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Natalie Rogowski-Lehmann Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany

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Aikaterini Geroula Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany

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Aleksander Prejbisz Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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Henri J L M Timmers Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands

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Felix Megerle Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany

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Mercedes Robledo Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Martin Fassnacht Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany

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Stephanie M J Fliedner First Department of Medicine, University Medical Center Schleswig-Holstein, Lübeck, Germany

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Martin Reincke Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany

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Anthony Stell Department of Computing and Information, University of Melbourne, Melbourne Australia

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Andrzej Januszewicz Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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Jacques W M Lenders Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany

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Graeme Eisenhofer Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany

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Felix Beuschlein Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland

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PPGLs are caused by the excessive production of catecholamines and include headache, palpitations and sweating together with intermittently or persistently elevated blood pressure ( 5 ). While the presence of typical signs and symptoms has some

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0318
Volume/Issue:
Volume 7: Issue 11
Open access
Elena V Varlamov Department of Medicine (Endocrinology, Diabetes and Clinical Nutrition), Oregon Health & Science University, Portland, Oregon, USA
Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA

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Dan Alexandru Niculescu Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA

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Swechya Banskota Department of Medicine (Endocrinology, Diabetes and Clinical Nutrition), Oregon Health & Science University, Portland, Oregon, USA
Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA

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Simona Andreea Galoiu Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA

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Catalina Poiana Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA

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Maria Fleseriu Department of Medicine (Endocrinology, Diabetes and Clinical Nutrition), Oregon Health & Science University, Portland, Oregon, USA
Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA

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secondary diabetes mellitus (DM)) ( 2 , 3 , 4 ). Long-standing acromegaly is relatively easy to diagnose due to multiple pathognomonic signs and symptoms. However, milder disease cases pose a great challenge, and an acromegaly diagnosis is eventually

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0035
Volume/Issue:
Volume 10: Issue 7
Open access
Kinnaree Sorapipatcharoen Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Thipwimol Tim-Aroon Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Pat Mahachoklertwattana Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Wasun Chantratita Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Nareenart Iemwimangsa Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Insee Sensorn Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Bhakbhoom Panthan Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Poramate Jiaranai Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Saisuda Noojarern Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Patcharin Khlairit Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Sarunyu Pongratanakul Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Chittiwat Suprasongsin Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Manassawee Korwutthikulrangsri Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Chutintorn Sriphrapradang Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Preamrudee Poomthavorn Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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either confirmatory test for positive newborn screening (NBS) or thyroid function tests for other signs and symptoms suggesting CH. Patients with transient CH secondary to maternal conditions, sick euthyroid syndrome and obvious syndromic features were

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0411
Volume/Issue:
Volume 9: Issue 11
Open access
Kevin C J Yuen Departments of Neuroendocrinology and Neurosurgery, Barrow Neurological Institute, University of Arizona College of Medicine and Creighton School of Medicine, Phoenix, Arizona, United States

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Gudmundur Johannsson Department of Endocrinology, Sahlgrenska University Hospital and Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Ken K Y Ho The Garvan Institute of Medical Research and the Faculty of Medicine, University of New South Wales, Sydney, Australia

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Bradley S Miller Pediatric Endocrinology, University of Minnesota Medical School, M Health Fairview Masonic Children’s Hospital, Minneapolis, Minnesota, United States

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Ignacio Bergada Centro de Investigaciones Endocrinológicas "Dr César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina

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Alan D Rogol Pediatric Diabetes and Endocrinology, University of Virginia, Charlottesville, Virginia, United States

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GHD to severe GH resistance ( 8 ). Thus, establishing the diagnosis of GHD can be challenging in children and adults. Although short stature and growth faltering are useful clinical markers for GHD in children, signs and symptoms of adult subjects with

Article Type:
Review Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0504
Volume/Issue:
Volume 12: Issue 7
Open access
I M A A van Roessel Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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J P de Graaf Dutch Pituitary Foundation, Nijkerk, The Netherlands
Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Endo-ERN European Reference Network on Rare endocrine conditions

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N R Biermasz Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Endo-ERN European Reference Network on Rare endocrine conditions

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E Charmandari Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece
Division of Endocrinology and Metabolism, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece

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H M van Santen Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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treatment for a brain tumor is a rare disease and patients may encounter difficulties in receiving optimal health care. Delay in recognition of signs and symptoms, difficulties in timely referral or assigning the correct treatment may occur. HD can have

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0147
Volume/Issue:
Volume 12: Issue 10
Open access
Sherwin Criseno Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
School of Nursing and Midwifery, Institute of Clinical Sciences, University of Birmingham, UK

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Helena Gleeson Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Andrew A Toogood Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Neil Gittoes Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Anne Topping School of Nursing and Midwifery, Institute of Clinical Sciences, University of Birmingham, UK

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Niki Karavitaki Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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signs and symptoms they would monitor. A small proportion ( n = 8–11, 12–16%) would complete radiological assessments (i.e. bone mineral density and/or body composition measurements) ( Fig. 4 ). Figure 4 Responses to Q11 of the survey: ‘If you

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0533
Volume/Issue:
Volume 13: Issue 5
Open access
Wolfgang Högler Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK

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Agnès Linglart AP-HP, Hôpital Bicêtre Paris Saclay, service d’endocrinologie et diabète de l’enfant, DMU 3 SEA, centre de référence des maladies rares du métabolisme du calcium et du phosphate, filière OSCAR; Université de Paris-Saclay INSERM U1185, Hôpital Bicêtre, Le Kremlin-Bicêtre, France

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Anna Petryk Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA

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Priya S Kishnani Duke University Medical Center, Durham, North Carolina, USA

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Lothar Seefried University of Würzburg, Würzburg, Germany

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Shona Fang Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA

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Cheryl Rockman-Greenberg University of Manitoba, Winnipeg, Manitoba, Canada

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Keiichi Ozono Osaka University, Suita, Osaka, Japan

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Kathryn Dahir Vanderbilt University Medical Center, Nashville, Tennessee, USA

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Gabriel Ángel Martos-Moreno Departments of Pediatrics and Pediatric Endocrinology Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain

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manifestation, family history of HPP, signs and symptoms, height, and weight, from consenting and assenting patients with HPP (or their parents or guardians as appropriate) ( 4 , 8 ). All data were collected during routine clinical visits ( 8 ). Data recorded

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0240
Volume/Issue:
Volume 12: Issue 5
Open access
Roland Därr Department of Cardiology and Angiology I, Heart Center Freiburg University, Faculty of Medicine, University of Freiburg, Freiburg, Germany
Department of Medicine IV, Medical Center – University of Freiburg

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Jonas Kater Department of Medicine IV, Medical Center – University of Freiburg

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Peggy Sekula Institute of Genetic Epidemiology, University Medical Center Freiburg, Freiburg, Germany

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Birke Bausch Department of Medicine II, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Tobias Krauss Department of Radiology, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Christoph Bode Department of Cardiology and Angiology I, Heart Center Freiburg University, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Gerd Walz Department of Medicine IV, Medical Center – University of Freiburg

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Hartmut P Neumann Section for Preventive Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Stefan Zschiedrich Department of Medicine IV, Medical Center – University of Freiburg

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. Sign and symptom score A clinical evaluation score (CES) was developed in order to allow for the uniform categorisation into symptomatic and asymptomatic patients. To that end, patients were ranged according to the documented presence/absence of the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0208
Volume/Issue:
Volume 9: Issue 8
Open access
Wiebke Arlt Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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the Society for Endocrinology Clinical Committee The Society for Endocrinology, 22 Apex Court, Woodlands, Bradley Stoke, Bristol, UK

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higher risk of adrenal crisis. Clinical presentation Clinical signs and symptoms : Fatigue, lack of energy, weight loss Low blood pressure, postural dizziness and hypotension (≥20 mmHg drop in BP from supine to standing position), dizziness

Article Type:
Other
DOI:
https://doi.org/10.1530/EC-16-0054
Volume/Issue:
Volume 5: Issue 5
Open access
Katica Bajuk Studen Department of Nuclear Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

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Simona Gaberšček Department of Nuclear Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

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Edvard Pirnat Department of Nuclear Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

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Nataša Bedernjak Bajuk Department of Nuclear Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

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Andreja Vendramin Department of Nuclear Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

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Vito Majcen Department of Nuclear Medicine, SB Celje, Celje, Slovenia

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Katja Zaletel Department of Nuclear Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

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evaluation, they were prescribed a repeated 30-day MPSL scheme. One patient was prescribed a 20-day 16 mg MPSL scheme and one was advised to take analgesic drugs only (both at visit 2). Three patients complained of recurrent signs and symptoms after 1 month

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-23-0054
Volume/Issue:
Volume 12: Issue 11
Open access