GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

DOI Web Site XML 被引用文献3件
  • L Audí
    1Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain
  • S F Ahmed
    2Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
  • N Krone
    3Academic Unit of Child Health, Department of Oncology and Metabolism, University of Sheffield, Sheffield Children’s Hospital, Western Bank, Sheffield, UK
  • M Cools
    4Department of Paediatric Endocrinology, Ghent University Hospital, Paediatrics and Internal Medicine Research Unit, Ghent University, Ghent, Belgium
  • K McElreavey
    5Human Developmental Genetics, Institut Pasteur, Paris, France
  • P M Holterhus
    6Division of Pediatric Endocrinology and Diabetes, University Hospital of Schleswig-Holstein and Christian Albrechts University, Kiel, Germany
  • A Greenfield
    7Mammalian Genetics Unit, Medical Research Council, Harwell Institute, Oxfordshire, UK
  • A Bashamboo
    5Human Developmental Genetics, Institut Pasteur, Paris, France
  • O Hiort
    8Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany
  • S A Wudy
    9Division of Pediatric Endocrinology and Diabetology, Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany
  • R McGowan
    2Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
  • _ _

この論文をさがす

説明

<jats:p>The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical, hormonal and genetic workups. This position paper of EU COST (European Cooperation in Science and Technology) Action BM1303 ‘DSDnet’ was written by leading experts in the field and focuses on current best practice in genetic diagnosis in DSD patients. Ascertainment of the karyotpye defines one of the three major diagnostic DSD subclasses and is therefore the mandatory initial step. Subsequently, further analyses comprise molecular studies of monogenic DSD causes or analysis of copy number variations (CNV) or both. Panels of candidate genes provide rapid and reliable results. Whole exome and genome sequencing (WES and WGS) represent valuable methodological developments that are currently in the transition from basic science to clinical routine service in the field of DSD. However, in addition to covering known DSD candidate genes, WES and WGS help to identify novel genetic causes for DSD. Diagnostic interpretation must be performed with utmost caution and needs careful scientific validation in each DSD case.</jats:p>

収録刊行物

被引用文献 (3)*注記

もっと見る

問題の指摘

ページトップへ