Quality of life in men with Klinefelter syndrome: a multicentre study

Author:

Franik Sebastian1ORCID,Fleischer Kathrin1,Kortmann Barbara2,Stikkelbroeck Nike M3,D’Hauwers Kathleen4,Bouvattier Claire5,Slowikowska-Hilczer Jolanta6,Grunenwald Solange7,van de Grift Tim8,Cartault Audrey9,Richter-Unruh Annette10,Reisch Nicole11ORCID,Thyen Ute12,IntHout Joanna13ORCID,Claahsen-van der Grinten Hedi L14ORCID,_ _

Affiliation:

1. Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands

2. Department of Pediatric Urology, Radboudumc, Nijmegen, The Netherlands

3. Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands

4. Department of Urology, Radboudumc, Nijmegen, The Netherlands

5. Department of Pediatric Endocrinology, Bicêtre Hospital, Paris Sud University, France

6. Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Poland

7. Department of Endocrinology and Metabolic Disease, Centre Hospitalier Universitaire de Toulouse, France

8. Departments of Plastic Surgery and Medical Psychology, Amsterdam UMC location VUmc, Amsterdam, The Netherlands

9. Department of Pediatrics, Hospital Des Enfants, Toulouse, France

10. Kinderendokrinologie und Diabetologie, Universitätsklinikum Ruhr-Universität Bochum, Kinderklinik, Bochum, Germany

11. Department of Endocrinology, Medizinische Klinik and Poliklinik IV, University Hospital Munich, Munich, Germany

12. Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Ratzeburger Allee, Lubeck, Germany

13. Department for Health Evidence, Radboudumc, Nijmegen, The Netherlands

14. Department of Pediatric Endocrinology, Amalia Childrens Hospital, Radboudumc, Nijmegen, The Netherlands

Abstract

Background Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS. Design Cross-sectional multicentre study. Methods Two-hundred-eighteen men with KS were recruited from 14 clinical study centres in 6 European countries which participated in the European dsd-LIFE study. Male normative data from a healthy and a psychiatric reference population were used for comparison. The validated World Health Organization (WHO) QOL (WHOQOL)-BREF questionnaire was used to investigate five main domains of quality of life (WHOQOL): global, physical, psychological, environment, and social. Results The QOL physical domain score was lower for men with KS compared to the healthy reference population (KS: 66.9; s.d. 19.4, n = 193; healthy reference population: 76.5; s.d. 16.2, n = 1324, P < 0.001) but higher compared to the psychiatric reference population (54.6; s.d. 20.6; n = 77, P < 0.001). The WHOQOL-psychological domain score was lower for men with KS compared to the healthy reference population (KS: 63.6; s.d. 17.8, n = 193; healthy reference population: 67.8; s.d. 15.6, n = 1324, P < 0.05) but higher compared to the psychiatric reference population (45.9; s.d. 26.0), n = 77, P < 0.001). The social domain score on the WHOQOL questionnaire was found to be lower in men with Klinefelter syndrome (KS) compared to the healthy reference population (KS: 60.0; s.d. 21.6, n = 193; healthy reference population: 68.2; s.d. 13.8, n = 1324, P < 0.001). However, this score was similar to that of the psychiatric reference population (61.0; s.d. 17.0, n = 77, P = 0.5). The WHO environment domain score of men with KS (70.0; s.d. 15.0, n = 193) was similar to the healthy reference population (70.5; s.d. 20.7, n = 1324) but higher compared to the psychiatric reference population (61.9; s.d. 20.8, n = 77, P = 0.002). Experienced discrimination, less social activities, and the presence of chronic health problems were associated with significantly decreased QOL in men with KS. Conclusion Overall QOL in European men with KS is significantly worse compared to a healthy European reference population. Especially, the presence of discrimination, less social activities, and chronic health problems is associated with lower physical, psychological, and social QOL. Further studies are necessary to investigate if a multidisciplinary approach may help to provide adequate counselling and psychosocial support to improve QOL.

Publisher

Bioscientifica

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference22 articles.

1. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study;Bojesen,2003

2. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses;Bojesen,2006

3. Mortality in patients with Klinefelter syndrome in Britain: a cohort study;Swerdlow,2005

4. Morbidity and mortality in Klinefelter syndrome (47,XXY);Bojesen,2011

5. The impact of Klinefelter syndrome on socioeconomic status – a multicentre study;Franik,2022

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