The European DSD register: a platform for International Collaborative Research
Martina Rodie1, Richard Sinnott2, Jipu Jiang2 & Faisal Ahmed1
Effective research into understanding the aetiology of disorders of sex development (DSDs), as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such collaboration involving clinical centres and clinical and genetic experts. At the heart of the EuroDSD collaboration is a DSD register that supports the sharing of DSD data.
At last review (July 2011) there were 938 cases on the register from 36 centres in 22 countries across six continents. The United Kingdom has the largest number of cases on the register (n=247) followed by The Netherlands (n=179). The age of presentation ranges from <1 month to 53 years, with a median age of presentation of 10 years. The median year of birth is 1995 (range 19272011). The commonest disorder type is disorders of androgen action (n=282) followed by disorders of gonadal development (n=216). Fifty-nine percent (n=553) cases are assigned female sex and 41% (n=385) are assigned male sex. There are 18 males with 46XX karyotype and 380 females with 46XY karyotype on the register. There was a history of infertility or parental consanguinity in 7% (n=68) and 11% (n=101) respectively. Associated malformations were present in 25% (n=238) cases. Samples are available in 40% (n=377) cases. The majority of cases had a 46XY karyotype (n=690), followed by a 46XX karyotype (n=158). Mosaicism was present in 6% (n=57) cases and a sex chromosome abnormality was present in 1% (n=8) cases.
The register has attracted much interest internationally recently and is changing from a European initiative to an international activity. It provides a virtual research environment within which clinicians can interact with each other as well as with investigators and develop new DSD related studies.