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Avinaash Maharaj
Avinaash Maharaj
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Kwong
Ruth Kwong
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Jack Williams
Jack Williams
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Christopher Smith
Christopher Smith
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Helen Storr
Helen Storr
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Krone
Ruth Krone
Birmingham Children’s Hospital, Birmingham, UK
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Debora Braslavsky
Debora Braslavsky
Centro de Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) – CONICET – FEI – División de Endocrinología, Hospital de Niños ‘Ricardo Gutiérrez’, Buenos Aires, Argentina
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Maria Clemente
Maria Clemente
Paediatric Endocrinology, Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
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Nanik Ram
Nanik Ram
Department of Endocrinology, The Aga Khan University Hospital, Karachi, Pakistan
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Indraneel Banerjee
Indraneel Banerjee
Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK
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Semra Çetinkaya
Semra Çetinkaya
Health Sciences University, Dr. Sami Ulus Obstetrics and Gynaecology, Children’s Health and Disease Education and Research Hospital, Ankara, Turkey
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Federica Buonocore
Federica Buonocore
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Tülay Güran
Tülay Güran
Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey
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John C Achermann
John C Achermann
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Louise Metherell
Louise Metherell
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Rathi Prasad
Rathi Prasad
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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hypothyroidism, primary gonadal insufficiency, lymphopenia and dyslipidaemia are reported, although not universally present in affected individuals ( Fig. 1 ). In its most severe form, the condition results in fetal hydrops. Morbidity is significant and mortality
Ida Staby
Ida Staby
Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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Jesper Krogh
Jesper Krogh
Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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Marianne Klose
Marianne Klose
Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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Jonas Baekdal
Jonas Baekdal
Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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Ulla Feldt-Rasmussen
Ulla Feldt-Rasmussen
Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark
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Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark
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Lars Poulsgaard
Lars Poulsgaard
Department of Neurosurgery, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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Jacob Bertram Springborg
Jacob Bertram Springborg
Department of Neurosurgery, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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Mikkel Andreassen
Mikkel Andreassen
Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark
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Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark
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prolactinomas had surgery due to dopamine agonist-resistant tumours. Figure 1 Summary of patients evaluated both pre- and post-surgery for each of the three investigated axes (adrenal axis, thyroid axis and gonad axis). AI, adrenal insufficiency; NFPAs
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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Introduction Adrenal insufficiency (AI) is characterised by inadequate adrenal corticosteroid hormone production and is classified as primary, secondary or tertiary ( 1 ). Primary adrenal insufficiency (PAI) is caused by pathological processes
Isabelle Flechtner
Isabelle Flechtner
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Magali Viaud
Magali Viaud
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Dulanjalee Kariyawasam
Dulanjalee Kariyawasam
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Marie Perrissin-Fabert
Marie Perrissin-Fabert
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Maud Bidet
Maud Bidet
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Anne Bachelot
Anne Bachelot
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Philippe Touraine
Philippe Touraine
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Philippe Labrune
Philippe Labrune
Department of Pediatrics, APHP, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, Hopital Antoine Béclère and Paris Sud University, Clamart, France
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Pascale de Lonlay
Pascale de Lonlay
Reference Center of Inherited Metabolic Diseases, Université de Paris, Necker Enfants Malades, University Hospital, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Michel Polak
Michel Polak
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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I et al . Fertility in adult women with classic galactosemia and primary ovarian insufficiency . Fertility and Sterility 2017 108 168 – 174 . ( https://doi.org/10.1016/j.fertnstert.2017.05.013 ) 29 Gubbels CS Kuppens SMI Bakker JA
Elinor Chelsom Vogt
Elinor Chelsom Vogt
Department of Clinical Science, University of Bergen, Bergen, Norway
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Francisco Gómez Real
Francisco Gómez Real
Department of Clinical Science, University of Bergen, Bergen, Norway
Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen, Norway
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Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen, Norway
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Eystein Sverre Husebye
Eystein Sverre Husebye
Department of Clinical Science, University of Bergen, Bergen, Norway
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Sigridur Björnsdottir
Sigridur Björnsdottir
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
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Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
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Bryndis Benediktsdottir
Bryndis Benediktsdottir
Medical Faculty, University of Iceland, Reykjavik, Iceland
Department of Sleep, Landspitali University Hospital Reykjavík, Reykjavik, Iceland
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Department of Sleep, Landspitali University Hospital Reykjavík, Reykjavik, Iceland
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Randi Jacobsen Bertelsen
Randi Jacobsen Bertelsen
Department of Clinical Science, University of Bergen, Bergen, Norway
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Pascal Demoly
Pascal Demoly
University Hospital of Montpellier, IDESP, Univ Montpellier-Inserm, Montpellier, France
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Karl Anders Franklin
Karl Anders Franklin
Department of Surgical and Perioperative Sciences, Surgery, Umeå University, Umeå, Sweden
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Leire Sainz de Aja Gallastegui
Leire Sainz de Aja Gallastegui
Unit of Epidemiology and Public Health, Department of Health, Basque Government, Vitoria-Gasteiz, Spain
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Francisco Javier Callejas González
Francisco Javier Callejas González
Department of Respiratory Medicine, Albacete University Hospital, Albacete, Spain
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Joachim Heinrich
Joachim Heinrich
Institute and Clinic for Occupational, Social and Environmental Medicine, University Hospital, LMU Munich, Munich, Germany
Allergy and Lung Health Unit, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia
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Allergy and Lung Health Unit, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia
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Mathias Holm
Mathias Holm
Occupational and Environmental Medicine, School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
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Nils Oscar Jogi
Nils Oscar Jogi
Department of Clinical Science, University of Bergen, Bergen, Norway
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Benedicte Leynaert
Benedicte Leynaert
Université Paris-Saclay, Inserm U1018, Center for Epidemiology and Population Health, Integrative Respiratory Epidemiology Team, Villejuif, France
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Eva Lindberg
Eva Lindberg
Department of Medical Sciences, Respiratory, Allergy and Sleep Medicine, Uppsala University, Uppsala, Sweden
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Andrei Malinovschi
Andrei Malinovschi
Department of Medical Sciences, Clinical Physiology, Uppsala University, Uppsala, Sweden
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Jesús Martínez-Moratalla
Jesús Martínez-Moratalla
Pneumology Service of the General University Hospital of Albacete, Albacete, Spain
Albacete Faculty of Medicine, Castilla-La Mancha University, Albacete, Spain
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Albacete Faculty of Medicine, Castilla-La Mancha University, Albacete, Spain
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Raúl Godoy Mayoral
Raúl Godoy Mayoral
Department of Respiratory Medicine, Albacete University Hospital, Albacete, Spain
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Anna Oudin
Anna Oudin
Section of Sustainable Health, Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden
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Antonio Pereira-Vega
Antonio Pereira-Vega
Juan Ramón Jiménez University Hospital in Huelva, Huelva, Spain
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Chantal Raherison Semjen
Chantal Raherison Semjen
INSERM, EpiCene Team U1219, University of Bordeaux, Talence, France
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Vivi Schlünssen
Vivi Schlünssen
Department of Public Health, Environment, Work and Health, Danish Ramazzini Centre, Aarhus University, Aarhus, Denmark
The National Research Center for the Working Environment, Copenhagen, Denmark
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The National Research Center for the Working Environment, Copenhagen, Denmark
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Kai Triebner
Kai Triebner
Department of Clinical Science, University of Bergen, Bergen, Norway
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Marianne Øksnes
Marianne Øksnes
Department of Clinical Science, University of Bergen, Bergen, Norway
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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hypoestrogenism. If the deficiency is located in the ovary, it is referred to as primary ovarian insufficiency (POI), characterized by low estradiol levels promoting high follicle-stimulating hormone (FSH) levels, due to lack of negative feedback ( 9 ). Early
Ruth Percik
Ruth Percik
Institute of Endocrinology, Diabetes and Metabolism, Sheba Medical Centre, Ramat Gan, Israel
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Sherwin Criseno
Sherwin Criseno
Department of Endocrinology, University Hospital Birmingham, Birmingham, UK
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Safwaan Adam
Safwaan Adam
Department of Endocrinology, The Christie NHS Foundation Trust, Manchester, UK
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Kate Young
Kate Young
Royal Marsden Hospital, London, UK
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Daniel L Morganstein
Daniel L Morganstein
Department of Endocrinology, Chelsea and Westminster Hospital, London, UK
Royal Marsden Hospital, London, UK
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Royal Marsden Hospital, London, UK
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recovery of thyroid and gonadal axis in some patients, necessitating re-testing over time, ACTH deficiency is mostly permanent ( 19 ). Although primary adrenal insufficiency is rare, if the ACTH or renin level was elevated then mineralocorticoid replacement
Mikkel Andreassen
Mikkel Andreassen
Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Anders Juul
Anders Juul
Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Ulla Feldt-Rasmussen
Ulla Feldt-Rasmussen
Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Niels Jørgensen
Niels Jørgensen
Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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axis as the most frequently affected axis, followed by the gonadal axis, the thyroid axis and the adrenal axis ( 5 , 23 ). As a novel observation, our data point to the possibility that in case of partial pituitary insufficiency spermatogenesis seems
A Bergougnoux
A Bergougnoux
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
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L Gaspari
L Gaspari
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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M Soleirol
M Soleirol
Département de Pediatrie, CHU Nîmes, France, Université de Montpellier Faculté de Médecine Montpellier-Nîmes, Montpellier, France
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N Servant
N Servant
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
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S Soskin
S Soskin
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
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S Rossignol
S Rossignol
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
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K Wagner-Mahler
K Wagner-Mahler
Département de Pédiatrie, CHU Nice, Hôpitaux Pédiatriques de Nice CHU-Lenval, Nice, France
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J Bertherat
J Bertherat
Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Université Paris Cité, Institut Cochin, Assitance Publique-Hôpitaux de Paris, Paris, France
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C Sultan
C Sultan
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
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N Kalfa
N Kalfa
Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France
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F Paris
F Paris
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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Comments Pathology analysis in case of gonadectomy 1 17 B1P5, primary amenorrhea, hirsutism (FG 18), acne, clitoromegaly Yes 10.4 LH: 16.4, FSH: 58.3 ND ND Partial testicular dysgenesis, Right gonadal seminoma 2 14
Pamela Stratton
Pamela Stratton
Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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Neelam Giri
Neelam Giri
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
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Sonia Bhala
Sonia Bhala
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
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Martha M Sklavos
Martha M Sklavos
Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA
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Blanche P Alter
Blanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
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Sharon A Savage
Sharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
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Ligia A Pinto
Ligia A Pinto
Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA
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postpubertal males with FA and DC/TBD, similar to the results in females. This AMH deficiency could be a primary gonadal defect or a consequence of the pathophysiology of the syndromes. Fertility may be impaired in males with FA as it is in females with FA, but
Frederic Schrøder Arendrup
Frederic Schrøder Arendrup
Department of Neurology, Danish Headache Center, Rigshospitalet, University of Copenhagen, Denmark
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Severine Mazaud-Guittot
Severine Mazaud-Guittot
Inserm (Institut National de la Santé et de la Recherche Médicale), Irset – Inserm, UMR 1085, Rennes, France
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Bernard Jégou
Bernard Jégou
Inserm (Institut National de la Santé et de la Recherche Médicale), Irset – Inserm, UMR 1085, Rennes, France
EHESP-School of Public Health, Rennes, France
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EHESP-School of Public Health, Rennes, France
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David Møbjerg Kristensen
David Møbjerg Kristensen
Department of Neurology, Danish Headache Center, Rigshospitalet, University of Copenhagen, Denmark
Inserm (Institut National de la Santé et de la Recherche Médicale), Irset – Inserm, UMR 1085, Rennes, France
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Inserm (Institut National de la Santé et de la Recherche Médicale), Irset – Inserm, UMR 1085, Rennes, France
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) 10.1038/nature11709 23151479 46 Cox L Liu JH. Primary ovarian insufficiency: an update . International Journal of Women’s Health 2014 6 235 – 243 . ( https://doi.org/10.2147/IJWH.S37636 ) 24591848 47 Graham Garry G Scott Kieran F
