Factors affecting the quality of life of adults living with Congenital Adrenal Hyperplasia: a qualitative study of lived experience

James, K. Lynette, Parkin, Nicola, Elford, Sue, McKnight, Christine, Phillips, Rhiannon, Pickles, Timothy, Ahmed, S. Faisal, Krone, Nils, Llahana, Sofia, O’Reilly, Michael, Tomlinson, Jeremy W. and Rees, D. Aled ORCID: https://orcid.org/0000-0002-1165-9092 2026. Factors affecting the quality of life of adults living with Congenital Adrenal Hyperplasia: a qualitative study of lived experience. Endocrine Connections 15 (5) , e260033. 10.1530/EC-26-0033

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Psychology Schools > Medicine Schools > Pharmacy
Publisher:	BioScientifica
ISSN:	2049-3614
Date of First Compliant Deposit:	22 April 2026
Date of Acceptance:	21 April 2026
Last Modified:	03 Jun 2026 10:20
URI:	https://orca.cardiff.ac.uk/id/eprint/186578

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