M Cherenko
M Cherenko
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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N M Appelman-Dijkstra
N M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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A L Priego Zurita
A L Priego Zurita
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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N R Biermasz
N R Biermasz
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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O M Dekkers
O M Dekkers
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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F A Klok
F A Klok
Department of Medicine, Division of Thrombosis and Haemostasis, Leiden University Medical Centre, Leiden, Netherlands
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N Reisch
N Reisch
Department of Medicine IV, LMU University Hospital, LMU Munich, Munich, Germany
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A Aulinas
A Aulinas
Department of Endocrinology, Fundacio de Gestio Sanitaria Hospital de la Santa Creu i Sant Pau, IR-SantPau and CIBERER Unit 747 (ISCIII), Barcelona, Spain
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B Biagetti
B Biagetti
Department of Endocrinology, Hospital Universitari Vall d’Hebron, Barcelona, Spain
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S Cannavo
S Cannavo
Endocrine Unit, University Hospital AOU Policlinico G. Martino, Messina, Italy
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L Canu
L Canu
University Hospital Florence Careggi, Florence, Italy
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M Detomas
M Detomas
Department of Internal Medicine, University Hospital Würzburg, Wuerzburg, Germany
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F Devuyst
F Devuyst
Department of Endocrinology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Brussels, Belgium
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H Falhammar
H Falhammar
Department of Endocrinology, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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R A Feelders
R A Feelders
Department of Internal Medicine, Division of Endocrinology, Erasmus MC, Rotterdam, Netherlands
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F Ferrau
F Ferrau
Endocrine Unit, University Hospital AOU Policlinico G. Martino, Messina, Italy
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F Gatto
F Gatto
IRCCS Ospedale Policlinico San Martino, Genova, Genoa, Italy
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C Grasselli
C Grasselli
Cardiovascular Medicine Unit, AUSL-IRCCS, Reggio Emilia, Italy
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P van Houten
P van Houten
Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, Netherlands
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C Hoybye
C Hoybye
Department of Endocrinology, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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A M Isidori
A M Isidori
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy
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A Kyrilli
A Kyrilli
Department of Endocrinology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Brussels, Belgium
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P Loli
P Loli
Division of Endocrinology, San Raffaele Vita-Salute University, IRCCS San Raffaele Hospital Milan, Italy
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D Maiter
D Maiter
Department of Endocrinology, Cliniques universitaires Saint-Luc – UCLouvain, Brussels, Belgium
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E Nowak
E Nowak
Department of Medicine IV, LMU University Hospital, LMU Munich, Munich, Germany
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R Pivonello
R Pivonello
Dipartimento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia, Andrologia e Nutrizione, Università “Federico II” di Napoli, Naples, Italy
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O Ragnarsson
O Ragnarsson
Sahlgrenska Academy, Wallenberg Centre for Molecular and Translational Medicine, Institute of Medicine (O.R.), University of Gothenburg, Sweden
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R V Steenaard
R V Steenaard
Department of Internal Medicine, Máxima MC, Veldhoven, Netherlands
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N Unger
N Unger
University Hospital Essen, Department of Endocrinology, Diabetes and Metabolism, Essen, Germany
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A van de Ven
A van de Ven
Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, Netherlands
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S M Webb
S M Webb
Department of Endocrinology, Fundacio de Gestio Sanitaria Hospital de la Santa Creu i Sant Pau, IR-SantPau and CIBERER Unit 747 (ISCIII), Barcelona, Spain
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D Yeste
D Yeste
Pediatric Endocrinology Service, Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. CIBER Enfermedades Raras, Instituto Carlos III, Madrid, Spain
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S F Ahmed
S F Ahmed
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
University of Glasgow, Office for Rare Conditions, Glasgow, UK
University of Glasgow, Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK
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University of Glasgow, Office for Rare Conditions, Glasgow, UK
University of Glasgow, Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK
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A M Pereira
A M Pereira
Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, Amsterdam, Noord-Holland, Netherlands
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international accreditation for the diagnosis and treatment of CS ( 16 ). To further map local practice patterns and associated VTE complications in CS, we performed a study across the European Reference Network on Rare Endocrine Conditions (Endo-ERN) expert
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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.N.). Acknowledgement This manuscript has been written in collaboration with the European Reference Network on rare endocrine conditions (EndoERN), specifically the main thematic groups MTG1 (adrenal) and MTG7 (sex development & maturation). Endo-ERN is funded by the
Hanna F Nowotny
Hanna F Nowotny
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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Jillian Bryce
Jillian Bryce
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Salma R Ali
Salma R Ali
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Roberta Giordano
Roberta Giordano
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy
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Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy
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Federico Baronio
Federico Baronio
Pediatric Unit, Department Hospital of Woman and Child, Endo-ERN Centre IT11, IRCSS AOU S.Orsola-Malpighi University Hospital, Bologna, Italy
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Irina Chifu
Irina Chifu
Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital of Wuerzburg, University of Wuerzburg, Wuerzburg, Germany
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Lea Tschaidse
Lea Tschaidse
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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Martine Cools
Martine Cools
Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium
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Erica LT van den Akker
Erica LT van den Akker
Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC - Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands
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Henrik Falhammar
Henrik Falhammar
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
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Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
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Natasha M Appelman-Dijkstra
Natasha M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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Luca Persani
Luca Persani
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, 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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Guglielmo Beccuti
Guglielmo Beccuti
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
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Ian L Ross
Ian L Ross
Division of Endocrinology, Department of Medicine, University of Cape Town, Cape Town, South Africa
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Simona Grozinsky-Glasberg
Simona Grozinsky-Glasberg
Neuroendocrine Tumor Unit, ENETS Center of Excellence, Department of Endocrinology and Metabolism, Hadassah Medical Organisation and Faculty of Medicine, the Hebrew University, Jerusalem, Israel
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Alberto M Pereira
Alberto M Pereira
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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Eystein S Husebye
Eystein S Husebye
Department of Clinical Science and KG Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medicine, Karolinska Institutet, Stockholm, Sweden
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Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medicine, Karolinska Institutet, Stockholm, Sweden
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Stefanie Hahner
Stefanie Hahner
Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital of Wuerzburg, University of Wuerzburg, Wuerzburg, Germany
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S Faisal Ahmed
S Faisal Ahmed
Office for Rare Conditions, University of Glasgow, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom
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Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom
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Nicole Reisch
Nicole Reisch
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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–2020) and supported by ENDO-ERN (European Reference Network on Rare Endocrine Conditions), European Society of Endocrinology (ESE) and European Society for Paediatric Endocrinology (ESPE) and is open to all centres across the world. Following a discussion
Johan G Beun
Johan G Beun
AdrenalNET, The Netherlands
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Pia Burman
Pia Burman
Department of Endocrinology, Skåne University Hospital, Lund University, Sweden
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Olle Kämpe
Olle Kämpe
Department of Medicine (Solna), Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Department of Endocrinology, Diabetes and Metabolism, Karolinska University Hospital, Stockholm, Sweden
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Department of Endocrinology, Diabetes and Metabolism, Karolinska University Hospital, Stockholm, Sweden
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Eystein S Husebye
Eystein S Husebye
Department of Clinical Science, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Stephanie Hahner
Stephanie Hahner
Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Germany
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Jette Kristensen
Jette Kristensen
Addison Foreningen i Danmark, Denmark
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Alida Noordzij
Alida Noordzij
AdrenalNET, The Netherlands
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Per Dahlqvist
Per Dahlqvist
Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden
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practitioners) published stress instructions to prevent adrenal crises, which were later adopted by the European Society of Endocrinology and the European Reference Network on rare endocrine conditions (Endo-ERN) ( 4 ). In addition, emergency injection ‘kits
Natacha Driessens
Natacha Driessens
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
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Madhu Prasai
Madhu Prasai
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
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Orsalia Alexopoulou
Orsalia Alexopoulou
Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium
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Christophe De Block
Christophe De Block
Department of Endocrinology-Diabetology-Metabolism, Universitair Ziekenhuis Antwerpen & University of Antwerp, Drie Eikenstraat, Edegem, Belgium
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Eva Van Caenegem
Eva Van Caenegem
Department of Endocrinology, Academisch Ziekenhuis Sint-Jan Brugge – Oostende AV, Ruddershove, Brugge, Belgium
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Guy T’Sjoen
Guy T’Sjoen
Department of Endocrinology, Ghent Universitary Hospital, C. Heymanslaan, Gent, Belgium
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Frank Nobels
Frank Nobels
Department of Endocrinology, Onze-Lieve Vrouw Ziekenhuis, Moorselbaan, Aalst, Belgium
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Christophe Ghys
Christophe Ghys
Department of Endocrinology, Universitair Ziekenhuis Brussel, Laarbeeklaan, Brussels, Belgium
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Laurent Vroonen
Laurent Vroonen
Department of Endocrinology, Cliniques Universitaires de Liège, Avenue de l’hôpital, Liège, Belgium
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Corinne Jonas
Corinne Jonas
Department of Endocrinology, CHU UCL Namur - Godinne, Avenue Docteur Gaston Thérasse, Yvoir, Belgium
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Bernard Corvilain
Bernard Corvilain
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
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Dominique Maiter
Dominique Maiter
Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium
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members of the MTG-1 Study Group of the European Reference Network for Rare Endocrine Disease, Endo-ERN. References 1 Bensing S Hulting AL Husebye ES Kämpe O & Løvås K . MANAGEMENT OF ENDOCRINE DISEASE: epidemiology, quality of life
Trine Holm Johannsen
Trine Holm Johannsen
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre 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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International Centre 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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Jakob Albrethsen
Jakob Albrethsen
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre 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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International Centre 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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Vassos Neocleous
Vassos Neocleous
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
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Federico Baronio
Federico Baronio
S. Orsola-Malpighi University Hospital, Department of Medical and Surgical Sciences, Bologna, Italy
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Martine Cools
Martine Cools
Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium
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Lise Aksglaede
Lise Aksglaede
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre 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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International Centre 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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Niels Jørgensen
Niels Jørgensen
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre 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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International Centre 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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Peter Christiansen
Peter Christiansen
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre 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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International Centre 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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Meropi Toumba
Meropi Toumba
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
Pediatric Endocrinology Clinic, Department of Pediatrics, Aretaeio Hospital, Nicosia, Cyprus
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Pediatric Endocrinology Clinic, Department of Pediatrics, Aretaeio Hospital, Nicosia, Cyprus
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Pavlos Fanis
Pavlos Fanis
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
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Marie Lindhardt Ljubicic
Marie Lindhardt Ljubicic
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre 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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International Centre 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
Anders Juul
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre 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, Denmark
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International Centre 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, Denmark
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speculated that INSL3 is a new candidate in the management of male patients with CAH, and therefore, the present study was commenced on the initiative of the European Reference Network on Rare Endocrine Conditions ( https://endo-ern.eu/ ). The aim of this
Susan M Webb
Susan M Webb
IIB-Sant Pau, Research Center for Pituitary Diseases, Barcelona, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
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Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
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Jette Kristensen
Jette Kristensen
ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark
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Anna Nordenström
Anna Nordenström
Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden
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Diana Vitali
Diana Vitali
ePAG & Chair SOD ITALIA - Italian Patients Organization for Septo Optic Dysplasia and other Neuroendocrine Conditions, Rome, Italy
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Vincent Amodru
Vincent Amodru
Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France
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Lenja Katharina Wiehe
Lenja Katharina Wiehe
EURORDIS - Rare Diseases Europe, Paris, France
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Matt Bolz-Johnson
Matt Bolz-Johnson
EURORDIS - Rare Diseases Europe, Paris, France
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-0385 . Declaration of interest The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of this review. Funding This publication has been supported by Endo-ERN, which is co-funded by the European
