Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: Design, methodology, recruitment, data quality and study population

dsd-LIFE Group

doi:10.1186/s12902-017-0198-y

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: Design, methodology, recruitment, data quality and study population

dsd-LIFE Group

Klinik für Kinder- und Jugendmedizin

62 Zitate (Scopus)

Abstract

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.

Originalsprache	Englisch
Aufsatznummer	52
Zeitschrift	BMC Endocrine Disorders
Jahrgang	17
Ausgabenummer	1
DOIs	https://doi.org/10.1186/s12902-017-0198-y
Publikationsstatus	Veröffentlicht - 18.08.2017

Fördermittel

and Ad Hermus (recruitment), Chris Verhaak (analysis, interpretation), Jos Gilissen (coordinator research centre in Nijmegen, conception of work, design of the Teun van Herwaarden (laboratory medicine, storage of samples) Kathleen d Houwers and Henri Timmers (recruitment, analysis, interpretation), Regine Keting (project management support), Loes Kooijman (data collection, project management support). Birmingham: Elizabeth S. Baranowski, Christopher M. Jones and Emma A. Webb (recruitment, data collection and medical examination), Miriam Asia and Chona Feliciano (study nurse). Toulouse: Françoise Lorenzini, Sophie Bezio and Solange Grunenwald and Audrey Cartault–Grandmottet (data collection, recruitment, medical examination, gynaecological examination and publication participation), Béatrice Jouret, Philippe Galinier, Sofia Mouttalib (medical examination and publication participation), Adams Hillard, Thomas Edouard (data analysis and publication participation), Catherine Arnaud (epidemiologist, data analysis and publication participation), Francoise Auriol (coordinator of paediatric research centre, data collection), Isabelle Kieffer (clinical researcher in paediatric research centre, data collection),Sophie Mourgues (clinical researcher in the Clinical Research Department of CHU), Jean Pierre Salles and Maithé Tauber (publication participation), Florence Tremollières (bone densitometry, data collection). Montpellier: Sylvie Broussous (data management, recruitment), Isabelle Raingeard (medical examination). Lyon: Caroline Demilly (psychological support), Daniela Gorduzza (data collection and urological examination), Laurence Heitz (study nurse), Sandrine Masson (design and methodology of the study), Delphine Maucort-Boulch (design and methodology of the study and biostatistical support), André Serusclat (radiology), Yvonne Varillon (data collection). München: Heike Kuenzel (psychological support), Christian Lottspeich (data collection and examination), Kerstin Schaefer (data collection and examination). Stockholm: Stefan Arver and Mats Holmberg (recruitment, data collection, medical and urological examination), Liselott Blomberg, Susanne Jarlvik Alm and Carina Levelind (study nurse), Birgit Borgstroem (recruitment, data management), Urban Ekström (data collection, medical and urological examination), Hedvig Engberg (recruitment, data collection and management, medical and gynaecological examination), Henrik Falhammar (recruitment), Louise Frisén and Agneta Nordenskjöld (study design, recruitment), Svetlana Lajic (recruitment, data collection), Angelica Lindén Hirschberg (recruitment, gynaecological examination), Carl Lundeberg (data collection and management), Anna Strandqvist (data collection and management, psychological support). Lodz: Katarzyna Bajszczak (psychological support), Katarzyna Marchlewska (statistician), Elzbieta Oszukowska (urological examination and counselling), Renata Walczak-Jedrzejowska (preparation of clinical material). Göttingen: Stephanie Bernstein (design of study and instruments), Friederike Maaßen (data evaluation and interpretation). Warszawa: Katarzyna Bajszczak (psychological support), Agnieszka Lecka-Ambroziam and Agnieszka Rudzka-Kocjan (data collection), Mieczysław Szalecki (Head of Endocrinology Department). Paris: Anne Laure Castell (medical examination, recruitment), Lise Duranteau (concept of the study, data collection, data evaluation), Jennifer Flandrin (gynaecological examination, data collection), Anne Sophie Lambert (recruitment), Luigi Maione (Department of Endocrinology and Reproductive Diseases, biological data). We especially thank the support groups in the different countries that have supported the study: Intersexuelle Menschen e.V., Turner-Syndrom-Vereinigung Deutschland e.V., 47xxy klinefelter syndrome e.v., AGS-Eltern-und Patienteninitiative e.V. (Germany); Nederlandse Klinefelter Vereniging, Dutch Adrenal Society, DSDNederland and Turner Contact Nederland (the Netherlands); and Association surrenales (France). Holger Muehlan from the Department of Health & Prevention at the Institute of Psychology of the University of Greifswald conducted the psychometric evaluation of the instrument for satisfaction with care (CHC-SUN) for the purposes of this study. The study was supervised by the following Scientific Advisory Board: Prof. Peter Lee, Prof. Heino Meyer-Bahlburg, Prof. Inas Mazen, Prof. Justine Schober, Dr. Margaret Simmonds, and Dr. Jürg Streuli. European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement n°305373. http://www.dsd-life.eu/.

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

Dokumente

10.1186/s12902-017-0198-y

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title = "Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: Design, methodology, recruitment, data quality and study population",

abstract = "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.",

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AU - dsd-LIFE Group

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

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.

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DO - 10.1186/s12902-017-0198-y

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Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: Design, methodology, recruitment, data quality and study population

Abstract

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UN SDGs

Strategische Forschungsbereiche und Zentren

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