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Irfan Vardarli 5th Medical Department, Division of Endocrinology and Diabetes, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany

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Susanne Tan 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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Rainer Görges Department of Nuclear Medicine, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Bernhard K Krämer 5th Medical Department, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany

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

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Christoph Brochhausen Institue of Pathology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany

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, fusions, abnormal gene expression, and point mutations in 112 genes associated with thyroid cancer ( 11 ). Concerning the performance of commercial molecular diagnostic tools for ITN, nine meta-analyses have been published ( 12 , 13 , 14 , 15 , 16

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-24-0170
Volume/Issue:
Volume 13: Issue 7
Open access
Luca Persani Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Martine Cools Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

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Stamatina Ioakim Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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S Faisal Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom

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Silvia Andonova National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria

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Magdalena Avbelj-Stefanija Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia

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Federico Baronio Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

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Jerome Bouligand Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France

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Hennie T Bruggenwirth Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands

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Justin H Davies Faculty of Medicine, University of Southampton, Southampton, United Kingdom

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Elfride De Baere Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

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Iveta Dzivite-Krisane Children’s University Hospital, Riga, Latvia

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Paula Fernandez-Alvarez Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain

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Alexander Gheldof Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium

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Claudia Giavoli Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Claus H Gravholt Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark

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Olaf Hiort University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany

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Paul-Martin Holterhus University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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Anders Juul Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark

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Csilla Krausz Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy

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Kristina Lagerstedt-Robinson Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden

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Ruth McGowan Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom

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Uta Neumann Charité Medicine University, Berlin, Germany

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Antonio Novelli Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy

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Xavier Peyrassol Universitè Libre di Bruxelles, Brussels, Belgium

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Leonidas A Phylactou Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

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Julia Rohayem University Hospital Münster, Munster, Germany

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Philippe Touraine Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France

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Dineke Westra Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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Valeria Vezzoli Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Raffaella Rossetti Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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give details on the list of candidate genes included in the custom or virtual panel. Note the highly variable number of genes included in the custom panels. Twenty-one HCPs declared to perform these analyses for diagnostic purposes. The

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0367
Volume/Issue:
Volume 11: Issue 12
Open access
Nathalia Liberatoscioli Menezes Andrade Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Mariana Ferreira de Assis Funari Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexsandra Christianne Malaquias Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Paulo Ferrez Collett-Solberg Disciplina de Endocrinologia, Departamento de Medicina Interna, Faculdade de Ciências Medicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brasil

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Nathalia L R A Gomes Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Renata Scalco Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Naiara Castelo Branco Dantas Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Raissa C Rezende Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Angelica M F P Tiburcio Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Micheline A R Souza Serviço de Endocrinologia do Instituto de Puericultura e Pediatria Martagao Gesteira/Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil

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Bruna L Freire Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Ana C V Krepischi Centro de Pesquisa em Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de Sao Paulo, São Paulo, Brasil

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Carlos Alberto Longui Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Antonio Marcondes Lerario Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Gabriela Andrade Vasques Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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gestational age (SGA) or children with syndromic short stature. Thus, the present study aimed to evaluate a large number of homogeneous children classified as ISS, using a targeted gene panel as part of the initial investigation. We evaluated the diagnostic

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0214
Volume/Issue:
Volume 11: Issue 12
Open access
Dongyan Han Department of Pathology, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

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Min Ding Department of General Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Rongli Xie Department of General Surgery, RuiJin Hospital Lu Wan Branch, Shanghai Jiaotong University School of Medicine, Shanghai, China

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Zhengshi Wang Thyroid Center, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

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Guohui Xiao Department of General Surgery, Pancreatic Disease Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Xiaohong Wang Shanghai Rigen Biotechnology Co., Ltd. Shanghai, China

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Lei Dong Department of Pathology, Shanghai Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Zhiqiang Yin Thyroid Center, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

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Jian Fei Department of General Surgery, Pancreatic Disease Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Research Institute of Pancreatic Diseases, Shanghai Jiao Tong University School of Medicine, Shanghai, China
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Shanghai Jiao Tong University, Shanghai, China
Institute of Translational Medicine, Shanghai Jiao Tong University, Shanghai, China

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a sample. Mutation type, cytology, surgical pathology, age, and sex are shown by a different color in each sample. Figure 2 The detection rate of related genes in all variants. Comparison of the diagnostic effectiveness

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-23-0135
Volume/Issue:
Volume 12: Issue 8
Open access
Danielle Christine Maria van der Kaay Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Anne Rochtus Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium

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

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Ingo Kurth Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Dirk Prawitt Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany

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Irène Netchine Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

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Gudmundur Johannsson Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden

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Anita C S Hokken-Koelega Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Miriam Elbracht Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Thomas Eggermann Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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-based assays and their implementation in human genetic diagnostic settings, this major disadvantage of single locus testing is circumvented since a bundle of genes up to the whole genome can be analyzed in the same run now. In routine diagnostics, different NGS

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0277
Volume/Issue:
Volume 11: Issue 11
Open access
Yao Chen Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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Shu-ying Fang Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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insulin resistance ( 11 ). Current studies of the genetics of PCOS mainly concentrate on multiple candidate genes, benefiting from the advances in technology including the completed HapMap project and genome-wide scans. Candidate genes are usually chosen

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0121
Volume/Issue:
Volume 7: Issue 5
Open access
L A Hughes West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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K McKay-Bounford West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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E A Webb Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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P Dasani West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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S Clokie West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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H Chandran Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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L McCarthy Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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Z Mohamed Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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J M W Kirk Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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N P Krone Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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S Allen West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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T R P Cole West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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diagnostic yield and clinical utility in predominantly 46,XY DSD cohorts using panels of 64–219 genes. We present our data showing sequence analysis of a cohort of 80 DSD patients using a 30-gene panel. Materials and methods Patients Eighty

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0376
Volume/Issue:
Volume 8: Issue 2
Open access
Tian Zhou School of Clinical Medicine, GuiZhou Medical University, Guiyang, Guizhou, China
Department of Breast Surgery, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, China

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Dai-wei Zhao School of Clinical Medicine, GuiZhou Medical University, Guiyang, Guizhou, China
Department of Surgery, Second People's Hospital of Guizhou Province, Guiyang, Guizhou, China

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Ning Ma School of Clinical Medicine, GuiZhou Medical University, Guiyang, Guizhou, China

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Xue-ying Zhu School of Clinical Medicine, GuiZhou Medical University, Guiyang, Guizhou, China

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Xing-hong Chen Department of Surgery, Second People's Hospital of Guizhou Province, Guiyang, Guizhou, China

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Xue Luo Department of Breast Surgery, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, China

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Song Chen School of Clinical Medicine, GuiZhou Medical University, Guiyang, Guizhou, China

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Qing-jun Gao Department of Thyroid Surgery, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, China

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visualization. The receiver operating characteristic curve analysis and expression analysis We used the pROC R package ( 27 ) to construct receiver operating characteristic (ROC) curves. The diagnostic values of hub genes were evaluated using the area

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-22-0390
Volume/Issue:
Volume 12: Issue 4
Open access
Ishita Gupta Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Allal Ouhtit Department of Biological and Environmental Sciences, College of Arts and Sciences, Qatar University, Doha, Qatar

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Adil Al-Ajmi Department of Surgery, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Syed Gauhar A Rizvi Department of Family Medicine and Public Health, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Hamad Al-Riyami Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Marwa Al-Riyami Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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Yahya Tamimi Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Alkoudh, Sultanate of Oman

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the onset of breast cancer either independently or in association with BRCA1/2 , such as the role played by genetic modifiers ( 22 ) that could represent useful diagnostic markers or targets for therapeutic purposes. One potential candidate gene

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0173
Volume/Issue:
Volume 7: Issue 1
Open access
Yali Cheng Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Qiaoying Lv Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Bingying Xie Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Bingyi Yang Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Weiwei Shan Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Chengcheng Ning Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Bing Li Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Liying Xie Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Chao Gu Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Xuezhen Luo Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Xiaojun Chen Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China

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Qin Zhu Department of Pathology, Obstetrics and Gynecology, Hospital of Fudan University, Shanghai, China

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data provided potential diagnostic molecular markers for high-fat diet and estrogen-induced endometrial lesions. Figure 4 Aberrantly expressed genes analysis based on TCGA data. (A) Genetic alterations. Red represents amplification, blue

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0315
Volume/Issue:
Volume 7: Issue 1
Open access