Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study
of individuals with disorders/differences of sex development (DSD). This study
focuses on various rare genetic conditions characterized by impaired gonadal
or adrenal functionality. Methods/Design The study aims to assess quality of
life (QoL) as a measure of psychosocial adaptation, psychosexual and mental
health aspects as major outcomes. Health status and functioning, medical and
surgical therapies, participants’ views on health care, psychological and
social support, sociodemographic factors and their interrelations will be
investigated as factors associated with the outcomes. In addition, ethical
considerations in the field of DSD are addressed and previous experiences with
health care were gathered. One thousand and forty participants with different
DSD conditions were recruited by 14 study centres in 6 European countries
(France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from
February 2014 until September 2015. The conditions included were: Turner
syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n =
218); 47,XYY (n = 1); 46,XY gonadal dysgenesis/ovotestes (n = 63); complete
androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS)
(n = 35) and androgen synthesis disorders (n = 20); severe hypospadias (n =
25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal
hyperplasia (CAH) (n = 226); 46,XX gonadal dysgenesis/ovotestis (n = 21); and
46,XX in males (n = 6). For an add-on study, 121 46,XY male-assigned
individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age
of participants’ was 32.4 (+/− 13.6 years). Discussion Participation was high
in conditions not commonly described as DSD, such as Turner and Klinefelter
syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to
be more difficult. The data collection of PROs resulted in high data quality.
Within medical and physical examination data, more missings and/or inaccurate
data were found than expected. The European dsd-LIFE study recruited and
evaluated the largest cross-sectional sample of individuals with different
conditions classified under the term DSD. The data from this large sample will
provide a sufficient basis for evidence-based recommendations for improvement
of clinical care of individuals affected by a DSD condition. Trial
registration German Clinical Trials Register DRKS00006072
