Background: Effective clinical care and research in disorders of sex development (DSD), as well as assessment of long-term outcome of these rare conditions, requires multicentre collaboration across national boundaries and across multiple clinical and research disciplines. This registry is currently funded by the UK MRC as the International DSD Registry (www.i-dsd.org) which adheres to the highest standards of data governance and security. From this platform, the I-CAH Registry has also been developed to support research and improvement in clinical care of patients with congenital adrenal hyperplasia.
Results: In February 2014, there were 1300 cases added by registered users from 31 centres in 19 countries across four continents. A further 65 centres from 26 countries covering all six habitable continents have registered as users. The median year of birth of cases entered is 1997 (range 19272013). Over 50% of cases are now over 16 years old and registered clinicians can contact other clinicians to discuss expert management of similar cases. The commonest disorder type is disorders of androgen action (377) followed by disorders of gonadal development (295). The Registry has been developed into an optional modular structure for adding clinical data. The Registry supports the development of new primary research through generation of new modules (such as the newly launched CAH module) and also supports secondary research on the existing dataset. Two such projects were recently completed: a review of associated congenital anomalies and a study of trends in sex assignment. There are currently seven active studies based in five countries, with a further six in development.
Conclusions: The I-DSD and I-CAH Registries are open to new researchers and clinical contributors who can register at www.i-dsd.org (I-DSD) or www.i-cah.org (I-CAH). In addition to acting as a resource for performing studies, the I-DSD Registry is facilitating the development of a network of DSD centres and specialists and can form the backbone of initiatives such as DSDnet.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology