The typical prenatal male or female development of the somatic sex is a complex differentiation process affected by multiple genes, enzymes and hormones. Conditions in which the development of the somatic sex is atypical are medically summarised under the umbrella term “Disorders of Sex Development“ (DSD). Although new clinical guidelines emphasize the importance of psychosocial care, there is a research gap, since most research studies focus on medical aspects rather than on psychological or social aspects. The aim of the present cumulative thesis is to close this research gap with a quantitative study design based on patient reported outcomes.
The three studies in this thesis were part of two large quantitative cross-sectional outcome studies, network DSD and dsd-LIFE. So far, these two studies have the largest cohorts in DSD research. Furthermore, network DSD and dsd-LIFE included a diversity of psycho-social outcomes, which was rare in DSD research when the studies were designed. It was therefore possible to evaluate the views of individuals by diagnostic group and add more detailed empirical data to the current scientific knowledge.
The first evaluation focused on the term Disorders of Sex Development (DSD) invented in 2005 by the „Chicago Consensus Group on management of intersex conditions“ - an international congress of experts. The DSD terminology is controversial, as dissatisfaction about it was expressed by researchers, clinicians and support groups. It is stated that it should therefore be avoided. The European research group dsd-LIFE evaluated opinions on the terminology from 1040 individuals with conditions labelled as Disorders of Sex Development. Overall, a large majority of participants (69%) reported that the term Disorders of Sex Development applies to their condition or that they feel neutral about it. Overall, the data does not support the view that, in general, the term Disorders of Sex Development is insensitive to concerns of affected persons and that it should therefore be abandoned.
In the second study, health related Quality of life (HRQoL) and psychological wellbeing of individuals with DSD were evaluated as indicators of successful psychosocial adaptation to the conditions. 110 adults with DSD from the multicentre clinical evaluation study of the German network DSD were included. A trend towards a lower mental HRQoL and a significantly higher physical HRQoL of the participants compared to a norm was found. Participants reported significant higher psychological distress compared to the norm. Forty- seven participants (43%) reported distress in a clinically relevant range. This outcome supports the demand for psychological support in DSD care.
In the third study the subjective need for psychological support in parents of children and adolescents with DSD was analysed. 329 parents of children with DSD who took part in the multicentre clinical evaluation study of the German network DSD were included. 40% of the parents indicated to have a need for psychological support, only 50% of this group received it adequately. In particular, parents of children with XY-DSD with androgen effects other than hypospadias expressed a high need for psychological support. Psychological support therefore should be improved and should be an integral part of DSD care with families with children and adolescents with DSD.
Although network DSD and dsd-LIFE helped to objectify the discourse about the DSD terminology and support the demand of psychosocial support in DSD care there were significant methodical problems. In summary, the results of the studies presented can only be generalised to a limited extent. Together with DSD research in all psychosocial areas, the three studies of this thesis showed, that there is a great diversity in the needs of individuals with DSD. Empirical research alone cannot establish an evidence-based gold standard for DSD care, therefore guidelines depend on clinical expertise and current ethical considerations. In summary, training of mental health professionals is needed and training should cover clinically relevant topics such as traumatisation, infertility, gender, partnership, sexuality and education on DSD.