Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia

Abstract

Little is known about the long-term health-related quality of life (HRQL) and mental health outcomes for women diagnosed with congenital adrenal hyperplasia (CAH), a disorder of sex development. Though recommendations for therapists exist, no research has empirically investigated women's experiences in therapy or their recommendations for therapy. Thus the purpose of the study was to investigate HRQL, mental health concerns of women with CAH, and patients' recommendations for therapists. A qualitative methodology, consensual qualitative research, was used to answer these questions. Eight women with CAH participated in the study. Results from their interviews revealed six domains: physical functioning, psychological functioning, interpersonal processes and relationships, healthcare experiences of women with CAH, recommendations for health care professionals, and systemic considerations. Domains were further broken down into categories with results yielding implications for both medical and mental health professionals and shedding light on issues related to normalcy, concerns both related and unrelated to CAH, sex, and gender, and highlighting effective supports and therapeutic interventions.

Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia

“…Previous research on HRQOL in CAH patients has primarily focused on adults [2,3,4,5,6,7,14], whereas pediatric data have been limited. A recent study from the Netherlands documented few negative effects of the disease on physical, social, and societal functioning [8].…”

“…Among women with CAH, concerns regarding fertility, increased anxiety about disclosing the diagnosis to others, and decreased satisfaction with sexual functioning have been reported [3,4]. However, other data also suggest that patients function normally and have a good overall psychological adjustment [5]. Most recently, a study of 588 CAH adults in Sweden showed that the total cohort of CAH patients did not differ greatly from the general population in terms of education, employment, income, sick leave, disability pension, social welfare, marriage, or children [6].…”

Experiences of people living with disorders of sex development and sex reassignment: Meta‐ethnography of qualitative studies

“…Female participants view looking feminine in a positive sense, whereas masculine appearance is a negative concern and a source of lower self-esteem (Alderson et al, 2004;MacKenzie et al, 2009;Malouf et al, 2010):…”

“…Other coping strategies employed by participants include positives thinking, searching for family history, sense of difference, openness, willingness to share personal information, and acceptance (Alderson et al, 2004;Guth et al, 2006;Malouf et al, 2010). .…”

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

“…Varying degrees of impaired QoL have been described [59,60,74,79,[93][94][95][96]. In a few publications, no difference from controls was found [97][98][99] and, in one study, even a better QoL compared to controls was reported [100]. Moreover, CAH patients were reported to have a better QoL compared to patients with primary adrenal insufficiency [94].…”