Endocrine Abstracts

To improve the clinical management of children with disorders of sex development (DSD), there is a need for multi-centre collaborative research as well as clinical interaction. The European DSD Register that became operational in 2008 is a cornerstone of the EuroDSD programme and allows clinicians and researchers to interact in a secure, internet-based, virtual research environment (VRE).

Currently, 23 centres in 16 countries from four continents have expressed an interest in using the Register and 12 centres in nine countries from two continents are actively using the Register. Amongst the 702 cases in the Register, there are 429 cases that are female (61%) and 273 are male (39%). The median year of birth is 1993 (range 1927–2010) and the age of presentation ranges from <1 month to 53 years. There are 11 males who have 46XX karyotype and 292 females who have a 46XY karyotype and 200 out of these 292 cases are women over the age of 16 years. Disorders of androgen action are the commonest disorder type with 220 cases (31%). Of these cases 154 (70%) have complete androgen insensitivity syndrome and 63 (29%) have partial androgen insensitivity syndrome. Disorders of gonadal development are the next commonest disorder type with 153 cases (22%), and over half (52%) of these cases have partial gonadal dysgenesis. One hundred and eighty-seven (27%) of the total cases on the register have associated malformations present. Five hundred and fifty-four (79%) of cases on the register have a DNA sample available, and in 238 (43%) of these the genetic diagnosis remains uncertain.

There is a need to sustain this unique and successful resource for research and extend its use beyond the original partners of the EuroDSD programme. There is also a need to maintain and extend the clinical and research network and translate its efforts into improving standards of clinical care.