ABSTRACT
Background: The aim of the study was to present metal health, psychosocial functioning and quality of life (QoL) of children and adolescents with a difference in sex development (DSD) from their first visit in the newly established multidisciplinary team in 2002-2004 in Norway. A secondary aim was to explore mental health, psychosocial functioning and QoL in the same cohort patient's as for today and finally explore any childhood predictors for these outcomes in adulthood. Methods: The first part of the study took place in 2002-2004 in a mixed cohort of children and adolescents born with a DSD in 1982-2002, compared to a healthy comparison group. This part involved semi-structured interviews and self-reported and proxy-reported questionnaires. The second part of the study is a longitudinal study of the same participants 15-20 years later (2018-2020). Results: The participants at baseline of the study consisted of 33 patients; 24 assigned females (congenital adrenal hyperplasia, androgen insensitivity syndrome, gonadal dysgenesis and ovotesticular DSD) and nine assigned males; all with a hypospadias diagnosis. Significant differences were found for behavioral and emotional problems between groups, 46, XX females with significant higher total scores on YSR (49.43 + 24.17, p = .047); 46, XY females (21.00 + 12.04, p = .032); and higher internalizing problems scores (YSR) in 46, XX females (16.57 + 9.74), compared with the 46, XY females (5.60 + 5.32, p = .047). A positive association between QoL of the participants in adulthood and PedsQL' social function (r = .657, p = .020) and psychosocial function in childhood (r = .596, p = .041) was found. Conclusions: In summary, this study demonstrated that adolescents assigned females with DSD might have more psychiatric problems and a poorer degree of psychosocial functioning compared to a healthy comparison group. As we do find an association with these problems in adolescence and later adult QoL, it is of great importance to respond to these behaviors in early life.
ABSTRACT
Background: Differences of sex development (DSD) are a group of congenital conditions that involve variations in sex chromosomes, genes, external and/or internal genitalia, hormones, and secondary sex characteristics. The present study sought to highlight the everyday challenges faced by adults with DSD as well as to understand how issues such as disclosure, information sharing, and stigma affect their daily life. Method: We applied an interpretative phenomenological study design to explore the first-person perspectives. Semi-structured qualitative interviews of 15 adults aged 30-70 years living in Norway with five different DSD conditions (Turner syndrome, Klinefelter syndrome, congenital adrenal hyperplasia, Mayer-Rokitansky-Küster-Hauser syndrome and hypospadias) were analyzed using reflexive thematic analysis. Results: Living with DSD, indicated doing a balancing act between hiding and/or exposing what participants perceived differed from others bodies. Communication regarding sensitive topics proved to be important. The participants were doing invisible work to manage the balance between concealing and revealing their feeling of differentness, a work effort that was not necessarily perceivable to others but still affected everyday life of the participants. Furthermore, the participants' experiences of disclosure changed over time, as those who were diagnosed during childhood found that disclosure became easier with advancing age. However, being diagnosed as an adult seemed to increase the feeling of difference and complicate disclosure. Conclusion: Individuals with DSD should receive adequate information and have someone to practice disclosure towards, which could possibly strengthen the psychosocial aspects of living with their condition. The results emphasize the need to help individuals with DSD achieve a balance between disclosure and self-protection, overcome stigma, and determine when and how information about their DSD should be provided to others.
