Search Results
Annelies van’t Westeinde
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
Search for other papers by Annelies van’t Westeinde in
Google Scholar
PubMed
Search for other papers by Annelies van’t Westeinde in
Google Scholar
PubMed
Leif Karlsson
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
Search for other papers by Leif Karlsson in
Google Scholar
PubMed
Search for other papers by Leif Karlsson in
Google Scholar
PubMed
Valeria Messina
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
Search for other papers by Valeria Messina in
Google Scholar
PubMed
Search for other papers by Valeria Messina in
Google Scholar
PubMed
Lena Wallensteen
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
Search for other papers by Lena Wallensteen in
Google Scholar
PubMed
Search for other papers by Lena Wallensteen in
Google Scholar
PubMed
Manuela Brösamle
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
Search for other papers by Manuela Brösamle in
Google Scholar
PubMed
Search for other papers by Manuela Brösamle in
Google Scholar
PubMed
Giorgio Dal Maso
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
Search for other papers by Giorgio Dal Maso in
Google Scholar
PubMed
Search for other papers by Giorgio Dal Maso in
Google Scholar
PubMed
Alessandro Lazzerini
Alessandro Lazzerini
Spanish Association of Congenital Adrenal Hyperplasia (CAH), Spain
Search for other papers by Alessandro Lazzerini in
Google Scholar
PubMed
Search for other papers by Alessandro Lazzerini in
Google Scholar
PubMed
Jette Kristensen
Jette Kristensen
ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark
Search for other papers by Jette Kristensen in
Google Scholar
PubMed
Search for other papers by Jette Kristensen in
Google Scholar
PubMed
Diana Kwast
Diana Kwast
Dutch Adrenal Society NVACP, Nijkerk, The Netherlands
Search for other papers by Diana Kwast in
Google Scholar
PubMed
Search for other papers by Diana Kwast in
Google Scholar
PubMed
Lea Tschaidse
Lea Tschaidse
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Lea Tschaidse in
Google Scholar
PubMed
Search for other papers by Lea Tschaidse in
Google Scholar
PubMed
Matthias K Auer
Matthias K Auer
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Matthias K Auer in
Google Scholar
PubMed
Search for other papers by Matthias K Auer in
Google Scholar
PubMed
Hanna F Nowotny
Hanna F Nowotny
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Hanna F Nowotny in
Google Scholar
PubMed
Search for other papers by Hanna F Nowotny in
Google Scholar
PubMed
Luca Persani
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
Search for other papers by Luca Persani in
Google Scholar
PubMed
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Nicole Reisch
Nicole Reisch
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Nicole Reisch in
Google Scholar
PubMed
Search for other papers by Nicole Reisch in
Google Scholar
PubMed
Svetlana Lajic
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
Search for other papers by Svetlana Lajic in
Google Scholar
PubMed
Search for other papers by Svetlana Lajic in
Google Scholar
PubMed
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
Qiuli Liu
Qiuli Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Qiuli Liu in
Google Scholar
PubMed
Search for other papers by Qiuli Liu in
Google Scholar
PubMed
Lin-ang Wang
Lin-ang Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Lin-ang Wang in
Google Scholar
PubMed
Search for other papers by Lin-ang Wang in
Google Scholar
PubMed
Jian Su
Jian Su
Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China
Search for other papers by Jian Su in
Google Scholar
PubMed
Search for other papers by Jian Su in
Google Scholar
PubMed
Dali Tong
Dali Tong
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Dali Tong in
Google Scholar
PubMed
Search for other papers by Dali Tong in
Google Scholar
PubMed
Weihua Lan
Weihua Lan
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Weihua Lan in
Google Scholar
PubMed
Search for other papers by Weihua Lan in
Google Scholar
PubMed
Luofu Wang
Luofu Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Luofu Wang in
Google Scholar
PubMed
Search for other papers by Luofu Wang in
Google Scholar
PubMed
Gaolei Liu
Gaolei Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Gaolei Liu in
Google Scholar
PubMed
Search for other papers by Gaolei Liu in
Google Scholar
PubMed
Jun Zhang
Jun Zhang
Department of Obstetrics, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People’s Republic of China
Search for other papers by Jun Zhang in
Google Scholar
PubMed
Search for other papers by Jun Zhang in
Google Scholar
PubMed
Victor Wei Zhang
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
Search for other papers by Victor Wei Zhang in
Google Scholar
PubMed
AmCare Genomics Lab, Guangzhou, People’s Republic of China
Search for other papers by Victor Wei Zhang in
Google Scholar
PubMed
Dianzheng Zhang
Dianzheng Zhang
Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA
Search for other papers by Dianzheng Zhang in
Google Scholar
PubMed
Search for other papers by Dianzheng Zhang in
Google Scholar
PubMed
Rongrong Chen
Rongrong Chen
Geneplus-Beijing Institute, Beijing, People’s Republic of China
Search for other papers by Rongrong Chen in
Google Scholar
PubMed
Search for other papers by Rongrong Chen in
Google Scholar
PubMed
Qingyi Zhu
Qingyi Zhu
Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China
Search for other papers by Qingyi Zhu in
Google Scholar
PubMed
Search for other papers by Qingyi Zhu in
Google Scholar
PubMed
Jun Jiang
Jun Jiang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Jun Jiang in
Google Scholar
PubMed
Search for other papers by Jun Jiang in
Google Scholar
PubMed
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
Dafydd Aled Rees
Dafydd Aled Rees
Cardiff University, Cardiff, United Kingdom
Search for other papers by Dafydd Aled Rees in
Google Scholar
PubMed
Search for other papers by Dafydd Aled Rees in
Google Scholar
PubMed
Deborah P Merke
Deborah P Merke
National Institutes of Health Clinical Center and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA
Search for other papers by Deborah P Merke in
Google Scholar
PubMed
Search for other papers by Deborah P Merke in
Google Scholar
PubMed
Wiebke Arlt
Wiebke Arlt
MRC LMS, London, United Kingdom
Search for other papers by Wiebke Arlt in
Google Scholar
PubMed
Search for other papers by Wiebke Arlt in
Google Scholar
PubMed
Aude Brac De La Perriere
Aude Brac De La Perriere
Hospices Civils de Lyon - GHE - Endocrinologie, Bron, France
Search for other papers by Aude Brac De La Perriere in
Google Scholar
PubMed
Search for other papers by Aude Brac De La Perriere in
Google Scholar
PubMed
Angelica Linden Hirschberg
Angelica Linden Hirschberg
Karolinska Institute, Solna, Sweden
Search for other papers by Angelica Linden Hirschberg in
Google Scholar
PubMed
Search for other papers by Angelica Linden Hirschberg in
Google Scholar
PubMed
Anders Juul
Anders Juul
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark, and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
Search for other papers by Anders Juul in
Google Scholar
PubMed
John Newell-Price
John Newell-Price
The University of Sheffield, Sheffield, United Kingdom
Search for other papers by John Newell-Price in
Google Scholar
PubMed
Search for other papers by John Newell-Price in
Google Scholar
PubMed
Alessandro Prete
Alessandro Prete
University of Birmingham, Birmingham, United Kingdom
Search for other papers by Alessandro Prete in
Google Scholar
PubMed
Search for other papers by Alessandro Prete in
Google Scholar
PubMed
Nicole Reisch
Nicole Reisch
Endokrinologie, Nephrologie und weitere Sektionen - Medizinische Klinik und Poliklinik IV - Campus Innenstadt, München, Germany
Search for other papers by Nicole Reisch in
Google Scholar
PubMed
Search for other papers by Nicole Reisch in
Google Scholar
PubMed
Nike M Stikkelbroeck
Nike M Stikkelbroeck
Radboud University Nijmegen, Nijmegen, Netherlands
Search for other papers by Nike M Stikkelbroeck in
Google Scholar
PubMed
Search for other papers by Nike M Stikkelbroeck in
Google Scholar
PubMed
Philippe A Touraine
Philippe A Touraine
University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France
Search for other papers by Philippe A Touraine in
Google Scholar
PubMed
Search for other papers by Philippe A Touraine in
Google Scholar
PubMed
Alex Lewis
Alex Lewis
Neurocrine Biosciences Inc, London, United Kingdom
Search for other papers by Alex Lewis in
Google Scholar
PubMed
Search for other papers by Alex Lewis in
Google Scholar
PubMed
John Porter
John Porter
Neurocrine Biosciences Inc, London, United Kingdom
Search for other papers by John Porter in
Google Scholar
PubMed
Search for other papers by John Porter in
Google Scholar
PubMed
Helen Coope
Helen Coope
Neurocrine Biosciences Inc, London, United Kingdom
Search for other papers by Helen Coope in
Google Scholar
PubMed
Search for other papers by Helen Coope in
Google Scholar
PubMed
Richard J Ross
Richard J Ross
The University of Sheffield, Sheffield, United Kingdom
Search for other papers by Richard J Ross in
Google Scholar
PubMed
Search for other papers by Richard J Ross in
Google Scholar
PubMed
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
Anne Bachelot
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
Search for other papers by Anne Bachelot in
Google Scholar
PubMed
UPMC Univ, Paris, France
Search for other papers by Anne Bachelot in
Google Scholar
PubMed
Magaly Vialon
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
Search for other papers by Magaly Vialon in
Google Scholar
PubMed
Search for other papers by Magaly Vialon in
Google Scholar
PubMed
Amandine Baptiste
Amandine Baptiste
AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France
Search for other papers by Amandine Baptiste in
Google Scholar
PubMed
Search for other papers by Amandine Baptiste in
Google Scholar
PubMed
Isabelle Tejedor
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
Search for other papers by Isabelle Tejedor in
Google Scholar
PubMed
Search for other papers by Isabelle Tejedor in
Google Scholar
PubMed
Caroline Elie
Caroline Elie
AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France
Search for other papers by Caroline Elie in
Google Scholar
PubMed
Search for other papers by Caroline Elie in
Google Scholar
PubMed
Michel Polak
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
Search for other papers by Michel Polak in
Google Scholar
PubMed
Université Paris Descartes, Paris, France
Search for other papers by Michel Polak in
Google Scholar
PubMed
Philippe Touraine
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
Search for other papers by Philippe Touraine in
Google Scholar
PubMed
UPMC Univ, Paris, France
Search for other papers by Philippe Touraine in
Google Scholar
PubMed
the CRMERC study group
the CRMERC study group
Search for other papers by the CRMERC study group in
Google Scholar
PubMed
Search for other papers by the CRMERC study group in
Google Scholar
PubMed
’ ( 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
Heike Hoyer-Kuhn
Heike Hoyer-Kuhn
Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
Search for other papers by Heike Hoyer-Kuhn in
Google Scholar
PubMed
Search for other papers by Heike Hoyer-Kuhn in
Google Scholar
PubMed
Angela Huebner
Angela Huebner
Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany
Search for other papers by Angela Huebner in
Google Scholar
PubMed
Search for other papers by Angela Huebner in
Google Scholar
PubMed
Anette Richter-Unruh
Anette Richter-Unruh
University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany
Search for other papers by Anette Richter-Unruh in
Google Scholar
PubMed
Search for other papers by Anette Richter-Unruh in
Google Scholar
PubMed
Markus Bettendorf
Markus Bettendorf
University Children’s Hospital Heidelberg, Heidelberg, Germany
Search for other papers by Markus Bettendorf in
Google Scholar
PubMed
Search for other papers by Markus Bettendorf in
Google Scholar
PubMed
Tilman Rohrer
Tilman Rohrer
University Children’s Hospital Homburg, Homburg, Germany
Search for other papers by Tilman Rohrer in
Google Scholar
PubMed
Search for other papers by Tilman Rohrer in
Google Scholar
PubMed
Klaus Kapelari
Klaus Kapelari
University Children’s Hospital Innsbruck, Innsbruck, Austria
Search for other papers by Klaus Kapelari in
Google Scholar
PubMed
Search for other papers by Klaus Kapelari in
Google Scholar
PubMed
Stefan Riedl
Stefan Riedl
Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
Search for other papers by Stefan Riedl in
Google Scholar
PubMed
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
Search for other papers by Stefan Riedl in
Google Scholar
PubMed
Klaus Mohnike
Klaus Mohnike
Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany
Search for other papers by Klaus Mohnike in
Google Scholar
PubMed
Search for other papers by Klaus Mohnike in
Google Scholar
PubMed
Helmuth-Günther Dörr
Helmuth-Günther Dörr
University Children’s Hospital Erlangen, Erlangen, Germany
Search for other papers by Helmuth-Günther Dörr in
Google Scholar
PubMed
Search for other papers by Helmuth-Günther Dörr in
Google Scholar
PubMed
Friedrich-Wilhelm Roehl
Friedrich-Wilhelm Roehl
Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany
Search for other papers by Friedrich-Wilhelm Roehl in
Google Scholar
PubMed
Search for other papers by Friedrich-Wilhelm Roehl in
Google Scholar
PubMed
Katharina Fink
Katharina Fink
Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany
Search for other papers by Katharina Fink in
Google Scholar
PubMed
Search for other papers by Katharina Fink in
Google Scholar
PubMed
Reinhard W Holl
Reinhard W Holl
Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany
Search for other papers by Reinhard W Holl in
Google Scholar
PubMed
Search for other papers by Reinhard W Holl in
Google Scholar
PubMed
Joachim Woelfle
Joachim Woelfle
University Children’s Hospital Erlangen, Erlangen, Germany
Search for other papers by Joachim Woelfle in
Google Scholar
PubMed
Search for other papers by Joachim Woelfle in
Google Scholar
PubMed
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
Trine Holm Johannsen
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
Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed
Jakob Albrethsen
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
Search for other papers by Jakob Albrethsen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Jakob Albrethsen in
Google Scholar
PubMed
Vassos Neocleous
Vassos Neocleous
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
Search for other papers by Vassos Neocleous in
Google Scholar
PubMed
Search for other papers by Vassos Neocleous in
Google Scholar
PubMed
Federico Baronio
Federico Baronio
S. Orsola-Malpighi University Hospital, Department of Medical and Surgical Sciences, Bologna, Italy
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Martine Cools
Martine Cools
Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium
Search for other papers by Martine Cools in
Google Scholar
PubMed
Search for other papers by Martine Cools in
Google Scholar
PubMed
Lise Aksglaede
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
Search for other papers by Lise Aksglaede in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Lise Aksglaede in
Google Scholar
PubMed
Niels Jørgensen
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
Search for other papers by Niels Jørgensen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Niels Jørgensen in
Google Scholar
PubMed
Peter Christiansen
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
Search for other papers by Peter Christiansen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Peter Christiansen in
Google Scholar
PubMed
Meropi Toumba
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
Search for other papers by Meropi Toumba in
Google Scholar
PubMed
Pediatric Endocrinology Clinic, Department of Pediatrics, Aretaeio Hospital, Nicosia, Cyprus
Search for other papers by Meropi Toumba in
Google Scholar
PubMed
Pavlos Fanis
Pavlos Fanis
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
Search for other papers by Pavlos Fanis in
Google Scholar
PubMed
Search for other papers by Pavlos Fanis in
Google Scholar
PubMed
Marie Lindhardt Ljubicic
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
Search for other papers by Marie Lindhardt Ljubicic in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Marie Lindhardt Ljubicic in
Google Scholar
PubMed
Anders Juul
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
Search for other papers by Anders Juul in
Google Scholar
PubMed
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
Search for other papers by Anders Juul in
Google Scholar
PubMed
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
Ingeborg Brønstad
Ingeborg Brønstad
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Ingeborg Brønstad in
Google Scholar
PubMed
Search for other papers by Ingeborg Brønstad in
Google Scholar
PubMed
Lars Breivik
Lars Breivik
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Lars Breivik in
Google Scholar
PubMed
Search for other papers by Lars Breivik in
Google Scholar
PubMed
Paal Methlie
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
Search for other papers by Paal Methlie in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Paal Methlie in
Google Scholar
PubMed
Anette S B Wolff
Anette S B Wolff
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Anette S B Wolff in
Google Scholar
PubMed
Search for other papers by Anette S B Wolff in
Google Scholar
PubMed
Eirik Bratland
Eirik Bratland
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Eirik Bratland in
Google Scholar
PubMed
Search for other papers by Eirik Bratland in
Google Scholar
PubMed
Ingrid Nermoen
Ingrid Nermoen
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed
Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed
Kristian Løvås
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
Search for other papers by Kristian Løvås in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Kristian Løvås in
Google Scholar
PubMed
Eystein S Husebye
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
Search for other papers by Eystein S Husebye in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Eystein S Husebye in
Google Scholar
PubMed
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
Muriel Houang
Muriel Houang
Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Search for other papers by Muriel Houang in
Google Scholar
PubMed
Search for other papers by Muriel Houang in
Google Scholar
PubMed
Thao Nguyen-Khoa
Thao Nguyen-Khoa
Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Search for other papers by Thao Nguyen-Khoa in
Google Scholar
PubMed
Search for other papers by Thao Nguyen-Khoa in
Google Scholar
PubMed
Thibaut Eguether
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
Search for other papers by Thibaut Eguether in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Thibaut Eguether in
Google Scholar
PubMed
Bettina Ribault
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
Search for other papers by Bettina Ribault in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Bettina Ribault in
Google Scholar
PubMed
Séverine Brabant
Séverine Brabant
Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Search for other papers by Séverine Brabant in
Google Scholar
PubMed
Search for other papers by Séverine Brabant in
Google Scholar
PubMed
Michel Polak
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
Search for other papers by Michel Polak in
Google Scholar
PubMed
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
Search for other papers by Michel Polak in
Google Scholar
PubMed
Irène Netchine
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
Search for other papers by Irène Netchine in
Google Scholar
PubMed
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Search for other papers by Irène Netchine in
Google Scholar
PubMed
Antonin Lamazière
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
Search for other papers by Antonin Lamazière in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Antonin Lamazière in
Google Scholar
PubMed
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
Simone Martins de Castro
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
Search for other papers by Simone Martins de Castro in
Google Scholar
PubMed
Department of Analysis, Universidade Federal do Rio Grande do Sul (UFRGS), School of Pharmacy, Porto Alegre, RS, Brazil
Search for other papers by Simone Martins de Castro in
Google Scholar
PubMed
Paloma Wiest
Paloma Wiest
Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
Search for other papers by Paloma Wiest in
Google Scholar
PubMed
Search for other papers by Paloma Wiest in
Google Scholar
PubMed
Poli Mara Spritzer
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
Search for other papers by Poli Mara Spritzer in
Google Scholar
PubMed
Search for other papers by Poli Mara Spritzer in
Google Scholar
PubMed
Cristiane Kopacek
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
Search for other papers by Cristiane Kopacek in
Google Scholar
PubMed
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
Search for other papers by Cristiane Kopacek in
Google Scholar
PubMed
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
Stefan Riedl
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
Search for other papers by Stefan Riedl in
Google Scholar
PubMed
Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, Vienna, Austria
Search for other papers by Stefan Riedl in
Google Scholar
PubMed
Friedrich-Wilhelm Röhl
Friedrich-Wilhelm Röhl
Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Germany
Search for other papers by Friedrich-Wilhelm Röhl in
Google Scholar
PubMed
Search for other papers by Friedrich-Wilhelm Röhl in
Google Scholar
PubMed
Walter Bonfig
Walter Bonfig
Department of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria
Search for other papers by Walter Bonfig in
Google Scholar
PubMed
Search for other papers by Walter Bonfig in
Google Scholar
PubMed
Jürgen Brämswig
Jürgen Brämswig
Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany
Search for other papers by Jürgen Brämswig in
Google Scholar
PubMed
Search for other papers by Jürgen Brämswig in
Google Scholar
PubMed
Annette Richter-Unruh
Annette Richter-Unruh
Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany
Search for other papers by Annette Richter-Unruh in
Google Scholar
PubMed
Search for other papers by Annette Richter-Unruh in
Google Scholar
PubMed
Susanne Fricke-Otto
Susanne Fricke-Otto
Department of Pediatrics, Pediatric Endocrinology, Helios Klinikum Krefeld, Krefeld, Germany
Search for other papers by Susanne Fricke-Otto in
Google Scholar
PubMed
Search for other papers by Susanne Fricke-Otto in
Google Scholar
PubMed
Markus Bettendorf
Markus Bettendorf
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany
Search for other papers by Markus Bettendorf in
Google Scholar
PubMed
Search for other papers by Markus Bettendorf in
Google Scholar
PubMed
Felix Riepe
Felix Riepe
Pediatric Endocrinology, Kronshagen, Kiel, Germany
Search for other papers by Felix Riepe in
Google Scholar
PubMed
Search for other papers by Felix Riepe in
Google Scholar
PubMed
Gernot Kriegshäuser
Gernot Kriegshäuser
Institute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Steyr, Austria
Search for other papers by Gernot Kriegshäuser in
Google Scholar
PubMed
Search for other papers by Gernot Kriegshäuser in
Google Scholar
PubMed
Eckhard Schönau
Eckhard Schönau
Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany
Search for other papers by Eckhard Schönau in
Google Scholar
PubMed
Search for other papers by Eckhard Schönau in
Google Scholar
PubMed
Gertrud Even
Gertrud Even
Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany
Search for other papers by Gertrud Even in
Google Scholar
PubMed
Search for other papers by Gertrud Even in
Google Scholar
PubMed
Berthold Hauffa
Berthold Hauffa
Department of Pediatric Endocrinology, University of Duisburg-Essen, Essen, Germany
Search for other papers by Berthold Hauffa in
Google Scholar
PubMed
Search for other papers by Berthold Hauffa in
Google Scholar
PubMed
Helmuth-Günther Dörr
Helmuth-Günther Dörr
Department of Pediatrics, Pediatric Endocrinology, Friedrich Alexander Universität Erlangen, Erlangen, Germany
Search for other papers by Helmuth-Günther Dörr in
Google Scholar
PubMed
Search for other papers by Helmuth-Günther Dörr in
Google Scholar
PubMed
Reinhard W Holl
Reinhard W Holl
Institute of Epidemiology and Medical Biometry (ZIBMT), University of Ulm, Ulm, Germany
Search for other papers by Reinhard W Holl in
Google Scholar
PubMed
Search for other papers by Reinhard W Holl in
Google Scholar
PubMed
Klaus Mohnike
Klaus Mohnike
Department of Pediatrics, Pediatric Endocrinology, Otto von Guericke Universität Magdeburg, Magdeburg, Germany
Search for other papers by Klaus Mohnike in
Google Scholar
PubMed
Search for other papers by Klaus Mohnike in
Google Scholar
PubMed
the AQUAPE CAH Study Group
the AQUAPE CAH Study Group
Search for other papers by the AQUAPE CAH Study Group in
Google Scholar
PubMed
Search for other papers by the AQUAPE CAH Study Group in
Google Scholar
PubMed
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
