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Fidéline Bonnet-Serrano Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Hormonology Department, Cochin Hospital, Paris, France

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Maxime Barat Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Radiology Department, Cochin Hospital, Paris, France

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Anna Vaczlavik Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Anne Jouinot Inserm U1016-CNRS UMR8104, Paris, France

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Lucas Bouys Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Christelle Laguillier-Morizot Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France

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Corinne Zientek Hormonology Department, Cochin Hospital, Paris, France

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Catherine Simonneau Hormonology Department, Cochin Hospital, Paris, France

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Etienne Larger Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Diabetology Department, Cochin Hospital, Paris, France

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Laurence Guignat Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Lionel Groussin Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Guillaume Assié Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Jean Guibourdenche Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France

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Ioannis Nicolis Université Paris Cité, Paris, France
UR 7537 BioSTM, Paris, France

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Marie-Claude Menet Institut de Chimie Physique, Université Paris-Saclay-CNRS, UMR8000, Orsay, France

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Jérôme Bertherat Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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tumoral cells ( 18 , 19 , 20 ). This study aims to explore steroidogenesis responsiveness to ACTH and to compare steroidogenesis enzymes activity in UL and BL adrenocortical benign tumors using serum steroid profiling in liquid chromatography coupled

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Paul-Martin Holterhus Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Alexandra Kulle Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Anne-Marie Till Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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Caroline Stille Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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Tabea Lamprecht Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Simon Vieth Department of Pediatrics I, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian-Albrechts-University, CAU, Kiel, Germany

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Melchior Lauten Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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chromatography tandem mass spectrometry (LC–MS/MS) is today’s gold standard for determining serum steroids. We aimed to investigate LC–MS/MS steroid profiles of childhood ALL serum samples, encompassing cortisol and aldosterone as well as their precursors

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Supitcha Patjamontri Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK
Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

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Alexander Spiers MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK

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Rachel B Smith MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK

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Chen Shen MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK

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Jo Adaway Department of Clinical Biochemistry, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK

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Brian G Keevil Department of Clinical Biochemistry, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK

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Mireille B Toledano MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK

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S Faisal Ahmed Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK

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) concentration. For steroids that showed significant degradation, we assumed their kinetics followed a single first-order (SFO) exponential decline, i.e. that the rate of degradation was proportional to the concentration, a common kinetic profile of biomarkers in

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Marta Araujo-Castro Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain
University of Alcalá, Madrid, Spain

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Miguel Paja Fano Department of Endocrinology & Nutrition, OSI Bilbao-Basurto, Hospital Universitario de Basurton & Basque Country University, Medicine Department, Bilbao, Spain

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Begoña Pla Peris Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain

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Marga González Boillos Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain

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Eider Pascual-Corrales Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain

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Ana María García-Cano Department of Biochemistry, Hospital Universitario Ramón y Cajal, Madrid, Spain

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Paola Parra Ramírez Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain

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Patricia Martín Rojas-Marcos Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain

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Jorge Gabriel Ruiz-Sanchez Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

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Almudena Vicente Department of Endocrinology & Nutrition, Hospital Universitario de Toledo, Toledo, Spain

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Emilia Gómez-Hoyos Department of Endocrinology & Nutrition, Hospital Universitario de Valladolid, Valladolid, Spain

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Rui Ferreira Department of Endocrinology & Nutrition, Hospital Universitario Rey Juan Carlos, Madrid, Spain

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Iñigo García Sanz Department of General & Digestive Surgery, Hospital Universitario de La Princesa, Madrid, Spain

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Mónica Recasens Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain

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Rebeca Barahona San Millan Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain

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María José Picón César Department of Endocrinology & Nutrition, Hospital Universitario Virgen de la Victoria de Málaga, IBIMA Malaga, Spain CIBEROBN, Madrid, Spain

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Patricia Díaz Guardiola Department of Endocrinology & Nutrition, Hospital Universitario Infanta Sofía, Madrid, Spain

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Carolina Perdomo Department of Endocrinology & Nutrition, Clínica Universidad de Navarra, Pamplona, Spain

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Laura Manjón Department of Endocrinology & Nutrition, Hospital Universitario Central de Asturias & Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain

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Rogelio García-Centeno Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain

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Juan Carlos Percovich Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain

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Ángel Rebollo Román Department of Endocrinology & Nutrition, Hospital Reina Sofía, Córdoba, Spain

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Paola Gracia Gimeno Department of Endocrinology & Nutrition, Hospital Rollo Villanova, Zaragoza, Spain

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Cristina Robles Lázaro Department of Endocrinology & Nutrition, Complejo Universitario de Salamanca, Salamanca, Spain

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Manuel Morales Biochemistry and Molecular Genetics Department-CDB, Hospital Clinic, IDIBAPS, CIBERehd, Barcelona, Spain

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María Calatayud Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain

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Simone Andree Furio Collao Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain

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Diego Meneses Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

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Miguel Antonio Sampedro Nuñez Department of Endocrinology & Nutrition, Hospital Universitario La Princesa, Madrid, Spain

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Verónica Escudero Quesada Department of Nephrology, Hospital Universitario Doctor Peser, Valencia, Spain

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Elena Mena Ribas Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain

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Alicia Sanmartín Sánchez Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain

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Cesar Gonzalvo Diaz Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain

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Cristina Lamas Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain

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Raquel Guerrero-Vázquez Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain

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María del Castillo Tous Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain

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Joaquín Serrano Department of Endocrinology & Nutrition, Hospital General Universitario de Alicante, Alicante, Spain

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Theodora Michalopoulou Department of Endocrinology and Nutrition, Joan XXIII University Hospital, Tarragona, Spain

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Eva María Moya Mateo Internal Medicine, Hospital Infanta Leonor de Vallecas, Madrid, Spain

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Felicia Hanzu Department of Endocrinology & Nutrition, Hospital Clinic, IDIPAS, Barcelona, Spain

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other hormonal hypersecretion (pheochromocytoma or sexual steroids) was included to compare the cardiometabolic profile with that of the ACS–PA group ( Fig. 1 ). As we have previously described ( 17 ), the clinical data of the patients were entered into

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Sophie Howarth Clinical and Translational Research Institute, Newcastle University, Newcastle upon Tyne, UK
Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Luca Giovanelli Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Catherine Napier Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Simon H Pearce Clinical and Translational Research Institute, Newcastle University, Newcastle upon Tyne, UK
Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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as type 1 diabetes, autoimmune hypothyroidism and pernicious anaemia. Complex interplay between genetic and environmental factors gives rise to immune-mediated destruction of the steroid-producing cells of the adrenal cortex. As in type 1 diabetes

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Angelica Sharma Division of Diabetes, Endocrinology and Metabolism, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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Katharine Lazarus Division of Diabetes, Endocrinology and Metabolism, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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Deborah Papadopoulou Division of Diabetes, Endocrinology and Metabolism, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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Hemanth Prabhudev Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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Tricia Tan Division of Diabetes, Endocrinology and Metabolism, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK
Department of Clinical Biochemistry, North West London Pathology, London, UK

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Karim Meeran Division of Diabetes, Endocrinology and Metabolism, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK

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Sirazum Choudhury Division of Diabetes, Endocrinology and Metabolism, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, London, UK
Department of Clinical Biochemistry, North West London Pathology, London, UK

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mortality ( 2 ). Replacement with glucocorticoid therapy is the mainstay of treatment, with an objective to mimic the circadian cortisol profile ( 3 ). Current guidelines recommend the use of hydrocortisone in divided doses or low-dose (3–5 mg

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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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English review. References 1 Janzen N Peter M Sander S Steuerwald U Terhardt M Holtkamp U & Sander J . Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass

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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

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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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hydrocortisone in the evening is associated with a worse metabolic profile ( 3 ). International guidelines suggest treating patients with the lowest dose of glucocorticoid required, with the recommendation being 15–25 mg of hydrocortisone a day in fully grown

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Emily Warmington Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK

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Gabrielle Smith Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK

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Vasileios Chortis Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK

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Raimunde Liang Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany
Department of Neurosurgery, Technical University Munich (TMU), Munich, Germany

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Juliane Lippert Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Sonja Steinhauer Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Laura-Sophie Landwehr Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Constanze Hantel Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland
Medizinische Klinik Und Poliklinik III, University Hospital Carl Gustav Carus, Dresden, Germany

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Katja Kiseljak-Vassiliades Division of Endocrinology Metabolism and Diabetes, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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Margaret E Wierman Division of Endocrinology Metabolism and Diabetes, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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Barbara Altieri Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Paul A Foster Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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Cristina L Ronchi Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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patients (OSI-906) but also yielded disappointing results ( 12 ). In a recent study, we performed targeted gene expression profiling of ACC tumour samples and identified up-regulated genes and pathways, including cyclin-dependent kinase (CDK) and polo

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