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Ekaterina Koledova Biopharma Global Medical Affairs, General Medicine and Endocrinology, Merck KGaA, Darmstadt, Germany

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George Stoyanov Biopharma Global Medical Affairs, General Medicine and Endocrinology, Merck KGaA, Darmstadt, Germany

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Leroy Ovbude Business & Decision Life Sciences, Brussels, Woluwe-Saint-Lambert, Belgium

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Peter S W Davies Children’s Nutrition Research Centre, Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia

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.3%), organic GHD of congenital origin (91.1%) or tumour origin (96.4%). Although adherence decreased with increasing duration of use, median adherence rate in the easypod adherence DAS ( Fig. 1 ) was still high: 87.2% after 3 years of follow-up ( n  = 409

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0172
Volume/Issue:
Volume 7: Issue 8
Open access
Nella Augusta Greggio Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Elisa Rossi CINECA – Interuniversity Consortium (Health Service), Bologna, Italy

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Silvia Calabria CORE srl – Collaborative Outcome Research, Bologna, Italy

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Alice Meneghin Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Joaquin Gutierrez de Rubalcava Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Carlo Piccinni CORE srl – Collaborative Outcome Research, Bologna, Italy

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Antonella Pedrini CORE srl – Collaborative Outcome Research, Bologna, Italy

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congenital or acquired, and transient or permanent. Hypothyroidism diagnosis is based on a clinical suspicion confirmed by TSH titration that represents the most sensitive test available for this diagnosis. Thyroid function is systematically investigated

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0066
Volume/Issue:
Volume 6: Issue 6
Open access
Riccardo Pofi Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism and NIHR Oxford Biomedical Research Centre, Churchill Hospital, University of Oxford, Oxford, UK

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Ilaria Bonaventura Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena, Rome, Italy

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Joanne Duffy Department of Clinical Chemistry and Immunology, Heartlands Hospital, Birmingham, UK

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Zoe Maunsell Department of Clinical Biochemistry, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

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Brian Shine Department of Clinical Biochemistry, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

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Andrea M Isidori Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena, Rome, Italy

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Jeremy W Tomlinson Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism and NIHR Oxford Biomedical Research Centre, Churchill Hospital, University of Oxford, Oxford, UK

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(MCs) and adrenal androgens ( 1 ). The most common causes of PAI are autoimmune adrenalitis (Addison's disease, AD) ( 2 ) and congenital adrenal hyperplasia (CAH), a group of rare genetic disorders characterized by impaired or deficient activity in

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0059
Volume/Issue:
Volume 12: Issue 9
Open access
Ja Hye Kim Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Introduction Heterozygous CHD7 mutations can lead to the development of CHARGE syndrome, characterized by a complex range of congenital malformations including coloboma, heart defects, atresia of choana, retarded growth and development

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-21-0522
Volume/Issue:
Volume 11: Issue 2
Open access
Avinaash Maharaj Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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

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

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

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

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Ruth Krone Birmingham Children’s Hospital, Birmingham, UK

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

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

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

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

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

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

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

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

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

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

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Waldegger S Entenmann A Giner T Krainer I Huber LA Hess MW Frishberg Y Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications . Human Mutation 2017 38 365

Article Type:
Review Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0250
Volume/Issue:
Volume 11: Issue 8
Open access
Anna-Pauliina Iivonen Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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Johanna Känsäkoski Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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Atte Karppinen Department of Neurosurgery, Helsinki University Hospital, Helsinki, Finland

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Leena Kivipelto Department of Neurosurgery, Helsinki University Hospital, Helsinki, Finland

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Camilla Schalin-Jäntti Department of Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Auli Karhu Department of Medical and Clinical Genetics, RPU, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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Taneli Raivio Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

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.(Thr8Ala) variant has been described as potentially increasing the risk of congenital or acquired long QT syndrome and drug-induced cardiac arrhythmia, and it has been found in both healthy individuals and affected patients ( 31 , 32 , 33 , 34 , 35

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0123
Volume/Issue:
Volume 7: Issue 5
Open access
Martijn J J Finken Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Aleid J G Wirix Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Ines A von Rosenstiel-Jadoul Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands

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Bibian van der Voorn Department of Pediatric Endocrinology and Obesity Center CGG, Erasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands

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Mai J M Chinapaw Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Michaela F Hartmann Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany

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Joana E Kist-van Holthe Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Stefan A Wudy Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany

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Joost Rotteveel Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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addition to alterations in the metabolism of glucocorticoids, it could be possible that rate-limiting steps in their synthesis contribute to the development of hypertension in children with obesity. Patients with 11β-hydroxylase deficiency congenital

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0130
Volume/Issue:
Volume 11: Issue 7
Open access
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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glucocorticoids and mineralocorticoids. The most important acquired example of global adrenal insufficiency is Addison’s disease ( 9 ). Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a genetically determined block of

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0002
Volume/Issue:
Volume 12: Issue 10
Open access
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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having congenital adrenal hyperplasia (CAH). All were attending the regional adrenal clinic, run by the paediatric endocrine team with dosing decisions made by individual consultants based on clinical and biochemical parameters. Data on renin measurements

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0370
Volume/Issue:
Volume 13: Issue 2
Open access
Mikkel Andreassen Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Ulla Feldt-Rasmussen Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Niels Jørgensen Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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in humans, although some controversy exists ( 1 , 2 ). Through negative feedback, testosterone is the predominant regulator of LH, whereas inhibin b is the predominant regulator of FSH ( 2 ). Congenital hypogonadotropic hypogonadism (CHH) is

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0061
Volume/Issue:
Volume 7: Issue 4
Open access