinderendokrinologie und Diabetologie, Universitätsklinikum Ruhr-Universität Bochum, Kinderklinik, Bochum, Germany

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

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Ute Thyen Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Ratzeburger Allee, Lubeck, Germany

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Joanna IntHout Department for Health Evidence, Radboudumc, Nijmegen, The Netherlands

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Hedi L Claahsen-van der Grinten Department of Pediatric Endocrinology, Amalia Childrens Hospital, Radboudumc, Nijmegen, The Netherlands

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the dsd-LIFE group
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the dsd-LIFE group

. Methods Study population This study was part of the European dsd-LIFE study ( https://www.dsd-life.eu/ ), a non-interventional, clinical, cross-sectional study ( 8 ). The purpose of the study was to investigate and compare the long-term outcomes of

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0111
Volume/Issue:
Volume 12: Issue 10
Open access
Mohamed Hssaini Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco
Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

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Sana Abourazzak Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

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Ihsane El Otmani Laboratory of Health Sciences and Technologies, Higher Institute of Health Sciences, Hassan First University of Settat, Morocco

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Mohamed Ahakoud Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

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Amina Ameli Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

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Laila Bouguenouch Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

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Hicham Bekkari Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

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Introduction Differences (or disorders) of sex development (DSD) are defined as congenital conditions in which inconsistencies occur in chromosomal, gonadal, and anatomical (genital) sex development ( 1 ). DSD exhibits intricate

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-24-0236
Volume/Issue:
Volume 13: Issue 10
Open access