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Nancy J Olsen Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

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Ann L Benko Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

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William J Kovacs Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

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hormonal excess or deficiency states. Inherited variation in the androgen receptor ( AR ) gene affects androgen action. Deleterious mutations in AR can result in syndromes ranging from mild abnormalities to total failure of normal male phenotypic

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0039
Volume/Issue:
Volume 3: Issue 2
Open access
Susana Pastor Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Abdelmounaim Akdi Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Eddy R González Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Juan Castell Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Josefina Biarnés Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Ricard Marcos Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Antonia Velázquez Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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, 12) . Polymorphic variations in the FOXE1 and NKX2-1 genes, both involved in thyroid function and development of the thyroid gland, have also been reported to be associated with the risk of thyroid cancer (10, 13, 14) . Furthermore, common

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-12-0017
Volume/Issue:
Volume 1: Issue 2
Open access
Malgorzata Oczko-Wojciechowska Department of Genetic and Molecular Diagnostics of Cancer, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Agnieszka Czarniecka Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Tomasz Gawlik Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Barbara Jarzab Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Jolanta Krajewska Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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. Next generation sequencing ( NGS ) in MTC Currently, NGS is routinely used in molecular diagnostics of the whole exons of one gene (e.g., the RET gene mutations) or a few selected genes involved in developing the disease. Surprisingly, the first

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0374
Volume/Issue:
Volume 9: Issue 12
Open access
Angela Köninger
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Philippos Edimiris
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Laura Koch
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Antje Enekwe
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Claudia Lamina Department of Gynecology and Obstetrics, Division of Genetic Epidemiology, Vitateq Biotechnology GmbH, University of Duisburg-Essen, D-45122 Essen, Germany

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Sabine Kasimir-Bauer
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Rainer Kimmig
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Hans Dieplinger Department of Gynecology and Obstetrics, Division of Genetic Epidemiology, Vitateq Biotechnology GmbH, University of Duisburg-Essen, D-45122 Essen, Germany
Department of Gynecology and Obstetrics, Division of Genetic Epidemiology, Vitateq Biotechnology GmbH, University of Duisburg-Essen, D-45122 Essen, Germany

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confirmed, when two of the following three diagnostic criteria are present: i) hyperandrogenism, ii) polycystic ovaries with ≥12 sonographically measured small follicles with a diameter between 2 and 9 mm and/or an ovarian volume >10 ml, and iii) oligo- or

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0053
Volume/Issue:
Volume 3: Issue 3
Open access
Mark J C van Treijen Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
Center for Neuroendocrine Tumors, ENETS Center of Excellence, Netherlands Cancer Institute, University Medical Center Utrecht, Utrecht, The Netherlands

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Catharina M Korse Center for Neuroendocrine Tumors, ENETS Center of Excellence, Netherlands Cancer Institute, University Medical Center Utrecht, Utrecht, The Netherlands
Department of Clinical Chemistry, The Netherlands Cancer Institute, Amsterdam, The Netherlands

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Wieke H Verbeek Center for Neuroendocrine Tumors, ENETS Center of Excellence, Netherlands Cancer Institute, University Medical Center Utrecht, Utrecht, The Netherlands
Department of Gastroenterology, The Netherlands Cancer Institute, Amsterdam, The Netherlands

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Margot E T Tesselaar Center for Neuroendocrine Tumors, ENETS Center of Excellence, Netherlands Cancer Institute, University Medical Center Utrecht, Utrecht, The Netherlands
Department of Medical Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands

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Gerlof D Valk Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
Center for Neuroendocrine Tumors, ENETS Center of Excellence, Netherlands Cancer Institute, University Medical Center Utrecht, Utrecht, The Netherlands

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increased over the past decades, most likely because of improvements in diagnostic techniques and disease awareness ( 1 , 2 , 3 ). GEPNETs are grouped based on their shared neuroendocrine markers and proteins, such as chromogranin and synaptophysin, but

Article Type:
Research Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-22-0146
Volume/Issue:
Volume 11: Issue 10
Open access
Irfan Vardarli Department of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Recklinghausen, Germany

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Manuel Weber Department of Nuclear Medicine, University Hospital Essen, Essen, Germany

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Frank Weidemann Department of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Recklinghausen, Germany

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Dagmar Führer Department of Endocrinology, Diabetes and Metabolism, Clinical Chemistry – Division of Laboratory Research; Endocrine Tumor Center at WTZ/Comprehensive Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Ken Herrmann Department of Nuclear Medicine, University Hospital Essen, Essen, Germany

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Rainer Görges Department of Nuclear Medicine, University Hospital Essen, Essen, Germany

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identified in their last search for inclusion. A meta-analysis on this subject has not been published until now. Therefore, we performed this meta-analysis to elucidate the diagnostic accuracy of routine serum calcitonin measurement for detection of MTC in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0030
Volume/Issue:
Volume 10: Issue 3
Open access
Elena Pardi Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Stefano Mariotti Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Natalia S Pellegata Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Katiuscia Benfini Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Simona Borsari Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Federica Saponaro Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Liborio Torregrossa Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Antonello Cappai Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Chiara Satta Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Marco Mastinu Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Claudio Marcocci Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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Filomena Cetani Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

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gene – the main molecular defect causing the MEN1 syndrome – have been detected in about 70–80% and 30% of patients with familial and sporadic MEN1 respectively (3) . The percentage in familial MEN1 rises to 90% if a search for large germline deletions

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0116
Volume/Issue:
Volume 4: Issue 1
Open access
Zi-Di Xu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Wei Zhang Department of Children Health Care, Xiamen Maternal and Child Health Hospital, Xiamen, China

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Min Liu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Huan-Min Wang Department of Surgical Oncology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Pei-Pei Hui Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Xue-Jun Liang Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Jie Yan Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Yu-Jun Wu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Yan-Mei Sang Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Cheng Zhu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Gui-Chen Ni Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Congenital hyperinsulinism (CHI) is a kind of genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration ( 1 ). To date, 14 genes ( ABCC8

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0240
Volume/Issue:
Volume 7: Issue 12
Open access
Filomena Cetani Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Chiara Banti Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Elena Pardi Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Simona Borsari Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Paolo Viacava Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Paolo Miccoli Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Liborio Torregrossa Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Fulvio Basolo Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Maria Rosa Pelizzo Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Massimo Rugge Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Gianmaria Pennelli Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Guido Gasparri Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Mauro Papotti Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Marco Volante Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Edda Vignali Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Federica Saponaro Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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Claudio Marcocci Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

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reported by Haven et al . (18) . Following the demonstration of CDC73 mutations in PC, several studies were carried out to evaluate whether immunostaining of parafibromin, the gene product, might have some diagnostic utility. Diffuse or focal loss of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0046
Volume/Issue:
Volume 2: Issue 4
Open access
Meihua Jin Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Woo Kyung Lee Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Mi-Hyeon You Asan Institute of Life Science, Asan Medical Center, Seoul, Korea

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Ahreum Jang Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Sheue-yann Cheng Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Won Gu Kim Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Min Ji Jeon Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yu-Mi Lee Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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expression. Analysis of TCGA data Transcriptomes and matched clinicopathological data from thyroid cancers deposited in The Cancer Genome Atlas (TCGA-THCA) were used to explore the biological and clinical significance of the SHMT2 gene. To do this

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0135
Volume/Issue:
Volume 10: Issue 6
Open access