TY - JOUR
T1 - Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE
T2 - Design, methodology, recruitment, data quality and study population
AU - Röhle, Robert
AU - Gehrmann, Katharina
AU - Szarras-Czapnik, Maria
AU - Claahsen-van der Grinten, Hedi
AU - Pienkowski, Catherine
AU - Bouvattier, Claire
AU - Cohen-Kettenis, Peggy
AU - Nordenström, Anna
AU - Thyen, Ute
AU - Köhler, Birgit
AU - Bennecke, Elena
AU - Braicu, Elena Ioana
AU - Gehrmann, Nicole
AU - Do, The Hoang
AU - Frömel, Felix
AU - Wiese, Maria
AU - Gehrmann, Katharina
AU - Krannich, Alexander
AU - Röhle, Robert
AU - Splettstößer, Gerald
AU - Lingnau, Anja
AU - Niyet, Katja
AU - Plöckinger, Ursula
AU - Schmid, Gertraud
AU - Quinkler, Marcus
AU - Rothe, Karin
AU - Sehouli, Jalid
AU - Werner-Rosen, Knut
AU - Lankes, Erwin
AU - Neumann, Uta
AU - Birnbaum, Wiebke
AU - Dmoch, Frau
AU - Marshall, Lou
AU - Marxsen, Axa
AU - Müller-Godeffroy, Esther
AU - Rapp, Marion
AU - Tafazzoli, Kianush
AU - Wünsch, Lutz
AU - Wimmer, Karen
AU - Grossmüller-Sielenkemper, Nadine
AU - Krege, Susanne
AU - van der Grift, Tim
AU - den Heijer, Martin
AU - Kreukels, Baudewijntje
AU - van Alfen, Janielle
AU - Kortmann, Barbara
AU - Stikkelbroeck, Nike
AU - vd Crommert, Viviane
AU - Kwak, Karen
AU - Feitz, Wout
AU - dsd-LIFE study group
PY - 2017/8/18
Y1 - 2017/8/18
N2 - 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 (+/-13.6years). 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.
AB - 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 (+/-13.6years). 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.
KW - Differences of sex development
KW - Disorders of sex development
KW - DSD
KW - European network
KW - Interdisciplinary care
KW - Sexual differentiation
UR - http://www.scopus.com/inward/record.url?scp=85027687638&partnerID=8YFLogxK
U2 - 10.1186/s12902-017-0198-y
DO - 10.1186/s12902-017-0198-y
M3 - Article
C2 - 28821302
AN - SCOPUS:85027687638
VL - 17
JO - BMC Endocrine Disorders
JF - BMC Endocrine Disorders
SN - 1472-6823
IS - 1
M1 - 52
ER -