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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

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Yardena Tenenbaum-Rakover Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Osnat Admoni Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Ghadir Elias-Assad Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Shira London Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Marie Noufi-Barhoum Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel

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Hanna Ludar Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Tal Almagor Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Yoav Zehavi Pediatric Department, B, Ha’Emek Medical Center, Afula, Israel

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Charles Sultan Pediatric Endocrinology and Gynecology Unit, CHU de Montpellier, Hôpital Arnaud de Villeneuve et Université Montpellier, Montpellier, France

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Rita Bertalan Institute Pasteur, Rue Dr Roux, Paris, France

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Anu Bashamboo Institute Pasteur, Rue Dr Roux, Paris, France

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Kenneth McElreavey Institute Pasteur, Rue Dr Roux, Paris, France

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Introduction Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia and gonadal and chromosomal sex ( 1 ). The prevalence of DSD, including hypospadias, is estimated at 5 out of 1000 newborns

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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

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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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. ( https://doi.org/10.1016/j.jpurol.2006.03.004 ) 10.1016/j.jpurol.2006.03.004 18947601 2 Hutson JM Grover SR O’Connell M Pennell SD. Malformation syndromes associated with disorders of sex development . Nature Reviews Endocrinology 2014 10 476

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Zofia Kolesinska Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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James Acierno Jr Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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

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Cheng Xu Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Karina Kapczuk Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland

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Anna Skorczyk-Werner Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Hanna Mikos Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Aleksandra Rojek Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Andreas Massouras Saphetor, SA, Lausanne, Switzerland

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Maciej R Krawczynski Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Pitteloud Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Introduction Differences and/or disorders of sex development (DSD) represent rare congenital conditions in which gonadal, chromosomal or anatomical sex is atypical. Due to its heterogeneous clinical presentation and genetic architecture

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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

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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

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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

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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

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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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Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches.

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