Psychological and psychiatric aspects in women with disorders of sex development

University dissertation from Stockholm : Karolinska Institutet, Dept of Clinical Neuroscience

Abstract: Disorders of sex development (DSD) are an umbrella term for conditions where biological development of sex is affected. Included in this thesis are women with different DSD; women with congenital adrenal hyperplasia (CAH), a disorder causing androgen excess, women with complete androgen insensitivity (CAIS), a disorder of androgen action, and women with complete gonadal dysgenesis (CGD), a complete absence of testicular or ovarian development. Although the etiologies are different, living with a chronic condition is interlaced with continuous learning and new challenges. During the last decades research has focused on elucidating the genetic background in DSD and, the effect of androgens on psychosexual development. Thus, mental health issues and psychological outcomes need to be explored. Therefore, the overall aim of this thesis was to investigate psychological and psychiatric aspects regarding women with DSD. The methods used to achieve this aim were interview studies analyzed by qualitative content analysis (Studies I and II), matched case cohort study using the Swedish nationwide registries and 1:100 age-matched male and female controls (Study III), and a cross-sectional study using structured clinical interviews (MINI+) with women with CAIS and GD compared to women with premature ovarian insufficiency (POI) and age-matched controls (1:1). The findings from 13 interviews with women with CAH (Studies I and II), revealed that knowledge about CAH facilitates disclosure of information. Similarly, knowledge about one’s body facilitates the initiation of sexual activities. On the other hand, repeated genital examinations can threaten autonomy and lead to traumatic experiences. Participation in research was considered to be important to improve future caretaking, however, much research was not considered important for the individual patient. Participants identified as women, however, some participants did not feel feminine enough. Subsequent, motherhood was described as a confirmation of being a woman. Participants had shifting opinions as to what role CAH has played in their lives, and how it affected their experiences and views. Moreover, shame was fueled by experiences of exposure in interaction with health professionals, as well as parental shame, and a recurrent focus on evaluation and normality. In conclusion, all participants described their struggle to be seen as individuals. The specific objective of Study III and Study IV was to increase knowledge of psychiatric disorders among women with DSD. Linkage of Swedish registries with the National CAH Registry (Study III) showed an increased risk of psychiatric disorders among girls and women with CAH, and in particular substance use disorders, compared to population controls. Lastly, in Study IV, screening for psychiatric disorders with MINI+ revealed significantly increased frequencies of psychiatric disorders in women with CAIS and CGD compared to women with POI and population-derived controls. Thus, the increased frequencies reported in both Study III and Study IV, call for clinical attention to psychiatric symptoms in women with DSD. In conclusion, women with DSD are a diverse group of individuals with different needs and experiences. They have a higher risk for psychiatric disorders. By acknowledging this fact, health professionals can aid with age-appropriate information, information disclosure strategies, attention to psychiatric symptoms, and support, to help women with DSD reach the fullest possible physical and mental health. Furthermore, involvement of persons with a DSD in care and research may help to understand the variability in outcome. Moreover, increased awareness of DSD among health professionals, and the general public could eventually make life easier for persons with a DSD.

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