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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

Article Type:
Review Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0400
Volume/Issue:
Volume 12: Issue 4
Open access
Qiuli Liu Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Lin-ang Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Jian Su Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China

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Dali Tong Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Weihua Lan Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Luofu Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Gaolei Liu Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Jun Zhang Department of Obstetrics, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People’s Republic of China

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Victor Wei Zhang Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
AmCare Genomics Lab, Guangzhou, People’s Republic of China

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Dianzheng Zhang Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA

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Rongrong Chen Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Qingyi Zhu Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China

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Jun Jiang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Introduction Congenital adrenal hyperplasia (CAH) is one of the most severe disorders of metabolism with an overall incidence of approximately 1:15,000 worldwide ( 1 ). CAH encompasses a group of enzymatic deficiencies of cortisol synthesis

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0273
Volume/Issue:
Volume 7: Issue 11
Open access
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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’ ( 1 ). Congenital adrenal hyperplasia (CAH) is a lifelong condition. CAH is classified according to symptoms, age of presentation and genetics and is usually divided into two forms: the classic or severe form and the non-classic form ( 2 ). Pediatric

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0094
Volume/Issue:
Volume 6: Issue 7
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

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-24-0150
Volume/Issue:
Volume 13: Issue 8
Open access
Ingeborg Brønstad Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Lars Breivik Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Paal Methlie Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Anette S B Wolff Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Eirik Bratland Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Ingrid Nermoen Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Kristian Løvås Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Eystein S Husebye Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Azziz R Baskin LS Ghizzoni L Hensle TW Merke DP Meyer-Bahlburg HF Miller WL Montori VM Oberfield SE . Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0032
Volume/Issue:
Volume 3: Issue 2
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

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0162
Volume/Issue:
Volume 12: Issue 12
Open access
Stefan Riedl Division of Pediatric Pulmology, Allergology and Endocrinology, Department of Pediatrics, Medical University of Vienna, Vienna, Austria
Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, Vienna, Austria

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Friedrich-Wilhelm Röhl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Germany

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Walter Bonfig Department of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria

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Jürgen Brämswig Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany

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Annette Richter-Unruh Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany

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Susanne Fricke-Otto Department of Pediatrics, Pediatric Endocrinology, Helios Klinikum Krefeld, Krefeld, Germany

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Markus Bettendorf Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany

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Felix Riepe Pediatric Endocrinology, Kronshagen, Kiel, Germany

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Gernot Kriegshäuser Institute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Steyr, Austria

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Eckhard Schönau Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany

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Gertrud Even Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany

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Berthold Hauffa Department of Pediatric Endocrinology, University of Duisburg-Essen, Essen, Germany

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Helmuth-Günther Dörr Department of Pediatrics, Pediatric Endocrinology, Friedrich Alexander Universität Erlangen, Erlangen, Germany

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Reinhard W Holl Institute of Epidemiology and Medical Biometry (ZIBMT), University of Ulm, Ulm, Germany

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Klaus Mohnike Department of Pediatrics, Pediatric Endocrinology, Otto von Guericke Universität Magdeburg, Magdeburg, Germany

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the AQUAPE CAH Study Group
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Introduction Congenital adrenal hyperplasia (CAH; incidence 1 in 10–15,000) due to 21-hydroxylase deficiency (21-OH) ( CYP21A2 ; OMIM 201910) is an autosomal recessive disorder resulting in a deficient production of the steroid hormones

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0281
Volume/Issue:
Volume 8: Issue 2
Open access
Heike Hoyer-Kuhn Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

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Angela Huebner Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany

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Anette Richter-Unruh University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany

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Markus Bettendorf University Children’s Hospital Heidelberg, Heidelberg, Germany

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Tilman Rohrer University Children’s Hospital Homburg, Homburg, Germany

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Klaus Kapelari University Children’s Hospital Innsbruck, Innsbruck, Austria

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Stefan Riedl Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria

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Klaus Mohnike Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Helmuth-Günther Dörr University Children’s Hospital Erlangen, Erlangen, Germany

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Friedrich-Wilhelm Roehl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Katharina Fink Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Reinhard W Holl Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Joachim Woelfle University Children’s Hospital Erlangen, Erlangen, Germany

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Introduction Classic congenital adrenal hyperplasia (CAH) is a hereditary autosomal recessive condition affecting adrenal steroidogenesis. Most of the cases (90–95%) are caused by mutations in the 21-hydroxylase gene ( CYP21A2 ) leading to

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0023
Volume/Issue:
Volume 10: Issue 5
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

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0073
Volume/Issue:
Volume 12: Issue 8
Open access
Muriel Houang Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France

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Thao Nguyen-Khoa Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France

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Thibaut Eguether Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

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Bettina Ribault Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

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Séverine Brabant Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France

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Michel Polak Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

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Irène Netchine Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France

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Antonin Lamazière Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

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Introduction The newborn screening program (NBS) for congenital adrenal hyperplasia (CAH) presents a number of issues in the context of the prevention of life-threatening salt wasting crises and subsequent collapse. This neonatal period is

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0101
Volume/Issue:
Volume 11: Issue 6
Open access