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Systematic review of quality of life in Turner syndrome

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Abstract

Purpose

This study aimed to systematically review the available literature on “quality of life” (QoL) or “health-related quality of life” (HRQoL) in Turner syndrome (TS) patients and to analyze the relations among height, puberty, and the use of growth hormone (GH) and the QoL of TS patients.

Methods

An electronic bibliographic search was conducted through the PubMed, Embase, Bireme, Scopus, and Web of Science databases. The main terms were “Quality of Life” and “Turner syndrome.”

Results

Among the databases, 559 articles were found; after the selection process, 13 studies were selected. A quality assessment was conducted, and all the studies were of high quality. Eight well-known QoL questionnaires were used, and the selected studies presented factors that may be related to the QoL of TS patients, such as height, puberty, and GH use. However, a more detailed understanding of which factors are associated with the QoL of TS patients is still needed, which may be due to the lack of specific QoL instruments involving important aspects related to TS.

Conclusion

The QoL of TS patients appears to be compromised, but existing data regarding the relations among height, puberty, and GH and QoL are still controversial. Although these factors should be carefully considered in TS patients, it was not possible to determine whether they have a significant relation with the QoL of TS patients.

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References

  1. Baena, N., Vigan, C., Cariati, E., Clementi, M., Stoll, C., Caballín, M., et al. (2004). Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries. American Journal of Medical Genetics, 129(A), 16–20. https://doi.org/10.1002/ajmg.a.30092.

    Article  Google Scholar 

  2. Jacobs, P., Dalton, P., James, R., Mosse, K., Power, M., & Robinson, D. (1997). Turner syndrome: A cytogenetic and molecular study. Annals of Human Genetics, 61, 471–483.

    Article  PubMed  CAS  Google Scholar 

  3. Nielsen, J., & Wohlert, M. (1990). Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Original Article Series, 26(4), 209–223.

    PubMed  CAS  Google Scholar 

  4. Sybert, V. P., & McCauley, E. (2004). Turner’s syndrome. New England Journal of Medicine, 351, 1227–1238.

    Article  PubMed  CAS  Google Scholar 

  5. Bondy, C. A. (2006). Turner’s syndrome and X chromosome - based differences in disease susceptibility. Gender Medicine, 3(1), 18–30.

    Article  PubMed  Google Scholar 

  6. Donaldson, M. D. C., Gault, E. J., Tan, K. W., & Dunger, D. B. (2006). Optimising management in Turner syndrome: from infancy to adult transfer. Archives of Disease in Childhood, 91, 513–520.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  7. Power, T., Langlois, N. E. I., & Byard, R. W. (2014). The forensic implications of Turner’s syndrome. Journal of Forensic Sciences, 59(3), 671–675.

    Article  PubMed  Google Scholar 

  8. Wang, S., Yang, L., Li, J., & Mu, Y. (2015). Concurrent insulinoma with mosaic Turner syndrome: A case report. Experimental and Therapeutic Medicine, 9, 801–804.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Gawlik, A., & Malecka-Tendera, E. (2014). Treatment of Turner’s syndrome during transition. European Journal of Endocrinology, 170, R57-R74.

    Article  CAS  Google Scholar 

  10. Giordano, R., Forno, D., Lanfranco, F., Manieri, C., Ghizzoni, L., & Ghigo, E. (2011). Metabolic and cardiovascular outcomes in a group of adult patients with Turner’s syndrome under hormonal replacement therapy. European Journal of Endocrinology, 164, 819–826.

    Article  PubMed  CAS  Google Scholar 

  11. Levitsky, L. L., Luria, A. H. O., Hayes, F. J., & Lin, A. E. (2015). Turner syndrome: Update on biology and management across the life span. Current Opinion in Endocrinology, Diabetes and Obesity, 22(1):65–72.

    Article  CAS  Google Scholar 

  12. Lucaccioni, L., Wong, S. C., Smyth, A., Lyall, H., Dominiczak, A., Ahmed, S. F., et al. (2015). Turner syndrome—issues to consider for transition to adulthood. British Medical Bulletin, 113, 45–58.

    Article  PubMed  CAS  Google Scholar 

  13. Hong, D., Kent, J. S., & Kesler, S. (2009). Cognitive profile of Turner syndrome. Developmental Disabilities Research Reviews, 15(4), 270–278.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Mccauley, E., Feuillan, P., Kushner, H., & Ross, J. L. (2001). Psychosocial development in adolescents with Turner syndrome. Journal of Developmental and Behavioral Pediatrics, 22(6), 360–365.

    Article  PubMed  CAS  Google Scholar 

  15. Marzelli, M. J., Hoeft, F., Hong, D. S., & Reiss, A. L. (2011). Neuroanatomical spatial patterns in Turner syndrome. NeuroImage, 55, 439–447.

    Article  PubMed  Google Scholar 

  16. Cohen, J. S., & Biesecker, B. B. (2010). Quality of life in rare genetic conditions: A systematic review of the literature. American Journal of Medical Genetics, 152A(5), 1136–1156. https://doi.org/10.1002/ajmg.a.33380.

    Article  PubMed  Google Scholar 

  17. The WHOQOL Group. (1995). The World Health Organization Quality of Life assessment (WHOQOL): Position paper from the World Health Organization. Social Science and Medicine, 41, 1403–1409.

    Article  Google Scholar 

  18. Hoxha, P., Babameto-Laku, A., Vyshka, G., Gjoka, K., Minxuri, D., Myrtaj, E., et al. (2015). Turner syndrome in Albania and the efficacy of its treatment with growth hormone. Journal of Pediatric Endocrinology and Metabolism, 28(11–12), 1227–1234.

    PubMed  CAS  Google Scholar 

  19. Fekkes, M., Kamphuis, R. P., Ottenkamp, J., Verrips, E., Vogels, T., & Kamphuis, M. (2001). Health-related quality of life in young adults with minor congenital heart disease. Psychology and Health, 16, 239–251.

    Article  Google Scholar 

  20. Dołega, Z., Jeż, W., & Irzyniec, T. (2014). The cohort effect in studies related to differences in psychosocial functioning of women with Turner syndrome. Endokrynologia Polska, 65(4), 287–294.

    Article  PubMed  Google Scholar 

  21. Ros, C., Alobid, I., Balasch, J., Mullol, J., & Castelo-Branco, C. (2013). Turner’s syndrome and other forms of congenital hypogonadism impair quality of life and sexual function. American Journal of Obstetrics and Gynecology, 208(6), 484.e1–484.e6.

    Article  Google Scholar 

  22. Cardoso, G., Daly, R., Haq, N. A., Hanton, L., Rubinow, D. R., Bondy, C. A., et al. (2004). Current and lifetime psychiatric illness in women with Turner syndrome. Gynecological Endocrinology, 19(6), 313–319.

    Article  PubMed  Google Scholar 

  23. Moher, D., Liberati, A., Tetzlaff, J., & Altman, D. G. (2009). Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement. BMJ, 339, b2535.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Fowkes, F. G. R., & Fulton, P. M. (1991). Critical appraisal of published research: introductory guidelines. BMJ, 302, 1136–1140.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  25. Fjermestad, K. W., Naess, E. E., Bahr, D., & Gravholt, C. H. (2016). A 6-year follow-up survey of health status in middle-aged women with Turner syndrome. Clinical Endocrinology, 85, 423–429. https://doi.org/10.1111/cen.13068.

    Article  PubMed  Google Scholar 

  26. Freriks, K., Verhaak, C. M., Sas, T. C. J., Menke, L. A., Wit, J. M., Otten, B. J., et al. (2015). Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social - emotional functioning in young adults with Turner syndrome. Hormones and Behavior, 69, 59–67.

    Article  PubMed  CAS  Google Scholar 

  27. Nadeem, M., & Roche, E. F. (2014). Health-related quality of life in Turner syndrome and the influence of key features. Journal of Pediatric Endocrinology and Metabolism, 27(3–4), 283–289.

    PubMed  CAS  Google Scholar 

  28. Taback, S. P., & Van Vliet, G. (2011). Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone. BMC Pediatrics, 11, 49.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  29. Lasaite, L., Lašiene, D., & Lašas, L. (2010). Cognition, emotions and quality of life in Lithuanian girls with Turner syndrome after growth hormone therapy discontinuation. Journal of Pediatric Endocrinology and Metabolism, 23(5), 443–450.

    Article  PubMed  Google Scholar 

  30. Amundson, E., Boman, U. W., Barrenas, M. L., Bryman, I., & Landin-Wilhelmsen, K. (2010). Impact of growth hormone therapy on quality of life in adults with Turner syndrome. Journal of Clinical Endocrinology and Metabolism, 95, 1355–1359.

    Article  PubMed  CAS  Google Scholar 

  31. Naess, E. E., Bahr, D., & Gravholt, C. H. (2010). Health status in women with Turner syndrome—a questionnaire study on health status, education, work participation and aspects of sexual functioning. Clinical Endocrinology, 72, 678–684. https://doi.org/10.1111/j.1365-2265.2009.03715.x.

    Article  PubMed  Google Scholar 

  32. Zuckerman-Levin, N., Frolova-Bishara, T., Militianu, D., Levin, M., Aharon-Peretz, J., & Hochberg, Z. (2009). Androgen replacement therapy in turner syndrome: A pilot study. Journal of Clinical Endocrinology and Metabolism, 94(12), 4820–4827.

    Article  PubMed  CAS  Google Scholar 

  33. Bannink, E. M., Raat, H., Mulder, P. G. H., & Keizer-schrama, S. M. P. F. M. (2006). Quality of life after growth hormone therapy and induced puberty in women with Turner syndrome. The Journal of Pediatrics, 148, 678–684.

    Article  CAS  Google Scholar 

  34. Carel, J. C., Elie, C., Ecosse, E., Tauber, M., Léger, J., Sylvie, & Cabrol (2006). Self-esteem and social adjustment in young women with Turner syndrome- influence of pubertal management and sexuality: Population- based cohort study. Journal of Clinical Endocrinology and Metabolism, 91(80), 2972–2979.

    Article  PubMed  CAS  Google Scholar 

  35. Carel, J. C., Ecosse, E., Bastie-Sigeac, I., Cabrol, S., Tauber, M., Leger, J., et al. (2005). Quality of life determinants in young women with Turner’s syndrome after growth hormone treatment: Results of the StaTur population-based cohort study. Journal of Clinical Endocrinology and Metabolism, 90, 1992–1997.

    Article  PubMed  CAS  Google Scholar 

  36. Boman, U. W., Bryman, I., & Moller, A. (2004). Psychological well-being in women with Turner syndrome: Somatic and social correlates. Journal of Psychosomatic Obstetrics and Gynecology, 25, 211–219.

    Article  PubMed  Google Scholar 

  37. Boman, U. W., Bryman, I., Halling, K., & Moller, A. (2001). Women with Turner syndrome: Psychological well-being, self-rated health and social life. Journal of Psychosomatic Obstetrics Gynecology, 22(2), 113–122.

    Article  PubMed  CAS  Google Scholar 

  38. Borenstein, M., Hedges, L. V., Higgins, J. P. T., & Rothstein, H. R. (2009). When does it make sense to perform a meta-analysis?, in introduction to meta-analysis. Chichester: Wiley.

    Google Scholar 

  39. Higgins, J.P.T, & Green, S. (Eds.)., Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from http://handbook.cochrane.org.

  40. Okada, Y. (1994). The quality of life of Turner women in comparison with grown-up GH-deficient women. Endocrine Journal, 41(4), 345–354.

    Article  PubMed  CAS  Google Scholar 

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Funding

This study was funded by Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). Doctoral Fellowship Number 140965/2015-7.

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Authors and Affiliations

  1. School of Medicine, State University of Campinas (Unicamp), Rua Tessália Vieira de Camargo,126, Cidade Universitaria, Campinas, SP, 13083-887, Brazil

    Carolina Trombeta Reis & Maíra Seabra de Assumpção

  2. Department of Pediatrics, School of Medicine, State University of Campinas (Unicamp), Rua Tessália Vieira de Camargo,126, Cidade Universitária, Campinas, SP, 13083-887, Brazil

    Gil Guerra-Junior & Sofia Helena Valente de Lemos-Marini

Authors
  1. Carolina Trombeta Reis
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  2. Maíra Seabra de Assumpção
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  3. Gil Guerra-Junior
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  4. Sofia Helena Valente de Lemos-Marini
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Correspondence to Carolina Trombeta Reis.

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All authors declare that they have no conflict of interest.

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This article does not contain any studies with human participants or animals performed by any of the authors.

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Reis, C.T., de Assumpção, M.S., Guerra-Junior, G. et al. Systematic review of quality of life in Turner syndrome. Qual Life Res 27, 1985–2006 (2018). https://doi.org/10.1007/s11136-018-1810-y

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