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Deirdre Green
Deirdre Green
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
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Rosemary Dineen
Rosemary Dineen
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
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Michael W O’Reilly
Michael W O’Reilly
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
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Mark Sherlock
Mark Sherlock
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
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) Classic Sexual infantilism Failure to develop secondary sexual characteristics 46,XX – Müllerian structures with streak gonads 46,XY – blind vaginal pouch Hypergonadotropic hypogonadism Impaired spermatogenesis and
Elena Valassi
Elena Valassi
Endocrinology Department, Germans Trias i Pujol Hospital and Research Institute, Badalona, Barcelona, Spain
IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Iacopo Chiodini
Iacopo Chiodini
IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Richard A Feelders
Richard A Feelders
Division of Endocrinology, Erasmus Medical Centre, Rotterdam, Netherlands
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Cornelie D Andela
Cornelie D Andela
Division of Endocrinology and Centre for Endocrine Tumours, Leiden University Medical Centre, Leiden, Netherlands
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Margueritta Abou-Hanna
Margueritta Abou-Hanna
HRA Pharma Rare Diseases, Châtillon, France
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Sarah Idres
Sarah Idres
HRA Pharma Rare Diseases, Châtillon, France
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Antoine Tabarin
Antoine Tabarin
Department of Endocrinology and INSERM U862 University and CHU of Bordeaux, Pessac, France
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physicians. Methods Patient questionnaire design A 12-item patient questionnaire was developed based on the generally understood clinical characteristics and symptomology of CS, aiming to assess patients’ experiences of symptoms, diagnosis, care
Supitcha Patjamontri
Supitcha Patjamontri
Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK
Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
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Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
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Alexander Spiers
Alexander Spiers
MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
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NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
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Rachel B Smith
Rachel B Smith
MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK
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NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK
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Chen Shen
Chen Shen
MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
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NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
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Jo Adaway
Jo Adaway
Department of Clinical Biochemistry, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK
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Brian G Keevil
Brian G Keevil
Department of Clinical Biochemistry, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK
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Mireille B Toledano
Mireille B Toledano
MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK
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NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK
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S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK
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months by the same participant, only the first completed was used for analysis ( Fig. 1 ). The questionnaire asked participants to self-report secondary sexual characteristic development from 1 (development not started) to 4 (development completed). Scale
Annelies van’t Westeinde
Annelies van’t Westeinde
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
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Leif Karlsson
Leif Karlsson
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
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Valeria Messina
Valeria Messina
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
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Lena Wallensteen
Lena Wallensteen
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
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Manuela Brösamle
Manuela Brösamle
European Patient Advocacy Group for Adrenal Diseases, European Reference Network on Rare Endocrine Conditions (Endo ERN), Endo ERN Coordinating Centre, Leiden, The Netherlands
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Giorgio Dal Maso
Giorgio Dal Maso
ArfSAG (Associazione Refionale Famiglie Sindrome Adreno Genitale) c/o Unita Operativa di Pediatria, Azienda Ospedaliero Universitaria di Bologna, Policlinico S Orsala-Malpighi, Bologna, Italy
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Alessandro Lazzerini
Alessandro Lazzerini
Spanish Association of Congenital Adrenal Hyperplasia (CAH), Spain
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Jette Kristensen
Jette Kristensen
ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark
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Diana Kwast
Diana Kwast
Dutch Adrenal Society NVACP, Nijkerk, The Netherlands
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Lea Tschaidse
Lea Tschaidse
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
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Matthias K Auer
Matthias K Auer
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
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Hanna F Nowotny
Hanna F Nowotny
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
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Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
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Nicole Reisch
Nicole Reisch
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
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Svetlana Lajic
Svetlana Lajic
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
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related to sexual function may not be avoided and are frequently reported ( 15 ), even if surgery is performed at a later age ( 18 , 19 , 20 ). Alternatively, patients and parents may opt out of surgery. There is some indication that GC treatment alone
Marta Araujo-Castro
Marta Araujo-Castro
Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain
University of Alcalá, Madrid, Spain
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University of Alcalá, Madrid, Spain
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Miguel Paja Fano
Miguel Paja Fano
Department of Endocrinology & Nutrition, OSI Bilbao-Basurto, Hospital Universitario de Basurton & Basque Country University, Medicine Department, Bilbao, Spain
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Begoña Pla Peris
Begoña Pla Peris
Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain
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Marga González Boillos
Marga González Boillos
Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain
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Eider Pascual-Corrales
Eider Pascual-Corrales
Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain
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Ana María García-Cano
Ana María García-Cano
Department of Biochemistry, Hospital Universitario Ramón y Cajal, Madrid, Spain
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Paola Parra Ramírez
Paola Parra Ramírez
Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain
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Patricia Martín Rojas-Marcos
Patricia Martín Rojas-Marcos
Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain
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Jorge Gabriel Ruiz-Sanchez
Jorge Gabriel Ruiz-Sanchez
Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain
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Almudena Vicente
Almudena Vicente
Department of Endocrinology & Nutrition, Hospital Universitario de Toledo, Toledo, Spain
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Emilia Gómez-Hoyos
Emilia Gómez-Hoyos
Department of Endocrinology & Nutrition, Hospital Universitario de Valladolid, Valladolid, Spain
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Rui Ferreira
Rui Ferreira
Department of Endocrinology & Nutrition, Hospital Universitario Rey Juan Carlos, Madrid, Spain
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Iñigo García Sanz
Iñigo García Sanz
Department of General & Digestive Surgery, Hospital Universitario de La Princesa, Madrid, Spain
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Mónica Recasens
Mónica Recasens
Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain
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Rebeca Barahona San Millan
Rebeca Barahona San Millan
Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain
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María José Picón César
María José Picón César
Department of Endocrinology & Nutrition, Hospital Universitario Virgen de la Victoria de Málaga, IBIMA Malaga, Spain CIBEROBN, Madrid, Spain
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Patricia Díaz Guardiola
Patricia Díaz Guardiola
Department of Endocrinology & Nutrition, Hospital Universitario Infanta Sofía, Madrid, Spain
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Carolina Perdomo
Carolina Perdomo
Department of Endocrinology & Nutrition, Clínica Universidad de Navarra, Pamplona, Spain
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Laura Manjón
Laura Manjón
Department of Endocrinology & Nutrition, Hospital Universitario Central de Asturias & Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain
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Rogelio García-Centeno
Rogelio García-Centeno
Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain
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Juan Carlos Percovich
Juan Carlos Percovich
Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain
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Ángel Rebollo Román
Ángel Rebollo Román
Department of Endocrinology & Nutrition, Hospital Reina Sofía, Córdoba, Spain
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Paola Gracia Gimeno
Paola Gracia Gimeno
Department of Endocrinology & Nutrition, Hospital Rollo Villanova, Zaragoza, Spain
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Cristina Robles Lázaro
Cristina Robles Lázaro
Department of Endocrinology & Nutrition, Complejo Universitario de Salamanca, Salamanca, Spain
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Manuel Morales
Manuel Morales
Biochemistry and Molecular Genetics Department-CDB, Hospital Clinic, IDIBAPS, CIBERehd, Barcelona, Spain
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María Calatayud
María Calatayud
Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain
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Simone Andree Furio Collao
Simone Andree Furio Collao
Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain
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Diego Meneses
Diego Meneses
Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain
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Miguel Antonio Sampedro Nuñez
Miguel Antonio Sampedro Nuñez
Department of Endocrinology & Nutrition, Hospital Universitario La Princesa, Madrid, Spain
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Verónica Escudero Quesada
Verónica Escudero Quesada
Department of Nephrology, Hospital Universitario Doctor Peser, Valencia, Spain
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Elena Mena Ribas
Elena Mena Ribas
Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain
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Alicia Sanmartín Sánchez
Alicia Sanmartín Sánchez
Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain
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Cesar Gonzalvo Diaz
Cesar Gonzalvo Diaz
Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain
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Cristina Lamas
Cristina Lamas
Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain
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Raquel Guerrero-Vázquez
Raquel Guerrero-Vázquez
Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain
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María del Castillo Tous
María del Castillo Tous
Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain
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Joaquín Serrano
Joaquín Serrano
Department of Endocrinology & Nutrition, Hospital General Universitario de Alicante, Alicante, Spain
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Theodora Michalopoulou
Theodora Michalopoulou
Department of Endocrinology and Nutrition, Joan XXIII University Hospital, Tarragona, Spain
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Eva María Moya Mateo
Eva María Moya Mateo
Internal Medicine, Hospital Infanta Leonor de Vallecas, Madrid, Spain
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Felicia Hanzu
Felicia Hanzu
Department of Endocrinology & Nutrition, Hospital Clinic, IDIPAS, Barcelona, Spain
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Introduction Primary aldosteronism (PA) is the most common cause of secondary hypertension, with a prevalence of close to 10% in all hypertensive patients, and 20% in the setting of resistant hypertension ( 1 ). Excess aldosterone in PA is
