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Anne Bachelot Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

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Magaly Vialon Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Amandine Baptiste AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

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Isabelle Tejedor Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Caroline Elie AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

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Michel Polak Department of Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et Centre des pathologies gynécologiques Rares, Hôpital Universitaire Necker Enfants malades, Paris, France
Université Paris Descartes, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

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the CRMERC study group
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-mail or phone was then used to contact the patient. In the absence of answer after this procedure, a letter with information notice of the study and WHOQOL was sent to the patient. Transition was defined by the transfer from pediatric care to specialist

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0094
Volume/Issue:
Volume 6: Issue 7
Open access
Cecilia Lundin Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden

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Agota Malmborg Obstetrics and Gynaecology, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden

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Julia Slezak Clinical Chemistry, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden

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Kristina Gemzell Danielsson Department of Women’s and Children’s Health, Karolinska Institutet, and Karolinska University Hospital, Stockholm, Sweden

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Marie Bixo Department of Clinical Science, Obstetrics and Gynaecology, Umeå University, Umeå, Sweden

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Hanna Bengtsdotter Department of Obstetrics and Gynaecology, Örebro University, Örebro, Sweden

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Lena Marions Department of Clinical Science and Education, Karolinska Institutet Södersjukhuset, Stockholm, Sweden

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Ingela Lindh Department of Obstetrics and Gynaecology, Sahlgrenska Academy at Gothenburg University, Sahlgrenska University Hospital, Gothenburg, Sweden

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Elvar Theodorsson Clinical Chemistry, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden

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Mats Hammar Obstetrics and Gynaecology, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden

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Inger Sundström-Poromaa Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden

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designed to measure aspects of female sexuality likely to be affected by changing hormone levels ( 14 ). The questionnaire assesses sexual function during the past 4 weeks and consists of 19 questions, 18 answered using a 7-point Likert scale, where 1

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0384
Volume/Issue:
Volume 7: Issue 11
Open access
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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Iacopo Chiodini IRCCS, Istituto Auxologico Italiano, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Richard A Feelders Division of Endocrinology, Erasmus Medical Centre, Rotterdam, Netherlands

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Cornelie D Andela Division of Endocrinology and Centre for Endocrine Tumours, Leiden University Medical Centre, Leiden, Netherlands

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Margueritta Abou-Hanna HRA Pharma Rare Diseases, Châtillon, France

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Sarah Idres HRA Pharma Rare Diseases, Châtillon, France

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Antoine Tabarin Department of Endocrinology and INSERM U862 University and CHU of Bordeaux, Pessac, France

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analysis All responses and answers were collected, coded and analysed using Microsoft Excel. Data preparation involved removing duplicate answers, or where possible analysing and reclassifying qualitative responses reported as ‘other’, based on the

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0027
Volume/Issue:
Volume 11: Issue 7
Open access
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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and answered a patient reported outcome questionnaire. The participation rate was 36.1% of those contacted, the genetic diagnosis rate was 78.6% of the total and 55.6% of those with non-sex chromosome DSD, the patient reported outcome questionnaire

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0031
Volume/Issue:
Volume 7: Issue 3
Open access
Salem A Beshyah Department of Medicine, Dubai Medical College, Dubai, United Arab Emirates
Diabetes and Endocrine Clinic, Mediclinic Airport Road Hospital, Abu Dhabi, United Arab Emirates

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Khawla F Ali Department of Medicine, Royal College of Surgeons in Ireland Medical University of Bahrain, Adliya, Bahrain

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Hussein F Saadi Department of Endocrinology, Medical Subspecialties Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates

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respondents consented to participate, with 145 providing adequate responses for inclusion in the analysis and formed the basis of this study. No data were captured on non-consenting respondents nor those who did not provide reasonably complete answers. The

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0314
Volume/Issue:
Volume 9: Issue 8
Open access
Violeta Iotova Department of Pediatrics, Medical University of Varna, Varna, Bulgaria

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Camilla Schalin-Jäntti Department of Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Charlotte Van Beuzekom Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, the Netherlands

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Petra Bruegmann Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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Manuela Broesamle Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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Olaf Hiort Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany

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Alberto M Pereira Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, the Netherlands

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closing remarks. The Endo-ERN PM acted as a host to every webinar in order to facilitate the process of answering questions and to tackle potential technical issues as well as to look after interactivity and participants' engagement. The first webinar

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0512
Volume/Issue:
Volume 12: Issue 9
Open access
Richard J Auchus Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA
Department of Pharmacology, University of Michigan, Ann Arbor, Michigan, USA
Veterans Affairs Medical Center, Ann Arbor, Michigan, USA

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ethical answer is to decline. Many of these patients who are duped into hormone doping suffer from fatigue, unrealistic expectations, and false perceptions of reality, thanks to the demands and vices of modern society. Poor sleep, reliance on heavily

Article Type:
Article Commentary
DOI:
https://doi.org/10.1530/EC-21-0039
Volume/Issue:
Volume 10: Issue 9
Open access
Régis Coutant Department of Pediatric Endocrinology and Diabetology, Reference Center for Rare Pituiatry Diseases, University Hospital of Angers, Angers, France

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Maithé Tauber Reference Center for the Prader-Willi syndrome and other rare obesities with feeding disorders (PRADORT), Children Hospital, CHU Toulouse, Toulouse, France
Pediatric team of the Clinical Investigation Center 9302/INSERM, Hospital of Children, Toulouse, France
Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), INSERM UMR1291 - CNRS UMR5051 - Université Toulouse III, Toulouse, France

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Béatrice Demaret GRANDIR - French Growth Disorders Association, Asnières-sur-Seine, France

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Robin Henocque Pfizer France, Paris France

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Yves Brault Pfizer France, Paris France

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François Montestruc eXYSTAT, Malakoff, France

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Olivier Chassany Health Economics Clinical Trial Unit (URC-ECO), Hospital of Hotel-Dieu, AP-HP, Paris, France
Patient-Reported Outcomes Unit (PROQOL), UMR 1123, University Paris Cité, INSERM, Paris, France

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Michel Polak Hôpital Universitaire Necker Enfants Malades, Pediatric Endocrinology, Gynecology and Diabetology, Imagine Institute, INSERM U1163, Cochin Institute, INSERM U1016, Centre de référence des pathologies endocriniennes rares de la croissance et du développement, Université de Paris Cité, Paris, France

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the QOLITHOR Study Group
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the QOLITHOR Study Group

.9%) 23 (25.3%) 43 (15.6%) 6 (13.6%) 8 (11.6%) 18 (34.0%) 32 (19.3%) Current occupation of the answering parent/caregiver, n (%)  Professional activity 59 (96.7%) 79 (92.9%) 66 (88.0%) 204 (92.3%) 36 (97

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0464
Volume/Issue:
Volume 12: Issue 4
Open access
Salma R Ali Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK

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Melissa Gardner Susan B Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA

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Yiqiao Xin Health Economics and Health Technology Assessment, Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK

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Stuart O’Toole Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Martyn Flett Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Boma Lee Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Mairi Steven Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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David E Sandberg Susan B Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA

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S Faisal Ahmed Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK

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answer the following questions while thinking about the present, even if your responses might have been very different in the past. G29. My child’s doctors are knowledgeable about my child’s condition 0.68 G30. I feel overwhelmed by the

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-24-0300
Volume/Issue:
Volume 13: Issue 11
Open access
Marília D’Elboux Guimarães Brescia Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Karine Candido Rodrigues Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Endocrine Oncology Division, Institute of Cancer of the State of São Paulo (ICESP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, São Paulo, Brazil

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André Fernandes d’Alessandro Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Wellington Alves Filho Department of Surgery, Walter Cantidio University Hospital, Federal University of Ceara School of Medicine (FAMED-UFC), Fortaleza, Brazil

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Willemijn Y van der Plas Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

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Schelto Kruijff Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

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Sergio Samir Arap Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Sergio Pereira de Almeida Toledo Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil

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Fábio Luiz de Menezes Montenegro Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Delmar Muniz Lourenço Jr Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Endocrine Oncology Division, Institute of Cancer of the State of São Paulo (ICESP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, São Paulo, Brazil

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with not confirmed germline MEN1 mutation, those who failed to answer the QoL questionnaire at any scheduled moment, cases submitted to less than SPTx, and cases with previous anterior cervical exploration, including PTx or thyroidectomy. We

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-22-0021
Volume/Issue:
Volume 11: Issue 6
Open access