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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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Introduction Acromegaly is a rare disease that is caused by excessive growth hormone (GH) secretion by a pituitary adenoma ( 1 , 2 , 3 ). The clinical picture of active acromegaly is characterized by a combination of symptoms, signs, and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0035
Volume/Issue:
Volume 10: Issue 7
Open access
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
Richard P Steeds Department of Cardiology, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK
Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK

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Vandana Sagar Centre for Liver and Gastrointestinal Research, Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK

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Shishir Shetty Centre for Liver and Gastrointestinal Research, Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK

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Tessa Oelofse Departments of Anaesthesia and Intensive Care, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Harjot Singh Departments of Anaesthesia and Intensive Care, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Raheel Ahmad Department of Cardiology, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Elizabeth Bradley Therapy Services (Dietetics), University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Rachel Moore Departments of Anaesthesia and Intensive Care, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Suzanne Vickrage Birmingham Neuroendocrine Tumour Centre, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Stacey Smith Birmingham Neuroendocrine Tumour Centre, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Ivan Yim Department of Cardiothoracic Surgery, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Yasir S Elhassan Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK

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Hema Venkataraman Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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John Ayuk Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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Stephen Rooney Department of Cardiothoracic Surgery, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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Tahir Shah Birmingham Neuroendocrine Tumour Centre, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK
Department of Hepatology and Liver Transplantation, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK

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heart (around 90% of cases), likely due to pulmonary inactivation of the vasoactive substances, resulting in right heart failure. Presentation, clinical assessment and diagnosis Cardiac symptoms and signs are often lacking or are subtle until CHD

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-19-0413
Volume/Issue:
Volume 8: Issue 12
Open access
Natasha Bergmann Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark

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Søren Ballegaard Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark

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Pernille Holmager Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark

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Per Bech Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark

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Åke Hjalmarson Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark

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Finn Gyntelberg Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark

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Jens Faber Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark
Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark

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Introduction The risk of depression in people with diabetes is two times higher when compared with patients without diabetes, and major depression and elevated depressive symptoms have been found to be present in 11 and 31%, respectively, of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0083
Volume/Issue:
Volume 3: Issue 4
Open access
Raluca Maria Furnica Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Muhammad Muddaththir Dusoruth Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Alexandre Persu Department of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Damien Gruson Department of Biology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Michel Mourad Endocrine Surgery, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Dominique Maiter Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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myocardial syndrome or chronic hypertrophic or dilated cardiomyopathy ( 4 ). For decades, the diagnosis of PPGL has been most commonly based on the presence of paroxysmal or sustained hypertension, associated with suggestive symptoms and signs such as

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0537
Volume/Issue:
Volume 10: Issue 1
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
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
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
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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–6 months of stopping treatment, and 9% ( n  = 6) would carry out patient review within 12 months. On this review, the majority ( n  = 33–54) would complete anthropometric, biochemical, QoL and signs/symptoms monitoring. None of the respondents specified the

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
Yi Wang Y Wang, Department of Endocrinology, Genetics and Metabolism , Beijing Children's Hospital Capital Medical University, Beijing, China

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Yingying Xu Y Xu, Department of Pediatrics, Sun Yat-Sen University, Guangzhou, China

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Rongrong Xie R Xie, Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Bing Yan Cao B Cao, Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital Capital Medical University, Beijing, China

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Yuan Ding Y Ding, Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital Capital Medical University, Beijing, China

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Jiayun Guo J Guo, Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital Capital Medical University, Beijing, China

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Xiaoqiao Li X Li, Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital Capital Medical University, Beijing, China

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Xiaolin Ni X Ni, Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital Capital Medical University, Beijing, China

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Zheng Yuan Z Yuan, Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital Capital Medical University, Beijing, China

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Linqi Chen L Chen, Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Liyang Liang L Liang, Department of Pediatrics, Sun Yat-Sen University, Guangzhou, China

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Chunxiu Gong C Gong, Department of Endocrinology, Genetics and Metabolism, Capital Medical University, Beijing, 100054, China

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Objective: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is rare, and manifestations of autonomic dysregulation are diverse and may be overlooked. We aimed to evaluate the incidence of these manifestations.

Methods: Patients with ROHHAD syndrome reported before and after 2019 were divided into Groups 1 and 2. Patients who were diagnosed at three regional hospitals in China were included in Group 3. We collected the age of each specific term of the ROHHAD (neurogenic tumor, NET) acronym and the detailed manifestations of each term, and compared them among the three groups.

Results: A total of 16 patients were diagnosed within the 2-year period. Two had neurogenic tumors and cognitive and behavioral abnormalities before developing rapid obesity. At least 93.8% of the patients had ≥ 4 symptoms of autonomic dysregulation. When comparing autonomic dysregulation among Groups 1–3, the rates of cardiovascular manifestations were NA vs. 12.8% vs. 81.2%; gastrointestinal disturbances were 11.4% vs. 8.5% vs. 62.5%; strabismus was 25.7% vs. 12.8% vs. 62.5%; sleep disturbance was NA vs. 6.4% vs. 50.0%; and abnormal pain threshold was NA vs. 10.6% vs. 25.0% (all p<0.05). The rates of cognitive and behavioral abnormalities were NA vs 29.8% and 87.5% (p<0.01).

Conclusions: Rapid-onset obesity is not always the first sign of ROHHAD syndrome. Higher rates of autonomic dysregulation and cognitive and behavioral abnormalities with multiple manifestations of autonomic dysregulation coexisted in our cohort, indicating that evaluations of autonomic function and the limbic system should be strengthened when assessing this condition.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-24-0189
Volume/Issue:
Accepted Manuscripts
Open access