Transcript The International DSD Registry

The International DSD Registry
Bryce J1, Jiang J2, Rodie ME1, Watt, J2 & Ahmed SF1
1Section
of Child Health, University of Glasgow, Royal Hospital for Sick Children, Glasgow
2National e-Science Centre, University of Glasgow, Glasgow
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.
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)
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.
There were 19 males with 46XX karyotype on the Register and
410 females with 46XY karyotype
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
The majority of cases had a 46XY karyotype (n=760), followed by
a 46XX karyotype (n=188)
A sex chromosome abnormality was found in 1% (n=11) cases
Mosaicism was present in 6% (n=61) cases
Description of cases in the Register
Samples are available in 40% (n=420) cases
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
Figure 2: Disorder types on the Register
2008
2009
Conclusions
2010
2011
2012
Figure 1: Map showing countries & date of joining
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 ([email protected])
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