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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 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 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 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 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 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 Spanish Association of Congenital Adrenal Hyperplasia (CAH), Spain

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Jette Kristensen ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark

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Diana Kwast Dutch Adrenal Society NVACP, Nijkerk, The Netherlands

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Lea Tschaidse Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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Matthias K Auer Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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Hanna F Nowotny Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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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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Nicole Reisch Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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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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Introduction Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency occurs in around 1:10,000–1:15,000 newborns ( 1 , 2 , 3 , 4 , 5 ). It is caused by mutations in the CYP21A2 gene coding for the 21-OH enzyme

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Review Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0400
Volume/Issue:
Volume 12: Issue 4
Open access
Dafydd Aled Rees Cardiff University, Cardiff, United Kingdom

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Deborah P Merke National Institutes of Health Clinical Center and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA

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Wiebke Arlt MRC LMS, London, United Kingdom

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Aude Brac De La Perriere Hospices Civils de Lyon - GHE - Endocrinologie, Bron, France

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Angelica Linden Hirschberg Karolinska Institute, Solna, Sweden

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark, and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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John Newell-Price The University of Sheffield, Sheffield, United Kingdom

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Alessandro Prete University of Birmingham, Birmingham, United Kingdom

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Nicole Reisch Endokrinologie, Nephrologie und weitere Sektionen - Medizinische Klinik und Poliklinik IV - Campus Innenstadt, München, Germany

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Nike M Stikkelbroeck Radboud University Nijmegen, Nijmegen, Netherlands

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Philippe A Touraine University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France

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Alex Lewis Neurocrine Biosciences Inc, London, United Kingdom

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John Porter Neurocrine Biosciences Inc, London, United Kingdom

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Helen Coope Neurocrine Biosciences Inc, London, United Kingdom

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Richard J Ross The University of Sheffield, Sheffield, United Kingdom

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Introduction The control of congenital adrenal hyperplasia (CAH) is suboptimal on standard hydrocortisone replacement therapy because it does not control the overnight rise in adrenocorticotropic hormone (ACTH) that drives the production of

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Research Article
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Adrenal
DOI:
https://doi.org/10.1530/EC-24-0150
Volume/Issue:
Volume 13: Issue 8
Open access
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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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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Vassos Neocleous The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus

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Federico Baronio S. Orsola-Malpighi University Hospital, Department of Medical and Surgical Sciences, Bologna, Italy

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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 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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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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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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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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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 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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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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Introduction Congenital adrenal hyperplasia (CAH) is a recessive condition that affects the adrenal glands. The condition occurs in 1 out of 14–18,000 births worldwide ( 1 ). The most common form of CAH results from mutations in the

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Research Article
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Adrenal
DOI:
https://doi.org/10.1530/EC-23-0073
Volume/Issue:
Volume 12: Issue 8
Open access
Simone Martins de Castro Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Department of Analysis, Universidade Federal do Rio Grande do Sul (UFRGS), School of Pharmacy, Porto Alegre, RS, Brazil

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Paloma Wiest Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil

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Poli Mara Spritzer Division of Endocrinology, Department of Physiology, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil

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Cristiane Kopacek Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Medical School, Porto Alegre, RS, Brazil

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Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by inadequate cortisol secretion (with or without insufficient aldosterone production) and androgen excess, caused by deficiency in one of the

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Research Article
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Adrenal
DOI:
https://doi.org/10.1530/EC-23-0162
Volume/Issue:
Volume 12: Issue 12
Open access
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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Jette Kristensen ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark

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Anna Nordenström Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden

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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 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 EURORDIS - Rare Diseases Europe, Paris, France

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Matt Bolz-Johnson EURORDIS - Rare Diseases Europe, Paris, France

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are available ( 7 , 11 ). Neonatal screening may shorten the time to diagnosis for some diseases such as congenital adrenal hyperplasia and thereby prevent sequelae or neonatal death, in addition to the psychological aspects of avoiding diagnostic

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Review Article
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Adrenal
DOI:
https://doi.org/10.1530/EC-22-0385
Volume/Issue:
Volume 11: Issue 12
Open access
Rachel Forfar Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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Mashal Hussain Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK

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Puneet Khurana Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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Jennifer Cook Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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Steve Lewis Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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Dillon Popat Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK

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David Jackson Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK

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Ed McIver Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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Jeff Jerman Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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Debra Taylor Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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Adrian JL Clark Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK

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Li F Chan Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK

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excess ( 6 ). Conditions include Cushing’s disease where pituitary adenoma removal is unsuccessful, ectopic ACTH syndrome from tumours such as small cell lung cancers, and congenital adrenal hyperplasia (CAH) where ACTH drives excess androgen production

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Research Article
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DOI:
https://doi.org/10.1530/EC-22-0338
Volume/Issue:
Volume 11: Issue 12
Open access
Gregory Knowles Walsall Manor Hospital, Walsall, UK

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Emily Warmington College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK

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Lisa M Shepherd Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK

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Jonathan M Hazlehurst Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Institute of Applied Health Research, University of Birmingham, Birmingham, UK

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Anne de Bray Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK

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Helena Gleeson Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Wiebke Arlt Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Medical Research Council London Institute of Medical Sciences, London, UK

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Alessandro Prete Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
NIHR Birmingham Biomedical Research Centre, University of Birmingham and University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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autoimmune destruction of the adrenal cortex, and congenital adrenal hyperplasia (CAH), a group of autosomal recessive inborn disorders caused by enzyme deficiencies in adrenal steroidogenesis ( 2 ). PAI necessitates long-term glucocorticoid replacement, the

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DOI:
https://doi.org/10.1530/EC-23-0122
Volume/Issue:
Volume 12: Issue 8
Open access
Hanna F Nowotny Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany

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Jillian Bryce Office for Rare Conditions, University of Glasgow, Glasgow, UK

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Salma R Ali Office for Rare Conditions, University of Glasgow, Glasgow, UK

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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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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 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 Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany

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Martine Cools Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium

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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 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden

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Natasha M Appelman-Dijkstra Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands

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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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Guglielmo Beccuti Department of Clinical and Biological Sciences, University of Turin, Turin, Italy

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Ian L Ross Division of Endocrinology, Department of Medicine, University of Cape Town, Cape Town, South Africa

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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 Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands

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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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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 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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Nicole Reisch Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany

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patients were affected by primary AI (PAI) including 14 patients with Addison’s disease (AD), 9 with congenital adrenal hyperplasia (CAH) and 2 with other causes of PAI and 20 male patients (AD n  = 5, CAH n  = 10, other causes n  = 5), while 5 female

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DOI:
https://doi.org/10.1530/EC-22-0416
Volume/Issue:
Volume 12: Issue 4
Open access
Deirdre Green Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin

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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 Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin

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Mark Sherlock Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin

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replacement due to preservation of the renin-angiotensin aldosterone system. Patients with all forms of adrenal insufficiency also lack adrenal androgens (except patients with congenital adrenal hyperplasia (CAH)); however, studies of adrenal androgen

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Adrenal
DOI:
https://doi.org/10.1530/EC-23-0088
Volume/Issue:
Volume 13: Issue 2
Open access
Ditte Sofie Dahl Sørensen Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Jesper Krogh Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Åse Krogh Rasmussen Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Mikkel Andreassen Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Introduction Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme defects in the steroid biosynthesis of the adrenal cortex. In approximately 95% of cases, the disorder is caused by a pathogenic

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0143
Volume/Issue:
Volume 11: Issue 7
Open access