DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online database have been developed in six languages. Patient support groups have contributed to the study protocol, physicians, psychologists, and nurses have received training on standard operating procedures (SOP) to perform the study in a standardized manner in all study centres. The study is conducted in Germany, UK, France, Sweden, The Netherlands, and Poland. The recruitment phase of participants has started in February 2014 (duration February 201430th September 2015). Patients >16 years with the following diagnoses are invited to partipate in the study: Turner syndrome, Klinefelter syndrome, congenital adrenal hyperplasia (CAH), impaired testosterone synthesis (e.g. 5α-reductase-2 deficiency, 17β-HSD3 deficiency, and LH-receptor defects), impaired androgen action (complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS)), dysgenesis of the testes or ovaries, mixed gonadal dysgenesis, karyotype 46,XY/46,XX, 46,XX males, ovotestes, and hypospadias. Until June 2015 the consortium has recruited 1090 patients with the different diagnoses. A parents website was developed. Data analysis, publication and development of clinical recommendations will start in 2016 (http://www.dsd-life.eu).
01 - 03 Oct 2015
European Society for Paediatric Endocrinology