dsd-LIFE: sustainable improvement of clinical care for patients with disorders of sex development in the EU

dsd-LIFE is a comprehensive European clinical outcome study investigating health, hormonal, 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 endocrinology, psychology, surgery, gynaecology, urology, quality of life and ethics.

In 2013 the study protocol including health, hormonal, surgical, psychosocial and ethical issues and the online database were developed in six languages. In addition to physicians and psychologists, patient support groups have contributed to the study protocol. The study is conducted in France, Germany, the Netherlands, Sweden, Poland and the United Kingdom.

The recruitment phase of participants has started in February 2014 (February 1, 2014-September 30, 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. 5-alpha-reductase-2 deficiency, 17-beta-HSD-3 deficiency, LH-receptor defects), impaired androgen action (complete androgen insensitivity, CAIS; partial androgen insensitivity, PAIS), dysgenesis of the testes or ovaries, mixed gonadal dysgenesis, karyotype 46,XY/46,XX, 46,XX males, ovotestes, hypospadias.

Until July 2015, more than 1100 persons with the different diagnoses participated in the study. A information website for parents was developed. Data analysis, publication and development of clinical recommendations will start in 2016.

DSD-Life is funded by the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement n° 305373.

More information.

PD Dr. Birgit Köhler
Charité, Berlin, Germany
email: birgit.koehler@charite.de
phone: + 49 (0)30 450 566292