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Addressing gaps in care of people with conditions affecting sex development and maturation

Authors
  • Hiort, Olaf1
  • Cools, Martine2, 3
  • Springer, Alexander4
  • McElreavey, Ken5
  • Greenfield, Andy6
  • Wudy, Stefan A.7
  • Kulle, Alexandra8
  • Ahmed, S. Faisal9
  • Dessens, Arianne10
  • Balsamo, Antonio11
  • Maghnie, Mohamad12
  • Bonomi, Marco13, 14
  • Dattani, Mehul15
  • Persani, Luca13, 14
  • Audi, Laura16
  • 1 University of Lübeck and University Hospital of Schleswig-Holstein, Campus Lübeck, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Lübeck, Germany , Lübeck (Germany)
  • 2 Ghent University Hospital, Department of Paediatric Endocrinology, Ghent, Belgium , Ghent (Belgium)
  • 3 Ghent University, Department of Internal Medicine and Paediatrics, Ghent, Belgium , Ghent (Belgium)
  • 4 Medical University of Vienna, Department of Paediatric Surgery, Interdisciplinary Centre for Paediatric Urology, Vienna, Austria , Vienna (Austria)
  • 5 Institut Pasteur, Human Developmental Genetics, Department of Developmental and Stem Cell Biology, Paris, France , Paris (France)
  • 6 MRC Harwell Institute, Mammalian Genetics Unit, Oxfordshire, UK , Oxfordshire (United Kingdom)
  • 7 Justus Liebig University, Centre for Child and Adolescent Medicine, Giessen, Germany , Giessen (Germany)
  • 8 Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Division of Paediatric Endocrinology and Diabetes, Kiel, Germany , Kiel (Germany)
  • 9 University of Glasgow, Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, Glasgow, UK , Glasgow (United Kingdom)
  • 10 Erasmus Medical Centre – Sophia, Department of Child and Adolescent Psychiatry and Psychology, Rotterdam, The Netherlands , Rotterdam (Netherlands)
  • 11 S. Orsola-Malpighi University Hospital, Paediatric Endocrinology Unit, External Consultant of the Reference Centre for Rare Endocrine Conditions, Bologna, Italy , Bologna (Italy)
  • 12 University of Genova, Department of Paediatrics, IRCCS, Istituto Giannina Gaslini, Genova, Italy , Genova (Italy)
  • 13 University of Milan, Department of Clinical Sciences and Community Health, Milan, Italy , Milan (Italy)
  • 14 Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy , Milan (Italy)
  • 15 Great Ormond Street Institute of Child Health, Molecular Basis of Rare Disease Section, Genetics and Genomic Medicine Programme, University College London, London, UK , London (United Kingdom)
  • 16 Vall d’Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Growth and Development Research Unit, Barcelona, Spain , Barcelona (Spain)
Type
Published Article
Journal
Nature Reviews Endocrinology
Publisher
Springer Nature
Publication Date
Aug 12, 2019
Volume
15
Issue
10
Pages
615–622
Identifiers
DOI: 10.1038/s41574-019-0238-y
Source
Springer Nature
License
Yellow

Abstract

The COST programme funded two European Actions for the systematic elucidation of differences of sex development and congenital hypogonadotropic hypogonadism. In this Perspective article, the authors describe the achievements of these two related COST Actions and highlight the gaps in research.

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