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Ja Hye Kim Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Ji-Hee Yoon Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jieun Lee Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea

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Min Jae Kang Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, 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, University of Ulsan College of Medicine, Seoul, Korea

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

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://doi.org/10.1530/EJE-17-0568 ) 39 Gach A Pinkier I Sałacińska K Szarras-Czapnik M Salachna D Kucińska A Rybak-Krzyszkowska M & Sakowicz A . Identification of gene variants in a cohort of hypogonadotropic hypogonadism: diagnostic utility of

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0413
Volume/Issue:
Volume 12: Issue 5
Open access
Lukas Plachy Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Petra Dusatkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Klara Maratova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Shenali Anne Amaratunga Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Dana Zemkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Vit Neuman Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stanislava Kolouskova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Barbora Obermannova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Marta Snajderova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Zdenek Sumnik Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Jan Lebl Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stepanka Pruhova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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conditions such as brain tumors, trauma, infection or irradiation, and congenital forms of CPHD with a presumed genetic background ( 1 ). Pathogenic variants in more than 70 genes expressed during the prenatal development of the head, hypothalamus, and

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Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0217
Volume/Issue:
Volume 13: 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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, 5 ). Conversely, the causes of adult-onset GHD (AO-GHD) are mainly due to hypothalamic–pituitary lesions and their associated treatment by surgery and/or radiotherapy ( 6 ), and performing diagnostic testing should only be limited to patients who are

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
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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pituitary function assessment in evaluations following diagnosis of MC4DN4 and considering SCO1 as a candidate gene in the diagnostic assessment of hypopituitarism and DEE. Further research is needed to better understand the underlying mechanisms and

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
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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Korean references ( 21 ). Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels were measured with IRMA (Byk-Sangtec Diagnostica, Hessen, Germany), while estradiol and testosterone levels were measured by RIA (Coat-A-Count, Diagnostic

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Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-21-0522
Volume/Issue:
Volume 11: Issue 2
Open access
Julia Beckhaus Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany
Division of Epidemiology and Biometry, Carl von Ossietzky University, Oldenburg, Germany

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Svenja Boekhoff Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

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Katrin Scheinemann Pediatric Hematology-Oncology Center, Children’s Hospital of Eastern Switzerland, St. Gallen, Switzerland
Faculty of Health Sciences and Medicine, University of Lucerne, Lucerne, Switzerland
Department of Pediatrics, McMaster Children’s Hospital and McMaster University, Hamilton, Ontario, Canada

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Freimut H Schilling Department of Pediatrics, Division of Pediatric Hematology and Oncology, Children’s Hospital Lucerne, Lucerne, Switzerland

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Gudrun Fleischhack Pediatrics III, University Hospital of Essen, Essen, Germany

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Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University Tübingen, Tübingen, Germany

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Brigitte Bison Diagnostic and Interventional Neuroradiology, Faculty of Medicine, University of Augsburg, Augsburg, Germany

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Torsten Pietsch Institute of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical Center, Bonn, Germany

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Carsten Friedrich Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

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Hermann L Müller Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

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in this age group, while the papillary type is almost only prevalent in adults ( 1 ). The diagnosis of CP in the fetal and neonatal periods is uncommon. Due to modern and noninvasive diagnostic techniques such as MRI and high-quality ultrasound

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Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0294
Volume/Issue:
Volume 12: Issue 12
Open access
Yi Wang Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yingying Xu Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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

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Bingyan Cao Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yuan Ding Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Jiayun Guo Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaoqiao Li Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaolin Ni Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Zheng Yuan Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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

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Liyang Liang Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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Chunxiu Gong Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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and ROHHAD (NET) cases reported after October 2019 in the PUBMED database as group 2. The literature screening process is detailed in Fig. 1 . The diagnostic criteria for ROHHAD syndrome were based on those used in a previous report ( 8 ), as well as

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Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0189
Volume/Issue:
Volume 13: Issue 11
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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manifestations, neuroimaging features, laboratory examination, tumor markers, diagnostic methods, therapeutic strategies, and outcomes. The symptom interval was defined as the time span from its occurrence to its diagnosis. Tumor markers were measured using an

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Research Article
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Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0168
Volume/Issue:
Volume 12: Issue 8
Open access
Cihan Atila Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland
Department of Clinical Research, University of Basel, Basel, Switzerland

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Sophie Monnerat Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland
Department of Clinical Research, University of Basel, Basel, Switzerland

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Roland Bingisser Emergency Department, University Hospital Basel, Basel, Switzerland

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Martin Siegemund Department of Intensive Care, University Hospital Basel, Basel, Switzerland

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Maurin Lampart Department of Cardiology and Cardiovascular Research Institute Basel (CRIB), University Hospital Basel, University of Basel, Basel, Switzerland

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Marco Rueegg Emergency Department, University Hospital Basel, Basel, Switzerland

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Núria Zellweger Department of Intensive Care, University Hospital Basel, Basel, Switzerland

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Stefan Osswald Department of Cardiology and Cardiovascular Research Institute Basel (CRIB), University Hospital Basel, University of Basel, Basel, Switzerland

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Katharina Rentsch Department of Laboratory Medicine, University Hospital Basel, Basel, Switzerland

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Mirjam Christ-Crain Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland
Department of Clinical Research, University of Basel, Basel, Switzerland

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Raphael Twerenbold Department of Cardiology and Cardiovascular Research Institute Basel (CRIB), University Hospital Basel, University of Basel, Basel, Switzerland
University Center of Cardiovascular Science & Department of Cardiology, University Heart and Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
German Center for Cardiovascular Research (DZHK), Partner Site Hamburg–Kiel–Lübeck, Hamburg, Germany

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(Roche Diagnostics) on an Elecsys® analyzer. Treating physicians were blinded for IL-6 and PCT but not the remaining investigational inflammatory biomarkers such as leucocytes or CRP. Study outcomes The primary outcome was the association between

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Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0171
Volume/Issue:
Volume 11: Issue 10
Open access
Marcus Heldmann Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany

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Krishna Chatterjee Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Carla Moran Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Berenike Rogge Department of Neurology, University of Lübeck, Lübeck, Germany

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Julia Steinhardt Department of Neurology, University of Lübeck, Lübeck, Germany

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Tobias Wagner-Altendorf Department of Neurology, University of Lübeck, Lübeck, Germany

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Martin Göttlich Department of Neurology, University of Lübeck, Lübeck, Germany

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Hannes Schacht Department of Neuroradiology, University of Lübeck, Lübeck, Germany

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Peter Schramm Department of Neuroradiology, University of Lübeck, Lübeck, Germany

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Georg Brabant Department of Internal Medicine I, University of Lübeck, Lübeck, Germany
Department of Endocrinology, The Christie, University of Manchester, Manchester, UK

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Thomas F Münte Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany

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Anna Cirkel Department of Neurology, University of Lübeck, Lübeck, Germany

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Introduction Thyroid hormone receptors (TRs) mediate thyroid hormone action. They can be divided into thyroid hormone receptor alpha (TRα) and thyroid hormone receptor beta (TRβ1 and TRβ2). Mutations in encoding genes ( THRA and THRB ) lead

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-21-0473
Volume/Issue:
Volume 11: Issue 1
Open access