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/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, 2 mothers). Most participants (n=19) were female. CAH has a profound physical, psychological and psychosocial impact on individuals. The psychological wellbeing of women was compromised by trauma from childhood medical examinations and lack of agency in treatment decision. Poor self-esteem, shame and negative body image impaired female social functioning. Female sexual dysfunction from genital malformation/surgery and psychosexual issues negatively impacted intimate relationships. Fertility and reproductive choices were a concern to both sexes. Complex family dynamics with dependent relationships was evident. Conclusion: This study identified a breadth of factors impacting HRQoL in CAH - domains overlooked by an existing measure which predominantly focus on physical symptoms. Further work is needed to develop a sensitive, comprehensive disease-specific HRQoL measure which reflects the lived experience of individuals with CAH to facilitate delivery of patient-centred care and improved patient outcomes.