Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

• Idoia Martinez de Lapiscina ,

  Roles Conceptualization, Data curation, Funding acquisition, Investigation, Methodology, Software, Writing – original draft, Writing – review & editing

  * E-mail: idoia.martinezdelapiscina@unibe.ch

  Affiliations Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland, Department for BioMedical Research, University of Bern, Bern, Switzerland, Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain, Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain, Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain, Endo-ERN, Amsterdam, The Netherlands

  https://orcid.org/0000-0001-8943-1429

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• Chrysanthi Kouri,

  Roles Methodology, Software, Writing – review & editing

  Affiliations Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland, Department for BioMedical Research, University of Bern, Bern, Switzerland, Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland

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• Josu Aurrekoetxea,

  Roles Software, Writing – review & editing

  Affiliations Biocruces Bizkaia Health Research Institute, Research Group of Medical Oncology, Cruces University Hospital, Barakaldo, Spain, University of the Basque Country (UPV-EHU), Leioa, Spain

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• Mirian Sanchez,

  Roles Conceptualization, Methodology, Writing – review & editing

  Affiliation Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain

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• Rawda Naamneh Elzenaty,

  Roles Writing – review & editing

  Affiliations Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland, Department for BioMedical Research, University of Bern, Bern, Switzerland, Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland

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• Kay-Sara Sauter,

  Roles Writing – review & editing

  Affiliations Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland, Department for BioMedical Research, University of Bern, Bern, Switzerland

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• Núria Camats,

  Roles Methodology, Writing – review & editing

  Affiliations Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain, Vall d’Hebron Research Institute (VHIR), Growth and Development group, Hospital Universitari Vall d’Hebron, Barcelona, Spain

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• Gema Grau,

  Roles Resources, Writing – review & editing

  Affiliations Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain, Endo-ERN, Amsterdam, The Netherlands, Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain

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• Itxaso Rica,

  Roles Resources, Writing – review & editing

  Affiliations Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain, Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain, Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain, Endo-ERN, Amsterdam, The Netherlands, Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain

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• Amaia Rodriguez,

  Roles Resources, Writing – review & editing

  Affiliations Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain, Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain

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• Amaia Vela,

  Roles Resources, Writing – review & editing

  Affiliations Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain, Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain, Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain, Endo-ERN, Amsterdam, The Netherlands, Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain

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• Alicia Cortazar,

  Roles Resources, Writing – review & editing

  Affiliations Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain, Endocrinology Department, Cruces University Hospital, Barakaldo, Spain

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• Maria Concepción Alonso-Cerezo,

  Roles Resources, Writing – review & editing

  Affiliation La Princesa University Hospital, Madrid, Spain

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• Pilar Bahillo,

  Roles Resources, Writing – review & editing

  Affiliation Department of Pediatrics, Pediatric Endocrinology Unit, x Clinic University Hospital of Valladolid, Valladolid, Spain

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• Laura Bertholt,

  Roles Resources, Writing – review & editing

  Affiliation Pediatric Endocrinology Department, Marques de Valdecilla University Hospital, Santander, Spain

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• Isabel Esteva,

  Roles Resources, Writing – review & editing

  Affiliation Endocrinology Section, Gender Identity Unit, Regional University Hospital of Malaga, Malaga, Spain

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• Luis Castaño ,

  Contributed equally to this work with: Luis Castaño, Christa E. Flück

  Roles Funding acquisition, Investigation, Resources, Supervision, Writing – review & editing

  Affiliations Biocruces Bizkaia Health Research Institute, Research into the Genetics and Control of Diabetes and other Endocrine Disorders, Cruces University Hospital, Barakaldo, Spain, Instituto de Salud Carlos III, CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain, Instituto de Salud Carlos III, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain, Endo-ERN, Amsterdam, The Netherlands, University of the Basque Country (UPV-EHU), Leioa, Spain, Department of Pediatric Endocrinology, Cruces University Hospital, Barakaldo Spain

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•  [ ... ],
• Christa E. Flück

  Contributed equally to this work with: Luis Castaño, Christa E. Flück

  Roles Conceptualization, Data curation, Funding acquisition, Investigation, Supervision, Writing – original draft, Writing – review & editing

  Affiliations Department of Pediatrics, Inselspital, Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, University of Bern, Bern, Switzerland, Department for BioMedical Research, University of Bern, Bern, Switzerland

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