Introduction: Since 2000 understanding of biology of sex development increased tremendously thanks to genetic research. This lead to new classification for persons with disorders/differences of sex development (DSD) based on genetics, and guidelines from the UK recommend revising medical care for persons with DSD by setting up interdisciplinary DSD teams. In Switzerland, persons with DSD asked for better care, stimulating the Swiss National Ethics Commission in 2012 to recommend improved treatment of DSD persons. We aimed to describe the current situation of medical care of DSD in Switzerland.
Methods: A questionnaire was sent to pediatric endocrinologists of eight hospitals in Switzerland who were either part of the Working Group DSD of the Swiss Society for Pediatric Endocrinology and Diabetology (AG DSD SGPED) or committed to set up a DSD cohort. We asked them to estimate numbers of treated DSD persons, indicate specialists involved in DSD care and report DSD-related research projects.
Results: The eight clinics cover >85% of all newborns in Switzerland. Each year, around 24 newborns and 24 children and adolescents were diagnosed with complex DSD, e.g. ambiguous genitalia. In total, the eight clinics care for about 750 children with a DSD diagnosis according to the Chicago consensus classification. Of those, 90 had complex DSD, 130 congenital adrenal hyperplasia, and 130 Turner syndrome. Most clinics used the UK guidelines and 7/8 had established interdisciplinary DSD-teams including specialized pediatricians from many areas, geneticists, general psychologists or social counselors. Only few clinics had specialized psychologists, social counselors, nurses, or ethicists. Young adults with DSD were transitioned to adult medicine at age 1625 years, but it was unclear who can provide the optimal care for them, because there were hardly any adult physicians specialized on DSD. All participating clinics indicated to establish a Swiss DSD cohort, and several clinics had their own research projects, including basic science, ethics and epidemiology.
Conclusion: We identified gaps in psychological care, in the collaboration with adult medicine and with associations of DSD individuals, and in epidemiological monitoring of DSD. Few clinics had already included specialized psychologists in their DSD team. The new Swiss DSD cohort will help to answer open questions on epidemiology of DSD in Switzerland.
27 Sep 2018 - 29 Sep 2018