Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

"Declaration of interests A postdoctoral fellowship from the Education Department of Basque Government (Spain) was granted to Idoia Martinez de Lapiscina. The SF1next study group was formed from the I-DSD research community (https://sdmregistries.org/), and related networks caring for rare patients with a DSD associated with NR5A1/SF-1 variants."

"Members of SF1next study group: Saygin Abali, Acibadem Mehmet Ali Aydinlar University, School of Medicine, Istanbul, Turkey; Zehra Yavas Abali, Marmara University, Department of Pediatric Endocrinology and Diabetes, Pendik, Istanbul, Turkey; Leyla Akin, Department of Pediatric Endocrinology and Diabetes, Ondokuz Mayis University, Samsun, Turkey; Maricruz Almaraz, Department of Endocrinology and Nutrition, Hospital Regional Universitario de Málaga, Instituto de Investigación Biomédica de Málaga-IBIMA, Málaga, Spain; Laura Audí, Growth and Development Group Vall d’Hebron Research Institute (VHIR), CIBERER, Barcelona, Spain; Murat Aydin, Department of Pediatric Endocrinology and Diabetes, Ondokuz Mayis University, Samsun, Turkey; Antonio Balsamo, Researcher of Alma Mater Studiorum, S. Orsola-Malpighi, University Hospital, Bologna, Italy; Federico Baronio, Department of Medical and Surgical Sciences, IRCCS S. Orsola-Malpighi, University Hospital, Bologna, Italy; Jillian Bryce, Office for Rare Conditions, University of Glasgow, Glasgow, United Kingdom; Kanetee Busiah, Paediatric Endocrinology, Diabetology and Obesity Unit, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland; Maria Caimari, Hospital Universitario Son Espases, Palma de Mallorca, Spain; Núria Camats-Tarruella, Growth and Development Group, Vall d’Hebron Research Institute (VHIR), CIBERER, Barcelona, Spain; Ariadna Campos-Martorell, Hospital Universitario Vall d'Hebron, Barcelona, Spain; Luis Castaño, Biobizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Endo-ERN, Barakaldo, Spain; Anna Casteràs, Department of Endocrinology, Hospital Universitario Vall d'Hebron, Barcelona, Spain; Semra Çetinkaya, University of Health Sciences Turkey, Ankara, Turkey, Clinic of Pediatric Endocrinology, Dr. Sami Ulus, Obstetrics and Pediatrics Training and Research Hospital, Ankara, Turkey; Yee-Ming Chan, Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA, Department of Pediatrics Harvard Medical School, Boston, Massachusetts, USA, Eunice Kennedy Shriver National Institute of Child Health and Human Development grant R01 HD089521; Hedi L Claahsen - van der Grinten, Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; Ines Costa, Pediatric Department, Manises Hospital, Manises, Spain; Fatma Feyza Darendeliler, Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; Justin H Davies, Southampton Children's Hospital, University Hospital Southampton, Southampton, United Kingdom; Isabel Esteva, Endocrinology Department, Gender Identity Unit, Regional University Hospital of Malaga, Málaga, Spain; Helena Fabbri-Scallet, Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering (CBMEG)/Unicamp, Sao Paulo, Brazil; Courtney A Finlayson, Division of Endocrinology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA; Emilio Garcia, Hospital Virgen del Rocío, Sevilla, Spain; Beatriz Garcia-Cuartero, Pediatric Endocrinology Department, Ramón y Cajal University Hospital, Madrid, Spain; Alina German, Haemek Medical Center, Afula, Israel, Technion, Israel Institute of Technology; Evgenia Globa, Ukrainian Research Center of Endocrine Surgery, Endocrine Organs and Tissue Transplantation, Paediatric Endocrinology Department, Ministry of Health of Ukraine, Kyiv, Ukraine; Gil Guerra-Junior, Interdisciplinary Group for the Study of Sex Determination and Differentiation – GIEDDS and Department of Pediatrics, School of Medical Sciences, State University of Campinas, Sao Paulo, Brazil; Julio Guerrero, Hospital Infantil La Paz, Madrid, Spain; Tulay Guran, Marmara University, Department of Pediatric Endocrinology and Diabetes, Pendik, Istanbul, Turkey; Sabine E Hannema, Department of Paediatric Endocrinology, Amsterdam UMC location Vrije Universiteit, Amsterdam, the Netherlands, Erasmus Medical Center, Sophia Children's Hospital, Department of Pediatric Endocrinology, Rotterdam, the Netherlands and Leiden University Medical Center, Department of Pediatrics, Leiden, Netherlands; Olaf Hiort, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, Germany; Josephine Hirsch, Division of Urology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA; Leuan Hughes, Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom; Marco Janner, Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Zofia Kolesinska, Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; Katherine Lachlan, Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, United Kingdom; Anna Lauber-Biason, Faculty of Science and Medicine, University of Fribourg, Fribourg, Switzerland; Dagmar L'Allemand, Department of Endocrinology, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland; Jana Krenek Malikova, Department of Paediatrics, Second Faculty of Medicine of Charles University and University Hospital Motol, Prague, Czech Republic; Nina Lenhnerr-Taube, Division of Pediatric Endocrinology and Diabetology and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland; Angela Lucas–Herald, Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom; Jamala Mammadova, Department of Pediatric Endocrinology and Diabetes, Ondokuz Mayis University, Samsun, Turkey; Kenneth MсElreavey, Human Developmental Genetics, Institute Pasteur, Paris, France; Veronica Mericq, Institute of Maternal and Child Research, University of Chile, Santiago, Chile; Isabel Mönig, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, Germany; Francisca Moreno, Hospital Infantil La Fe, Valencia, Spain; Julia Mührer, Division of Pediatric Endocrinology and Diabetology and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland; Marek Niedziela, Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; Anna Nordenstrom, Pediatric Endocrinology, Karolinska University Hospital, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Burçe Orman, University of Health Sciences Turkey, Ankara; Clinic of Pediatric Endocrinology, Dr. Sami Ulus, Obstetrics and Pediatrics Training and Research Hospital, Ankara, Turkey; Sukran Poyrazoglu, Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; Jose M Rial, Pediatric Endocrinology Department, Hospitem Rambla, Santa Cruz de Tenerife, Spain; Meilan M Rutter, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, USA, DSD Translational Research Network, USA; Amaia Rodríguez, Biobizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Endo-ERN, Barakaldo, Spain; Tara Schafer-Kalkhoff, Division of Endocrinology, Cincinnati Children's Hospital, Cincinnati, USA; Kay-Sara Sauter, Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland, Department for BioMedical Research, University of Bern, Bern, Switzerland; Sumudu Nimali, Seneviratne Department of Paediatrics, University of Colombo, Colombo, Sri Lanka; Maria Sredkova-Ruskova, University Pediatrics Hospital, Medical University, Department of Clinical Genetics, Sofia, Bulgaria; Rieko Tadokoro-Cuccaro, Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom; Ajay Thankamony, Department of Paediatrics, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Mónica Tomé, Department of Endocrinology and Nutrition, Hospital Regional Universitario de Málaga, Instituto de Investigación Biomédica de Málaga-IBIMA, Málaga, Spain; Amaia Vela, Biobizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Endo-ERN, Barakaldo, Spain; Malgorzata Wasniewska, University of Messina, Department of Human Pathology of Adulthood and Childhood, Messina, Italy; David Zangen, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, Pediatric Endocrinology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Nataliya Zelinska, Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of the Ministry of Health of Ukraine, Kyiv, Ukraine."