ECE2014 Symposia Clinical outcome of medical intervention in Disorder of Sex Development (DSD) (3 abstracts)
dsd-LIFE: clinical European outcome study of disorders of sex development
Birgit Köhler 1 , Wiebke Arlt 2 , Claire Bouvattier 3 , Pierre Chatelain 4 , Hedi Claahsen van der Grinten 5 , Peggy Cohen-Kettenis 6 , Anna Nordenström 7 , Catherine Pienkowski 8 , Annette Richter-Unruh 9 , Jolanta Slowikowska-Hilczer 10 , Maria Szarras-Capnik 11 , Nicole Reisch 12 , Charles Sultan 13 , Ute Thyen 14 & Claudia Wiesemann 15
1Charité Universitätsmedizin, Berlin, Germany; 2University of Birmingham, Birmingham, UK; 3Hôpital Bicêtre, Paris, France; 4Hôpital Mère-Enfant, Lyon, France; 5Radboud University, Nijmegen, The Netherlands; 6Medical Center Neurscience Campus, Amsterdam, The Netherlands; 7Karolinksa Institutet, Stockholm, Sweden; 8Centre Hospitalier, Toulouse, France; 9Wilhelms-Universität, Münster, Germany; 10Medical University, Lodz, Poland; 11Children’s Memorial Health Institute, Warsaw, Poland; 12Ludwig-Maximilians Universität, Munich, Germany; 13Centre Hospitalier, Montpellier, France; 14Universität zu Lübeck, Lübeck, Germany; 15Universitätsmedizin, Göttingen, Germany.
Disorders of sex development (DSD) include a conglomerate of rare conditions with discrepancy of the chromosomal, gonadal or phenotypic sex. Since the last 2 decades the genetic causes and the pathogenesis have been identified in many patients with DSD. Multidisciplinary clinical care as decision on the sex of rearing, genital surgery, hormone therapies and psychological support has a life-long impact on the affected persons. However, previous clinical outcome studies of DSD were hampered by small patient numbers, different outcome measures and conglomerates of diagnoses.
dsd-LIFE is a comprehensive clinical outcome study investigating quality of life, psychological well-being, psychosexual issues, health status, patients’ views, ethical points and cultural differences in a representative number of individuals with different types of DSD. The dsd-LIFE consortium consists of 15 multidisciplinary European centers of dsd care and ethics, and collaborates closely with local support groups. Patients with the different types of 1. sex chromosome, 2. XY and 3. XX DSD will be evaluated: 1. Turner syndrome, Klinefelter syndrome, mixed gonadal dysgenesis (45,X0/46,XY); 2. testicular dysgenesis, disturbances of testosterone synthesis or action; 3. ovarian dysgenesis, congenital adrenal hyperplasia. Recruitment and evaluation of patients takes place from January 2014 to June 2016.
On basis of the received data clinical European guidelines will be developed for the different subgroups of DSD.
Moreover, dissemination of general knowledge about DSD to the public will be enhanced through the project.
Declaration of funding
dsd-LIFE is funded by the European Union, FP7, grant no: 305373, 2012-2016, coordination PD Dr Birgit Köhler, Charité, website: www.dsd-life.eu/
Volume 35
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more