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Elisabet Einarsdottir Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden

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Minna Pekkinen Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Kaarel Krjutškov Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland
Competence Centre on Health Technologies, Tartu, Estonia

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Shintaro Katayama Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden

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Juha Kere Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
School of Basic and Medical Biosciences, King’s College London, Guy’s Hospital, London, United Kingdom

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Outi Mäkitie Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

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Heli Viljakainen Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Department of Food and Environmental Sciences, University of Helsinki, Helsinki, Finland

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vitamin D receptor (VDR), which is found in over 40 tissues ( 10 ) and modulates the expression of a large number of genes ( 11 ). Previous studies have mainly focused on the actions of vitamin D in specific cell lines as reviewed by Bouillon & colleagues

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0537
Volume/Issue:
Volume 8: Issue 5
Open access
Yijun Tang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yao Chen Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jiayi Wang Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Qianwen Zhang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yirou Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yufei Xu Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xin Li Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jian Wang International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xiumin Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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present with more remarkable clinical heterogeneity among different classifications and ages ( 6 ). The phenotypes vary from mild to severe as the clinical classification varies. Gene sequencing technologies can help confirm the pathogenesis of different

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0029
Volume/Issue:
Volume 12: Issue 10
Open access
Ingeborg Brønstad Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Lars Breivik Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Paal Methlie Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Anette S B Wolff Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Eirik Bratland Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Ingrid Nermoen Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Kristian Løvås Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Eystein S Husebye Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Introduction The CYP21A2 gene encodes the enzyme steroid 21-hydroxylase (21OH), which is essential for steroid synthesis in the adrenal cortex. Mutations in CYP21A2 are the main cause of the autosomal recessive disorder congenital adrenal

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0032
Volume/Issue:
Volume 3: Issue 2
Open access
Tiemo S Gerber Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany

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Arno Schad Department of Pathology, University Medicine, Mainz, Germany

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Nils Hartmann Department of Pathology, University Medicine, Mainz, Germany

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Erik Springer Department of Pathology, University Medicine, Mainz, Germany

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Ulrich Zechner Institute of Human Genetics, University Medicine, Mainz, Germany

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Thomas J Musholt Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany

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(NGS) approach, we screened 23 PDTC for variants in 48 cancer-relevant genes. The main goal addressed in this exploratory study was to characterise novel genetic changes as potential targets for further research as well as establishing the NGS technique

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0290
Volume/Issue:
Volume 7: Issue 1
Open access
Zhengrong Jiang Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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Linghong Huang Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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Lijun Chen Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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Jingxiong Zhou Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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Bo Liang Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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Xuefeng Bai Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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Lizhen Wu Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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Huibin Huang Department of Endocrinology, The Second affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China

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becoming milder owing to sensitive diagnostic tests and effective treatments. However, thyroid storms can occur occasionally, and GD treatments such as antithyroid medications, radioiodine therapy, and surgery (thyroidectomy) may be associated with side

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-22-0030
Volume/Issue:
Volume 11: Issue 11
Open access
P G Murray Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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D Hanson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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T Coulson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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A Stevens Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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A Whatmore Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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R L Poole Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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D J Mackay Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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G C M Black Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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P E Clayton Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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fleshy lips), prominent heels, normal intelligence and, in some, radiological features (slender long bones and tall vertebral bodies). It is caused by loss of function mutations in the genes encoding cullin 7 ( CUL7 ) (1) , obscurin-like 1 ( OBSL1 ) (2

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0065
Volume/Issue:
Volume 2: Issue 4
Open access
Ayako Sato Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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Katsuya Matsuda Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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Takahiro Motoyama Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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Zhanna Mussazhanova Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Al-Farabi Kazakh National University, Almaty City, Republic of Kazakhstan

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Ryota Otsubo Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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Hisayoshi Kondo Biostatics Section, Division of Scientific Data Registry, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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Yuko Akazawa Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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Miyoko Higuchi Department of Diagnostic Pathology and Cytology, Kuma Hospital, Kobe, Hyogo, Japan

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Ayana Suzuki Department of Diagnostic Pathology and Cytology, Kuma Hospital, Kobe, Hyogo, Japan

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Mitsuyoshi Hirokawa Department of Diagnostic Pathology and Cytology, Kuma Hospital, Kobe, Hyogo, Japan

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Akira Miyauchi Department of Diagnostic Pathology and Cytology, Kuma Hospital, Kobe, Hyogo, Japan

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Takeshi Nagayasu Department of Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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Masahiro Nakashima Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

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diagnostic thyroidectomy. The p53-binding protein 1 (53BP1) is a family of evolutionarily conserved DNA damage response (DDR) molecules, which rapidly localize at the sites of DNA double-strand breaks forming nuclear foci (NF) to co-operatively activate p53

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0630
Volume/Issue:
Volume 10: Issue 3
Open access
Shiori Minabe Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Yahaba, Japan

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Kinuyo Iwata Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Youki Watanabe Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Hirotaka Ishii Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Hitoshi Ozawa Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
Faculty of Health Science, Bukkyo University, Kyoto, Japan

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neuroendocrine mechanisms are unknown. The kisspeptin-GPR54 system has been considered a central reproductive mechanism because the mutations of Gpr54 (a kisspeptin receptor gene) and Kiss1 (a kisspeptin gene) in human and rodent models cause puberty

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0307
Volume/Issue:
Volume 12: Issue 1
Open access
Ruth Therese Casey Department of Endocrinology, University of Cambridge, Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Deborah Saunders East Anglian Regional Radiation Protection Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Benjamin George Challis Department of Endocrinology, University of Cambridge, Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Deborah Pitfield Department of Endocrinology, University of Cambridge, Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Heok Cheow Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Ashley Shaw Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Helen Lisa Simpson Wolfson Diabetes and Endocrine Clinic, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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exposure to diagnostic doses of ionising radiation in patients with a pre-existing cancer susceptibility syndrome has not been well studied. There is evidence to suggest that patients with mutations in genes involved in DNA repair or tumour suppression may

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0006
Volume/Issue:
Volume 6: Issue 3
Open access
Peng Fan Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Chao-Xia Lu McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Di Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Kun-Qi Yang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Pei-Pei Lu Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Ying Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xu Meng Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Su-Fang Hao Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Fang Luo Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Ya-Xin Liu Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Hui-Min Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lei Song Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Jun Cai Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xue Zhang McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xian-Liang Zhou Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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as severe hypertension with early penetrance, hypokalemia, decreased plasma concentration of renin and aldosterone and metabolic alkalosis. Mutations of the epithelial sodium channel (ENaC) genes are capable of increasing Na + reabsorption in the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0484
Volume/Issue:
Volume 7: Issue 12
Open access