Introduction & Aims

1. 2008 2009 2010 2011 2012 Introduction & Aims 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 and across multiple clinical and research disciplines. Between 2008 and 2011, the DSD Registry was at the heart of the EuroDSD collaboration for supporting the sharing of data. This Virtual Research Environment will continue to form a platform for research in DSD under funding from MRC. The Registry adheres to the highest standards of data governance and security and has attracted much interest, changing from a European initiative to an international activity Description of cases in the Register At last review (Sept, 2012) there were 1050 cases on the Register, added by registered users from 20 centres in 14 countries across 3 continents (Figure 1) A further 33 centres and 14 countries have registered as users (with intentions to upload cases or conduct resear4ch studies) covering all 6 habitable continents The age of first presentation ranges from <1 month to 53 years with a median age of presentation of 10 years, the median year of birth was 1995 (range 1927-2011) 59% (n=616) cases were assigned female sex and 41% (n=434) were assigned male sex There was a history of infertility or parental consanguinity in 7% (n=77) and 10% (n=107) respectively Associated malformations were present in 25% (n=261) cases The commonest disorder type on the Register continues to be disorders of androgen action (n=309) followed by disorders of gonadal development (n=241) (Figure 2) There were 19 males with 46XX karyotype on the Register and 410 females with 46XY karyotype A sex chromosome abnormality was found in 1% (n=11) cases The majority of cases had a 46XY karyotype (n=760), followed by a 46XX karyotype (n=188) Mosaicism was present in 6% (n=61) cases Samples are available in 40% (n=420) cases Conclusions The Registry is continuing to grow and provide a platform for international collaborative research on these rare disorders The I-DSD Registry is open to new researchers and clinical contributors and interested parties can register to use the Registry at www.i-dsd.org In case of enquiries please contact the I-DSD Project Manager, Jillian Bryce (Jillian.Bryce@glasgow.ac.uk) The International DSD RegistryBryce J1,Jiang J2, Rodie ME1, Watt, J2 & Ahmed SF11Section of Child Health, University of Glasgow, Royal Hospital for Sick Children, Glasgow2National e-Science Centre, University of Glasgow, Glasgow Figure 2: Disorder types on the Register Figure 1: Map showing countries & date of joining The I-DSD Registry was developed by funding from the European Community FP7/2007–2013 under grant agreement no.201444 (EuroDSD) and is supported by MRC award G1100236