Factors affecting the quality of life of adults living with congenital adrenal hyperplasia: a qualitative study of lived experience

Objective

Congenital adrenal hyperplasia (CAH) is a genetic condition caused by enzymatic defects of adrenal steroidogenesis. The physical manifestations of CAH are well recognised, but the effects on health-related quality of life (HRQoL) are unclear. We sought to explore the factors impacting the HRQoL of individuals with CAH.

Design

Phenomenological qualitative study of lived experience.

Methods

In-depth, timeline-assisted, semi-structured interviews were undertaken virtually with participants recruited via the Living with CAH patient support group. Participants, purposively selected until data saturation, were adults (≥18 years) with CAH and parents or partners of adults with CAH. Interviews were audio-recorded, transcribed verbatim, and analysed using framework analysis.

Results

Twenty-three participants were interviewed (20 classic, 1 non-classic, and 2 mothers). Most participants (n = 19) were female. CAH has a profound physical, psychological, and psychosocial impact on individuals. The psychological well-being of women was compromised by trauma from childhood medical examinations and a lack of agency in treatment decisions. Poor self-esteem, shame, and negative body image impaired female social functioning. Female sexual dysfunction from genital malformation or surgery and psychosexual issues negatively impacted intimate relationships. Fertility and reproductive choices were a concern to both sexes. Complex family dynamics with dependent relationships were evident.

Conclusion

This study identified a breadth of factors impacting HRQoL in CAH – domains overlooked by an existing measure that predominantly focuses on physical symptoms. Further work is needed to develop a sensitive, comprehensive disease-specific HRQoL measure that reflects the lived experience of individuals with CAH to facilitate delivery of patient-centred care and improved patient outcomes.