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Johan G Beun AdrenalNET, The Netherlands

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Pia Burman Department of Endocrinology, Skåne University Hospital, Lund University, Sweden

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Olle Kämpe Department of Medicine (Solna), Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Department of Endocrinology, Diabetes and Metabolism, Karolinska University Hospital, Stockholm, Sweden

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Eystein S Husebye Department of Clinical Science, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway

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Stephanie Hahner Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Germany

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Jette Kristensen Addison Foreningen i Danmark, Denmark

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Alida Noordzij AdrenalNET, The Netherlands

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Per Dahlqvist Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden

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hormone. Once diagnosed, chronic, daily replacement with glucocorticoids is essential. An adequate hormone replacement dose is considered to be a total of 15–25 mg hydrocortisone (or cortisone acetate 20–35 mg per day) in adults in two to three daily doses

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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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, which is required for the conversion of cholesterol to cortisol and aldosterone, rendering it either partly or completely ineffective ( 2 , 3 ). Patients with classic CAH, therefore, experience glucocorticoid (GC) and mineralocorticoid deficiency

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

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

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

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

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

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Ruth Krone Birmingham Children’s Hospital, Birmingham, UK

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Debora Braslavsky Centro de Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) – CONICET – FEI – División de Endocrinología, Hospital de Niños ‘Ricardo Gutiérrez’, Buenos Aires, Argentina

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Maria Clemente Paediatric Endocrinology, Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain

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

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

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Semra Çetinkaya Health Sciences University, Dr. Sami Ulus Obstetrics and Gynaecology, Children’s Health and Disease Education and Research Hospital, Ankara, Turkey

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Federica Buonocore Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK

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

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John C Achermann Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK

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

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

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findings reported were assessed against SGPL1 variant, sex, age of endocrine disease presentation and ethnicity of patient. Specifically, cases (reports) were reviewed for details of adrenal disease, including absence/presence of glucocorticoid

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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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April for UL or BL benign adrenocortical tumors and having a Synacthen® (ACTH 1-24) test during hospitalization in this context were included in our study. CAH, primary hyperaldosteronism and the recent use of exogenous glucocorticoids represented

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

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

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Michael W O’Reilly Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin

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

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affecting the normal structure and function of the adrenal gland, leading to a deficiency in glucocorticoid, mineralocorticoid and adrenal androgens ( 2 ). Secondary adrenal insufficiency (SAI) occurs due to impairment of the hypothalamus

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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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adrenocorticotropic hormone and, thus, an overproduction of adrenal androgens, which may result in virilization, an altered growth pattern, and infertility ( 2 ). Treatment of CAH may comprise life-long replacement therapy with glucocorticoids and mineralocorticoids

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Jorge Gabriel Ruiz-Sánchez Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM), Hospital Universitario Fundación Jiménez Díaz, Madrid, España
Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España

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Alfonso Luis Calle-Pascual Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España
Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, España

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Miguel Ángel Rubio-Herrera Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España

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María Paz De Miguel Novoa Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España

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Emilia Gómez-Hoyos Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario de Valladolid, Valladolid, España

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Isabelle Runkle Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España

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nephron. However, the importance of cortisol progressively increases as levels of the glucocorticoid rise to upper limits of normal ( 1 ). MR activation in principal cells leads to the synthesis of amiloride-sensitive epithelial Na+ channels and their

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Rachel Forfar Centre for Therapeutics Discovery, LifeArc, Accelerator Building, Open Innovation Campus, Stevenage, UK

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

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

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

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

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

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

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

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

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

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

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

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vasopressin. ACTH then acts on the adrenal glands to produce glucocorticoids and cortisol in humans. Cortisol negatively feeds back at the level of the pituitary gland and hypothalamus to inhibit further production and release ACTH. The melanocortins act

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Timothy J Morris Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK
Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK

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Andrew Whatmore Division of Developmental Biology and Medicine, University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK

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Laura Hamilton Pathology Department, Clinical Biochemistry, Huddersfield Royal Infirmary, Lindley, Huddersfield, UK

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Beverly Hird Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK

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Eric S Kilpatrick Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK

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Lesley Tetlow Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK

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Peter Clayton Division of Developmental Biology and Medicine, University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK

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Introduction Patients with adrenal insufficiency are treated with glucocorticoid and mineralocorticoid replacement ( 1 , 2 ). Plasma renin measured as either plasma renin activity (PRA) or plasma renin concentration (PRC) is used to evaluate

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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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adrenal androgens ( 1 ). To address this, clinicians have used a variety of treatment regimens, including the use of a higher dose of glucocorticoid at night in a reverse circadian treatment pattern. A recent comparison, using a higher dose of

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