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 and at the heart of this programme is a DSD register that supports the sharing of DSD data. This register has attracted much interest and has evolved into an international register, now funded by the MRC.
At last review (November 2011) there were 1000 cases on the register, and users from 36 centres in 22 countries across 6 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 commonest disorder type is disorders of androgen action (n=282) followed by disorders of gonadal development (n=216). 60% (n=598) cases are assigned female sex and 40% (n=402) are assigned male sex. There are 19 males with 46XX karyotype and 402 females with 46XY karyotype on the register. There was a history of infertility or parental consanguinity in 7% (n=74) and 10% (n=102) respectively. Associated malformations were present in 25% (n=249) cases. Samples are available in 40% (n=402) cases. The majority of cases had a 46XY karyotype (n=735), followed by a 46XX karyotype (n=183). Mosaicism was present in 6% (n=59) cases and a sex chromosome abnormality was present in 1% (n=10) cases.
The register has continued to grow and develop into an international research environment within which professionals can develop new DSD related studies.
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