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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

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0217
Volume/Issue:
Volume 13: Issue 10
Open access
Anastasia K Armeni Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Konstantinos Assimakopoulos Department of Psychiatry, University of Patras Medical School, Patras, Greece

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Dimitra Marioli Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Vassiliki Koika Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Euthychia Michaelidou Department of Biology, University of Patras, Patras, Greece

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Niki Mourtzi Department of Biology, University of Patras, Patras, Greece

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Gregoris Iconomou Department of Psychiatry, University of Patras Medical School, Patras, Greece

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Neoklis A Georgopoulos Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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sensitivity ( 8 ). Estrogens binding to estrogen receptors (ERA or ERB) activate estrogen-responsive genes and stimulate ER-positive cell lines. Although single-nucleotide polymorphisms (SNPs) of ERB gene (rs1271572, rs4986938 and rs928554) have been

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-16-0090
Volume/Issue:
Volume 6: Issue 1
Open access
Klaudia Zajkowska Endocrinology, Holycross Cancer Centre, Kielce, Poland

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Janusz Kopczyński Surgical Pathology, Holycross Cancer Centre, Kielce, Poland

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Stanisław Góźdź Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland

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Aldona Kowalska Endocrinology, Holycross Cancer Centre, Kielce, Poland
Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland

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, 31 ). Activating mutations of the RAS gene are detected in 30–67% of NIFTP cases; the most common mutation affects NRAS , followed by HRAS and KRAS genes ( 4 , 27 , 28 , 29 , 30 , 32 , 33 ). Other less common genetic alterations found in

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-19-0566
Volume/Issue:
Volume 9: Issue 3
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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studies have provided more information on the causes of CH ( 2 , 4 , 5 , 6 ). To date, more than 20 disease-causing genes have been reported to be linked with the pathogenesis of CH ( 1 , 7 , 8 , 9 , 10 ). TD is defined as abnormal thyroid gland

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0411
Volume/Issue:
Volume 9: Issue 11
Open access
Marianne C Astor Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Kristian Løvås Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Anette S B Wolff Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Bjørn Nedrebø Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Eirik Bratland Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Jon Steen-Johnsen Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Eystein S Husebye Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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. Mutational analyses Sequencing of the whole coding region of the TRPM6 gene was performed at the Laboratory for Molecular Diagnostics, Centre for Nephrology and Metabolic Disorders (Weisswasse, Germany), by Dr.med. Mato Nagel. Family members were screened

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0066
Volume/Issue:
Volume 4: Issue 4
Open access
Monika Karczewska-Kupczewska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland

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Agnieszka Nikołajuk Department of Prophylaxis of Metabolic Diseases, Institute of Animal Reproduction and Food Research Polish Academy of Sciences, Olsztyn, Poland

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Radosław Majewski Department of Prophylaxis of Metabolic Diseases, Institute of Animal Reproduction and Food Research Polish Academy of Sciences, Olsztyn, Poland

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Remigiusz Filarski Department of Prophylaxis of Metabolic Diseases, Institute of Animal Reproduction and Food Research Polish Academy of Sciences, Olsztyn, Poland

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Magdalena Stefanowicz Department of Metabolic Diseases, Medical University of Białystok, Białystok, Poland

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Natalia Matulewicz Department of Metabolic Diseases, Medical University of Białystok, Białystok, Poland

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Marek Strączkowski Department of Prophylaxis of Metabolic Diseases, Institute of Animal Reproduction and Food Research Polish Academy of Sciences, Olsztyn, Poland

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), Cell Death–Inducing DFFA (DNA Fragmentation Factor-α)-Like Effector A (CIDEA) and caveolin 1 (CAV1) inhibit lipolysis through stabilization of lipid droplet and protection against TG hydrolysis, whereas G0/G1 switch gene 2 (G0S2) inhibits ATGL activity

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0507
Volume/Issue:
Volume 9: Issue 2
Open access
Qinglei Yin Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Guangdong Geriatric Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China

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Zhou Jin Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Yulin Zhou Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Dalong Song Guangdong Geriatric Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
Reproductive Medicine Center, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China

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Chenyang Fu Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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FengJiao Huang Reproductive Medicine Center, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
Division of Endocrinology, Department of Internal Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China

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Shu Wang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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, CA, USA). The quantification of the expression of a given gene, expressed as the relative mRNA level compared with that of the control, was calculated with the 2 −ΔΔCt comparative method after normalization to the housekeeping gene Actin. Primer

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0373
Volume/Issue:
Volume 9: Issue 12
Open access
Anne-Sophie C A M Koning Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands
Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands

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Philippe C Habets Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands
Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands

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Marit Bogaards Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands
Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands

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Jan Kroon Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands
Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands

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Hanneke M van Santen Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
Department of Pediatric Neuro-Oncology, Prinses Máxima Centrum, Utrecht, The Netherlands

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Judith M de Bont Department of Pediatric Neuro-Oncology, Prinses Máxima Centrum, Utrecht, The Netherlands

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Onno C Meijer Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands
Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands

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recently identified MR-selective target genes in the rodent brain ( 18 ). Materials and methods Human brain tissue Frozen and paraffin-embedded hippocampal tissue from an 8-year-old brain tumor patient was obtained from the biobank of the

Article Type:
Research Article
Collections:
Cardiovascular
DOI:
https://doi.org/10.1530/EC-21-0425
Volume/Issue:
Volume 11: Issue 3
Open access
R C S van Adrichem
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L J Hofland
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R A Feelders
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M C De Martino
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P M van Koetsveld
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C H J van Eijck Department of Internal Medicine, Department of Surgery, Department of Pathology, Sector of Endocrinology, Erasmus MC, ‘s Gravendijkwal 230, Room D-430, 3015 CE Rotterdam, The Netherlands

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R R de Krijger Department of Internal Medicine, Department of Surgery, Department of Pathology, Sector of Endocrinology, Erasmus MC, ‘s Gravendijkwal 230, Room D-430, 3015 CE Rotterdam, The Netherlands

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D M Sprij-Mooij
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J A M J L Janssen
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W W de Herder
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present, a possible relationship between serum CgA (sCgA), the cellular expression of the Ki-67 protein, and the IGF-related genes has not been studied in GEP NETs. Deregulation of the IGF system, a complex network involved in cell growth and metabolic

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0052
Volume/Issue:
Volume 2: Issue 4
Open access
Weiwei He Department of Endocrinology, Affiliated Hospital of Yanan Medical University, Shaanxi, China

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Bin Wang Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China

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Kaida Mu Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Jing Zhang Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Yanping Yang Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Wei Yao Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Sheli Li Department of Endocrinology, Affiliated Hospital of Yanan Medical University, Shaanxi, China

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Jin-an Zhang Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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in patients in the 20–40 years age group. We have previously found that polymorphisms in some genes such as CTLA4 and PTPN22 ( 12 , 13 ) were associated with GD. Interleukin (IL)-27 (IL27) has an important role in shaping Th cell responses and is

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0370
Volume/Issue:
Volume 8: Issue 3
Open access