The International DSD Network (I-DSD)

Development of the sex organs is a very complicated process and sometimes it does not occur as planned. It is not completely clear as to how often the problem occurs but we think that for every 250 children born there may be one affected child. The severity of the problem varies, with the more severe problems happening much less often. Some may need to undergo tests so that we can find out more about the condition and some may need one or more operations. The need for these procedures may vary from one affected person to another. In addition, these conditions are often managed in slightly different ways in different places and it is not clear whether these differences in practice are important. To improve and maintain the best standard of practice we want to keep a brief and secure record of some of the affected persona??s care and from time to time invite the affected person to take part in studies which have been approved by hospitals. Some conditions are very rare and the only way we can improve our knowledge is to discuss cases and share experience with other specialists in the UK, the European Union and even beyond. With the help of the EU, a group of people at the University of Glasgow have developed a special secure register which contains brief, non-identifiable information on over 700 people with a range of conditions, which are collectively called disorders of sex development (DSD). This international register of DSD (I-DSD) has been helping doctors and scientists in pooling their knowledge and experience and it will help them in the future from doing the right studies. Not only does I-DSD need to be maintained and developed further, it also needs to develop a panel which oversees its use. The funding that is currently being sought will support I-DSD for the next 5 years so that researchers in the UK as well as elsewhere can work with doctors at improving the long-term outlook for affected children and adults.

Disorders of sex development (DSD) include a range of rare diseases that pose a clinical challenge because of poor standardization and understanding of the value of diagnostic investigations, differences in clinical practice and a gap in knowledge about the links between aetiology, clinical practice and long-term clinical outcome.

Recent advances in information, clinical and basic sciences coupled with a greater drive for multicentre collaboration have raised the prospects for managing patients with these conditions. However, there is a need to harness all these initiatives so that common goals can be defined and reached. For DSD, this has already started to occur through regional and national networks of clinical and research excellence and more, recently, through the EuroDSD programme of research (www.eurodsd.eu).

The European DSD Register funded initially by the European Society of Paediatric Endocrinology (www.eurospe.org), and, subsequently by EUFP7, is a cornerstone of the EuroDSD programme. It allows clinicians and researchers to interact in a secure, virtual research environment (VRE) where the data are stored with parent, patient and clinician approval. Interest in the VRE is now extending beyond Europe and across a wider group of clinical and scientific disciplines. Currently, 23 centres in 16 countries from 4 continents have expressed an interest in using the Register and 12 centres in 9 countries from 2 continents are actively using the Register which contains over 700 cases.

We wish to sustain this unique and successful resource for research and extend its use beyond the original partners of the EuroDSD programme. In undertaking this, we wish to maintain and extend the clinical and research network and translate its efforts into improving standards of clinical care. This will be achieved through maintenance and further development of the VRE and regular meetings of the DSD network aimed at closer involvement of clinicians and patients in the research that arises from the Register.