ESPE Abstracts (2015) 84 WG3.5

EU-Study: DSD-LIFE

Birgit Köhlera, Wiebke Arltb, Claire Bouvattierc, Aude Brac de la Perriered, Claire-Lise Gayed, Hedi Claahsen-van der Grintene, Peggy Cohen-Kettenisf, Anna Nordenstromg, Catherine Pienkowskih, Annette Richter-Unruhi, Jolanta Slowikowska-Hilczerj, Francoise Parisk, Maria Szarras-Capnikl, Nicole Reischm, Ute Thyenn & Claudia Wiesemanno


aCharite, Paediatric Endocrinology, Berlin, Germany; bCentre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Birmingham, UK; cHôpital Bicêtre, Université Paris-Sud, Paris, France; dHôpital Mère-Enfant de Lyon, Université Claude Bernard Lyon 1, Lyon, France; eNijmegen Medical Center, Radboud University, Nijmegen, The Netherlands; fVU Medical Center, Neuroscience Campus, Amsterdam, The Netherlands; gKarolinska Institutet, Stockholm, Sweden; hLe Centre Hospitalier, Universitaire de Toulouse, Toulouse, France; iPaediatric Endocrinology, Westfälische Wilhelms-Universität, Münster, Germany; jAndrology, Medical University of Lodz, Lodz, Poland; kLe Centre Hospitalier, Universitaire, Montpellier, Germany; lPaediatric Endocrinology, Children’s Memorial Health Institute, Warsaw, Poland; mEndocrinology, Ludwig-Maximilians-Universität, München, Germany; nPaediatrics, Universität zu Lübeck, Lübeck, Germany; oInstitut für Ethik und Geschichte der Medizin, Universitätsmedizin Göttingen, Göttingen, Germany


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 2014–30th 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).