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Anne Jouinot Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Juliane Lippert Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Martin Fassnacht Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Comprehensive Cancer Center Mainfranken, University of Wuerzburg, Wuerzburg, Germany

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Bruno de La Villeon Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Amandine Septier Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Mario Neou Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Karine Perlemoine Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Silke Appenzeller Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Mathilde Sibony Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Pathology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Sébastien Gaujoux Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Bertrand Dousset Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Rossella Libe Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Lionel Groussin Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Cristina L Ronchi Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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Guillaume Assié Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Jérôme Bertherat Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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proliferative genes, a CpG island hypermethylation, a ‘Noisy’ chromosome alteration profile – that is, numerous and anarchic alterations – and an accumulation of mutations in p53/Rb and Wnt/β-catenin-related genes. This subgroup is associated with very poor

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0228
Volume/Issue:
Volume 9: Issue 7
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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, 79 ) and slightly decreased IQ ( 80 ). Also an increased referral to psychiatric treatment has been found ( 81 ). A survey for sex-chromosome alterations among patients with schizophrenia found a four- to five-fold excess of patients with Klinefelter

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0500
Volume/Issue:
Volume 12: Issue 3
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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today, clinicians can either order targeted single locus tests (e.g. SHOX ), or cytogenomic tests to identify chromosomal alterations (see Table 2 ; e.g. in patients suspicious for Turner or Klinefelter syndrome) in case of patients with specific

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0277
Volume/Issue:
Volume 11: Issue 11
Open access