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Anastasia P Athanasoulia-Kaspar Clinical Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany

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Matthias K Auer Clinical Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ludwig-Maximilians-Universität München, Munich, Germany

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Günter K Stalla Clinical Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany

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Mira Jakovcevski Department of Stress Neurobiology and Neurogenetics, Max Planck Institute of Psychiatry, Munich, Germany

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, high doses of glucocorticoid substitution therapy and older age at diagnosis are the most consistently identified risk factors associated with increased morbidity and mortality ( 18 , 19 ). In addition, growth hormone deficiency (GHD) has been linked

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0362
Volume/Issue:
Volume 7: Issue 11
Open access
Alessandro Barbato Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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Giulia Gori Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Michele Sacchini Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Francesca Pochiero Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Sara Bargiacchi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Giovanna Traficante Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Viviana Palazzo Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Lucia Tiberi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Claudia Bianchini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Davide Mei Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Parrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Tiziana Pisano Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Procopio Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Renzo Guerrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy
NEUROFARBA Department, University of Florence, Florence, Italy

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Angela Peron Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy
Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

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Stefano Stagi Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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hypogonadism; FT, frontotemporal; GHD, growth hormone deficiency; N.A., not assessed; SDS, standard deviations; US, ultrasound. Table 2 Clinical features and genetic variants of SCO1 gene in all previously described cases of MC4DN4. Case

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0221
Volume/Issue:
Volume 13: Issue 10
Open access
Régis Coutant Department of Pediatric Endocrinology and Diabetology, Reference Center for Rare Pituiatry Diseases, University Hospital of Angers, Angers, France

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Maithé Tauber Reference Center for the Prader-Willi syndrome and other rare obesities with feeding disorders (PRADORT), Children Hospital, CHU Toulouse, Toulouse, France
Pediatric team of the Clinical Investigation Center 9302/INSERM, Hospital of Children, Toulouse, France
Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), INSERM UMR1291 - CNRS UMR5051 - Université Toulouse III, Toulouse, France

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Béatrice Demaret GRANDIR - French Growth Disorders Association, Asnières-sur-Seine, France

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Robin Henocque Pfizer France, Paris France

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Yves Brault Pfizer France, Paris France

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François Montestruc eXYSTAT, Malakoff, France

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Olivier Chassany Health Economics Clinical Trial Unit (URC-ECO), Hospital of Hotel-Dieu, AP-HP, Paris, France
Patient-Reported Outcomes Unit (PROQOL), UMR 1123, University Paris Cité, INSERM, Paris, France

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Michel Polak Hôpital Universitaire Necker Enfants Malades, Pediatric Endocrinology, Gynecology and Diabetology, Imagine Institute, INSERM U1163, Cochin Institute, INSERM U1016, Centre de référence des pathologies endocriniennes rares de la croissance et du développement, Université de Paris Cité, Paris, France

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the QOLITHOR Study Group
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the QOLITHOR Study Group

Introduction Growth hormone deficiency (GHD) results in abnormal linear growth in children ( 1 , 2 ), associated with potential early severe morbidity (psychosocial problems and episodes of hypoglycemia). In addition, persistency of GHD into

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0464
Volume/Issue:
Volume 12: Issue 4
Open access
Ruth Percik Institute of Endocrinology, Diabetes and Metabolism, Sheba Medical Centre, Ramat Gan, Israel

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Sherwin Criseno Department of Endocrinology, University Hospital Birmingham, Birmingham, UK

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Safwaan Adam Department of Endocrinology, The Christie NHS Foundation Trust, Manchester, UK

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Kate Young Royal Marsden Hospital, London, UK

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Daniel L Morganstein Department of Endocrinology, Chelsea and Westminster Hospital, London, UK
Royal Marsden Hospital, London, UK

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deficiency, whilst the inflammatory process itself may yield only minimal manifestations. As the hormone production of an involved gland ceases completely and irreversibly in most cases, lifelong hormone replacement should be initiated, whilst discontinuation

Article Type:
Review Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-22-0513
Volume/Issue:
Volume 12: Issue 5
Open access
Verônica Carneiro Borges Mioto Thyroid Unit, Division of Endocrinology and Metabolism, Hospital das Clinicas HCFMUSP-Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil

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Ana Carolina de Castro Nassif Gomes Monteiro Ultrasound Unit, Department of Radiology, Hospital das Clinicas HCFMUSP-Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil

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Rosalinda Yossie Asato de Camargo Thyroid Unit, Division of Endocrinology and Metabolism, Hospital das Clinicas HCFMUSP-Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil

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Andréia Rodrigues Borel Clinic of the Paraisópolis Community Einstein Project, Jewish School of Health Sciences Albert Einstein, Sao Paulo, Sao Paulo, Brazil

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Regina Maria Catarino Hematology and Biochemistry, Center of Pathology, Adolfo Lutz Institute, Sao Paulo, Sao Paulo, Brazil

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Sergio Kobayashi Ultrasound Unit, Department of Radiology, Hospital das Clinicas HCFMUSP-Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil

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Maria Cristina Chammas Ultrasound Unit, Department of Radiology, Hospital das Clinicas HCFMUSP-Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil

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Suemi Marui Thyroid Unit, Division of Endocrinology and Metabolism, Hospital das Clinicas HCFMUSP-Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil

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neurological development and pregnancy outcomes ( 1 , 2 ). During pregnancy, daily iodine requirement increases by nearly 50% because of an increase in renal iodine excretion, increased thyroid hormone production and foetal iodine requirements ( 3 ). In

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0131
Volume/Issue:
Volume 7: Issue 5
Open access
Glenville Jones Department of Biomedical and Molecular Sciences, Queen’s University, Kingston, Ontario, Canada

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Introduction The history of vitamin D is a rich and storied subject and is now over 350 years old. It began in the early 1600s with the first descriptions of the human deficiency disease: rickets in children and osteomalacia in adults. Of

Article Type:
Review Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0594
Volume/Issue:
Volume 11: Issue 4
Open access
Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Jakob Albrethsen Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Vassos Neocleous The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus

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Federico Baronio S. Orsola-Malpighi University Hospital, Department of Medical and Surgical Sciences, Bologna, Italy

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Martine Cools Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium

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Lise Aksglaede Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Niels Jørgensen Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Peter Christiansen Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Meropi Toumba The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
Pediatric Endocrinology Clinic, Department of Pediatrics, Aretaeio Hospital, Nicosia, Cyprus

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Pavlos Fanis The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus

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Marie Lindhardt Ljubicic Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Denmark

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cytochromep450 family 21 subfamily A member 2 gene ( CYP21A2) , which leads to 21-hydroxylase deficiency (21-OHD) and may be life-threatening due to a reduced adrenal production of cortisol and aldosterone. The disturbance leads to an increased production of

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0073
Volume/Issue:
Volume 12: Issue 8
Open access
Robert Rapaport Ichan School of Medicine, New York, New York, USA

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Peter A Lee Penn State College of Medicine, Hershey, Pennsylvania, USA

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Judith L Ross Thomas Jefferson University, Philadelphia, Pennsylvania, USA
Nemours/DuPont Hospital for Children, Wilmington, Delaware, USA

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Paul Saenger Winthrop University Hospital, Mineola, New York, USA

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Vlady Ostrow Novo Nordisk Inc., Plainsboro, New Jersey, USA

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Giuseppe Piccoli Novo Nordisk Inc., Plainsboro, New Jersey, USA

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Introduction Treatment with recombinant human growth hormone (GH) is widely utilized for improving height in children with growth failure and conditions in which it is efficacious, including isolated growth hormone deficiency (IGHD

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0286
Volume/Issue:
Volume 7: Issue 10
Open access
Ranganathan R Rao Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

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Harpal S Randeva Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

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Sailesh Sankaranarayanan Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

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Murthy Narashima Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

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Matthias Möhlig Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

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Hisham Mehanna Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

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Martin O Weickert Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
Warwickshire Institute for the Study of Diabetes, Warwick Medical School, Department of Endocrinology, Institute of Head and Neck Studies and Education (InHANSE), Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

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Introduction Primary hyperparathyroidism (pHPT) in postmenopausal women is frequently associated with vitamin D deficiency (1, 2) , which in turn is an additional stimulus for further increases in circulating parathyroid hormone (PTH) levels (3, 4

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-12-0008
Volume/Issue:
Volume 1: Issue 1
Open access
Dan Liang Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Han Chen Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Li-Yong Zhong Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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/mL). Impairment to growth hormone–insulin-like growth factor-1 (GH/IGF1): children with growth retardation or adults with obvious hypometabolic syndrome had IGF1 levels below 2 s.d. than their peers and had additional pituitary hormone deficiencies. Impairment

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0168
Volume/Issue:
Volume 12: Issue 8
Open access