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Huifei Sophia Zheng Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Jeffrey G Daniel Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Julia M Salamat Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Laci Mackay Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Chad D Foradori Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Robert J Kemppainen Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Satyanarayana R Pondugula Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Ya-Xiong Tao Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Chen-Che Jeff Huang Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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negative feedback from the hypothalamic–pituitary–adrenal (HPA) axis ( 2 ). Although GCs have non-genomic actions, they may still rapidly affect gene expression via different mechanisms such as mRNA destabilization and coactivator competition ( 3 , 4

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0064
Volume/Issue:
Volume 11: Issue 8
Open access
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 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 Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium

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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 Department of Endocrinology, Academisch Ziekenhuis Sint-Jan Brugge – Oostende AV, Ruddershove, Brugge, Belgium

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Guy T’Sjoen Department of Endocrinology, Ghent Universitary Hospital, C. Heymanslaan, Gent, Belgium

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Frank Nobels Department of Endocrinology, Onze-Lieve Vrouw Ziekenhuis, Moorselbaan, Aalst, Belgium

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Christophe Ghys Department of Endocrinology, Universitair Ziekenhuis Brussel, Laarbeeklaan, Brussels, Belgium

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Laurent Vroonen Department of Endocrinology, Cliniques Universitaires de Liège, Avenue de l’hôpital, Liège, Belgium

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Corinne Jonas Department of Endocrinology, CHU UCL Namur - Godinne, Avenue Docteur Gaston Thérasse, Yvoir, Belgium

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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 Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium

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,000 person–years Portugal ( 16 ) 278/ PAI Clinical characteristics, diagnostic workup and treatment of PAI, multicentre study of 12 hospitals 29.1% with inaugural adrenal crisis, incidence of adrenal crises 4.4 per 100,000 patient–years: 79% of

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0044
Volume/Issue:
Volume 12: Issue 6
Open access
Sofia Maria Lider Burciulescu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Monica Livia Gheorghiu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Andrei Muresan National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Iuliana Gherlan University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Attila Patocs Department of Laboratory Medicine and Molecular Genetics, Clinical Genetics and Endocrinology Laboratory, Semmelweis University National Institute of Oncology, Budapest, Hungary

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Corin Badiu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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frequently described in the syndromes of multiple endocrine neoplasia (MEN) type 2A and type 2B, in certain families with von Hippel–Lindau disease ( VHL ) or in patients with MAX and TMEM127 gene mutation ( 3 , 7 ). Not all bilateral PHEOs are

Article Type:
Research Article
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Adrenal
DOI:
https://doi.org/10.1530/EC-23-0466
Volume/Issue:
Volume 13: Issue 4
Open access
Avinaash Maharaj Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Ruth Kwong Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Jack Williams Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Christopher Smith Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Helen Storr Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Ruth Krone Birmingham Children’s Hospital, Birmingham, UK

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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 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 Department of Endocrinology, The Aga Khan University Hospital, Karachi, Pakistan

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Indraneel Banerjee Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK

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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 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 Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey

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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 Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Rathi Prasad Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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presence of concomitant adrenal disease. Details of thyroid disease reviewed included the presence of concomitant adrenal/nephrotic disease, diagnostic TSH and FT4 levels, and pathology identified on imaging. Where details were not given for each case

Article Type:
Review Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0250
Volume/Issue:
Volume 11: Issue 8
Open access
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
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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cytochromep450 family 21 subfamily A member 2 gene ( CYP21A2) , which leads to 21-hydroxylase deficiency (21-OHD) and may be life-threatening due to a reduced adrenal production of cortisol and aldosterone. The disturbance leads to an increased production of

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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
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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-hydroxylase deficiency (21-OHD) due to mutations in the 21-hydroxylase (CYP21A2) gene ( 62 ). Other virilising forms include 3β-hydroxysteroid dehydrogenase (3β-HSD) and 11β-hydroxylase (11β-OH) deficiencies associated with mutations in the HSD3B2 and CYP11B1

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Review Article
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Adrenal
DOI:
https://doi.org/10.1530/EC-23-0088
Volume/Issue:
Volume 13: Issue 2
Open access
Martin Wiegand MRC Biostatistics Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK

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David J Halsall Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Sarah L Cowan Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Kevin Taylor Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Robert J B Goudie MRC Biostatistics Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK

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Jacobus Preller Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Mark Gurnell Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
Wellcome–MRC Institute of Metabolic Science, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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, between 10 March 2020 and 13 May 2021 were eligible for inclusion. Diagnostic testing for SARS-CoV-2 at the hospital used either a real-time RT-PCR of the RdRp gene from a nasopharyngeal swab or the SAMBA II point-of-care test ( 18 ). We made use of

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Adrenal
DOI:
https://doi.org/10.1530/EC-22-0190
Volume/Issue:
Volume 11: Issue 11
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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enzymes responsible for cholesterol degradation ( 1 , 2 ). CAH is related in 90–95% of cases to mutations in the CYP21A2 gene, which modifies the activity of 21α-hydroxylase (21α-OH) ( 1 , 3 , 4 ), leading to a decrease in the conversion of

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Research Article
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DOI:
https://doi.org/10.1530/EC-23-0162
Volume/Issue:
Volume 12: Issue 12
Open access
Wenhao Lin Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Jun Dai Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Jialing Xie Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Jiacheng Liu Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Fukang Sun Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Xin Huang Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Wei He Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Chen Fang Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Juping Zhao Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Danfeng Xu Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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*Stat 8.3.9.2 software. The ACC diagnostic code (primary site code: 74.0/74.9, ICD-O-3 code: 8370/3) was used as the inclusion criterion. The exclusion criteria were the following: (i) with unknown TNM stage or T0 disease; (ii) with bilateral tumors or

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DOI:
https://doi.org/10.1530/EC-22-0114
Volume/Issue:
Volume 11: Issue 6
Open access