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Health-related quality of life in children with disorders of sex development (DSD)

Abstract

Disorders of sex development (DSD) are rare genetic conditions resulting in atypical development of the sex organs. While some evidence is available on psychosexual outcomes, much less is known about the quality of life in this population, especially in children. Health-related quality of life (HRQOL) is a widely accepted endpoint for assessment and evaluation of interventions and medical care. Within the German DSD Network study, 86 children aged 8–12 years with several subtypes of DSD were recruited from Germany, Austria and Switzerland. Demographic, medical and psychosocial variables were collected through interviews of the attending physicians, the children and the parents. HRQOL was the primary outcome. It was assessed by the KINDL-R Questionnaire [2001]. Psychosexual determinants included gender identity/gender dysphoria, gender role behaviour, the child’s knowledge about the condition and number/timing of genital surgery. A significant reduction of HRQOL was reported in children’s self-report (p < 0.001), in particular in the area of self-esteem (p < 0.001), physical well-being (p < 0.01) and school functioning (p < 0.05). Girls with congenital adrenal hyperplasia who experienced gender dysphoria reported lower HRQOL scores compared to the study group at large. Atypical gender role behaviour was not associated with HRQOL. Conclusion: Psychosocial support of children with DSD and their families appears to be necessary in at least some cases and must be accessible for all patients.

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Notes

  1. 1.

    In one child with XY-DSD, there was no definite decision about the sex of rearing. We decided to integrate it into the DSD-XY-P-F group, because of its own declaration of being a girl.

Abbreviations

ANOVA:

Analysis of variance

CAH:

Congenital adrenal hyperplasia

CBAQ:

Child Behaviour and Attitudes Questionnaire

CGS:

Cross-Gender Scale

DSD:

Disorder of sex development

FS:

Femininity Scale

GII:

Gender Identity Interview

GRQ:

Gender Role Questionnaire

HRQOL:

Health-related quality of life

M:

Mean

SD:

Standard deviation

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Acknowledgments

We thank all study participants. The study would not have been possible without their openness and commitment to talk about very intimate aspects of their life. We thank Heino Meyer-Bahlburg, Hertha Richter-Appelt, Eva Hampel and Esther Müller-Godeffroy for methodological support and Sabine Lorenz for her organizational support during the whole study. Many thanks to the interviewers in Germany, Austria and Switzerland and to Wiebke Naujoks for collecting control data.

A special thank goes to all cooperating physicians of the DSD Network Working group for recruitment of participants and giving clinical data: I. Akkurt, N. Albers, O. Bartsch, D. Becker, M. W. Beckmann, R. H. Beetz, M. Bettendorf, P. Beyer, G. Binder, T. Boemers, C. Brack, A. Caliebe, H. G. Dietz, J. Dobberphul, H. Dörr, F. Eckholdt, R. Finke, M. Fisch, C. Flück, D. Frohneberg, I. Gätjen, H. Gitter, A. Grüters, R. Hampel, B. Hauffa, P. Heidemann, M. Heinz, M. Hemmighaus, J. Hensen, U. Hofmann, S. Höhne, P. M. Holterhus, S. Hosie, K. Kapelari, B. Karges, E Keller, W. Kiess, A. Körner, E. Korsch, S. Krege, U. Kuhnle-Krahl, D. l’Allemand-Jander, C. Leriche, B. Leube, E. Loeser, C. Lorenz, W. Marg, H. Mau, K. Mohnike, M. Morlot, P. Mullis, C.-J. Partsch, R. Pfäffle, M. Ranke, A. Rauch, M. Riccabona, A. Richter-Unruh, F. Riepe, T. Rohrer, M. Roll, W. Rösch, S. Roth, K. Salzgeber, D. Schmidt, G. E. Schott, P. Schrö ter, H. P. Schwarz, D. von Schweinitz, S. Siemer, G. Simic-Schleicher, G. Sinnecker, W. Sippell, M. Sohn, R. Stein, S. Tinschert, S. Uhlarik, K. L. Waag, M. Wabitsch, F. Waldhauser, D. Wallwiener, L. Wessel, M. Westenfelder, P. Wieacker, R. P. Willig, J. Wintgens, S. Wudy, L. Wünsch, A. Wüsthof, U. Zeeh and G. Zöller. The study was supported by the European Scientific Advisory Board: S. Bertelloni, P. T. Cohen-Kettenis, I. A. Hughes, C. Nihoul-Fékété, M. Ritzén and M. Schober.

The study was funded by the German Ministry of Education and Science (FKZ 01GM0311).

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Correspondence to Ute Thyen.

Additional information

Communicated by Prof. B. Steinmann

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Jürgensen, M., Lux, A., Wien, S.B. et al. Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr 173, 893–903 (2014). https://doi.org/10.1007/s00431-014-2264-z

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Keywords

  • Health-related quality of life (HRQOL)
  • Disorders of sex development (DSD)
  • Congenital adrenal hyperplasia (CAH)
  • Children