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Helene Bandsholm Leere Tallaksen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Emma B Johannsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Jesper Just Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Mette Hansen Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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transcriptome and methylome in different cell types ( 64 ). The potentials of animal models in SCAs Animal models have been useful as a tool to investigate the genetics behind diverse diseases and clinical manifestations in humans. In SCAs, various mouse

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0011
Volume/Issue:
Volume 12: Issue 9
Open access
Sophie-Charlotte Drogge Institute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Mirjam Frank Institute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Carolin Girschik Institute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Karl-Heinz Jöckel Institute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Dagmar Führer-Sakel Department of Endocrinology, Diabetes and Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Börge Schmidt Institute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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-specific differences in the regulation of thyroid function . PLoS Genetics 2013 9 e1003266. ( https://doi.org/10.1371/journal.pgen.1003266 ) 19 Zhou W Brumpton B Kabil O Gudmundsson J Thorleifsson G Weinstock J Zawistowski M Nielsen JB Chaker L

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-22-0127
Volume/Issue:
Volume 12: Issue 2
Open access
M I Stamou Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA

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P Varnavas Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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L Plummer Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA

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V Koika Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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N A Georgopoulos Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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silico functional analysis can only provide with supporting evidence of pathogenicity, a thorough evaluation of the detected variants was undertaken based on the recently published criteria by the American College of Medical Genetics and the discovered

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0010
Volume/Issue:
Volume 8: Issue 5
Open access
Stavroula A Paschou Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Nektaria Papadopoulou-Marketou Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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George P Chrousos Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Christina Kanaka-Gantenbein Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Esposito L Dunn MG Johnson GC Timms AE Goy JV Smith AN Sebag-Montefiore L Merriman ME Wilson AJ , et al . A search for type 1 diabetes susceptibility genes in family from the United Kingdom . Nature Genetics 1998 19 297 – 300 ( https://doi.org/10

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-17-0347
Volume/Issue:
Volume 7: Issue 1
Open access
Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

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Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Davide Carvalho Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal

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Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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hypogonadotropic hypogonadism . Nature Genetics 1998 18 14 – 15 . ( doi:10.1038/ng0198-14 ) 5 Chevrier L Guimiot F de Roux N. GnRH receptor mutations in isolated gonadotropic deficiency . Molecular and Cellular Endocrinology 2011 346 21

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
K G Samsom Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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L M van Veenendaal Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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G D Valk Department of Endocrine Oncology, University Medical Centre Utrecht, Utrecht, The Netherlands

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M R Vriens Department of Surgical Oncology and Endocrine Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands

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M E T Tesselaar Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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J G van den Berg Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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; NGS, next-generation sequencing; OR, odds ratio; PFS, progression-free survival; SNV, somatic single variants; WT, wildtype. Genetics of SI-NETs Chromosomal aberrations From genomic profile studies, two different groups of SI-NETs can

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0206
Volume/Issue:
Volume 8: Issue 7
Open access
Maria Mizamtsidi Department of Endocrinology, Diabetes and Metabolism, Hellenic Red Cross Hospital, Athens, Greece

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Constantinos Nastos Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece

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George Mastorakos Unit of Endocrinology, Diabetes and Metabolism, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece

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Roberto Dina Department of Pathology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

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Ioannis Vassiliou Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece

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Maria Gazouli Department of Basic Medical Sciences, Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Fausto Palazzo Department of Thyroid and Endocrine Surgery, Imperial College London, London, UK

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Research 2002 17 N18 – N23 . 4 Thakker R. Genetics of parathyroid tumours . Journal of Internal Medicine 2016 280 574 – 583 . ( https://doi.org/10.1111/joim.12523 ) 5 Mallya SM Arnold A . Cyclin D1 in parathyroid disease . Frontiers in

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-17-0283
Volume/Issue:
Volume 7: Issue 2
Open access
Luis Eduardo Barbalho de Mello Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil
Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Thaise Nayane Ribeiro Carneiro Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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Aline Neves Araujo Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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Camila Xavier Alves Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Pedro Alexandre Favoretto Galante Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

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Vanessa Candiotti Buzatto Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

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Maria das Graças de Almeida Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil

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Karina Marques Vermeulen-Serpa Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Sancha Helena de Lima Vale Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil
Department of Nutrition, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Fernando José de Pinto Paiva Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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José Brandão-Neto Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Janete Maria Cerutti Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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available plugins via the Ensembl Variant Effect Predictor interface (ensembl.org/info/docs/tools/vep) such as Sorting Intolerant From Tolerant (SIFT, http://sift.jcvi.org ), Polymorphism Phenotyping v2 (Polyphen-2, http://genetics.bwh.harvard.edu/pph2

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-21-0406
Volume/Issue:
Volume 11: Issue 1
Open access
Debra M Gordon University of the Witwatersrand (WITS) Donald Gordon Medical Centre, Parktown, Johannesburg, South Africa

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Pablo Beckers Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Emilie Castermans Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Sebastian J C M M Neggers Department of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands

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Liliya Rostomyan Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Vincent Bours Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Patrick Petrossians Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Vinciane Dideberg Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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conspire to limit greatly the availability and use of clinical genetics, thereby hindering optimal management. For example, in sub-Saharan Africa, despite a significant and growing cancer burden, there is a relative dearth of information about underlying

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-21-0560
Volume/Issue:
Volume 11: Issue 1
Open access
Claus H Gravholt Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

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Alberto Ferlin Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy

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Joerg Gromoll Centre of Reproductive Medicine and Andrology, Münster, Germany

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Anders Juul Department of Growth and Reproduction Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark

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Armin Raznahan Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA

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Sophie van Rijn Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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Nicole Tartaglia Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Hanna Swaab Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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attended the workshop. Here, we present a summary of topics from keynote speakers but must also acknowledge additional oral and poster presentations of new science on myriad topics, many from promising young investigators. Genetics of supernumary sex

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0500
Volume/Issue:
Volume 12: Issue 3
Open access