Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Sex Dev DOI: 10.1159/000313434 The European Disorder of Sex Development Registry: A Virtual Research Environment S.F. Ahmed   a M. Rodie   a J. Jiang   b R.O. Sinnott   b a  Developmental Endocrinology Research Group, Royal Hospital for Sick Children, and b  National e-Science Centre, University of Glasgow, Glasgow, UK variation in how these patients are managed across the world. In addition, there are enormous gaps in our knowl- edge about the aetiology of these conditions and the long- term outcome in affected adults. The management of these patients requires multidisciplinary input, and, in- creasingly, this service is being delivered through organ- ised clinical networks which rely on research as a means of auditing and improving their service. The Consensus Workshop on DSD which was jointly hosted by the European Society of Paediatric Endocrinol- ogy (ESPE) and the Lawson Wilkins Pediatric Endocrine Society of North America stressed the need for the cre- ation and maintenance of a database in centres of exper- tise [Hughes et al., 2006]. Such databases do exist in many regional and national centres and have provided valuable insight into many aspects of DSD, including epidemiol- ogy [Ahmed et al., 2004], aetiology [Ahmed et al., 2000a; Gottlieb et al., 2004], variation of disease expression [Bebermeier et al., 2006], initial adjustment of parents to their affected child’s condition [Duguid et al., 2007], and long-term outcome [Lux et al., 2009]. However, these da- tabases and registers lack international uniformity and have not been integrated – a key feature particularly de- sirable when dealing with a rare group of conditions. With the initial help of ESPE and, more recently, from the European Union, a European web-based register and re- search environment for DSD has now been in operation for approximately 2 years. This infrastructure is current- ly helping the EuroDSD programme (www.eurodsd.com) Key Words Database  Intersex  Network Abstract Disorders of sex development (DSD) are a rare group of con- ditions which require further research. Effective research into understanding the aetiology, as well as long-term out- come of these rare conditions, requires multicentre collabo- ration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such colla- boration involving clinical centres and clinical and genetic experts across Europe. At the heart of the EuroDSD collabo- ration is a European DSD registry and a targeted virtual re- search environment (VRE) that supports the sharing of DSD data. Security, ethics and information governance are cor- nerstones of this infrastructure. This paper describes the in- frastructure that has been developed, the inherent challeng- es in security, availability and dependability that must be overcome for the enterprise to succeed and provides a sam- ple of the data that are stored in the registry along with a summary analysis of the current data sets. Copyright © 2010 S. Karger AG, Basel Suspected cases of a disorder of sex development (DSD) are usually present in early infancy with a variable abnormality of the development of the external and/or internal reproductive organs. There is a large amount of Published online: May 26, 2010 S. Faisal Ahmed, MD Department of Child Health Royal Hospital for Sick Children Glasgow G62 8NT (UK) Tel. +44 141 201 0571, Fax +44 141 201 0837, E-Mail s.f.ahmed  @  clinmed.gla.ac.uk © 2010 S. Karger AG, Basel 1661–5425/10/0000–0000$26.00/0 Accessible online at: www.karger.com/sxd