ECEESPE2025 ePoster Presentations Adrenal and Cardiovascular Endocrinology (170 abstracts)
Thematic analysis of quality of life in a community-based sample of adults living with congenital adrenal hyperplasia reveals a significant unmet medical need
Kathryn James 1 , Parkin Nicola 2 , Syed Ahmed 3 , Sue Elford 4 , Yasir Elhassan 5 , Nils Krone 6 , Sofia Llahana 7 , Christine McKnight 8 , Michael O’Reilly 9 , Jeremy Tomlinson 10 , Rhiannon Phillips 8 & Dafydd Rees 2
1Cardiff and Vale University Health Board, Cardiff University, Cardiff, United Kingdom; 2Cardiff University, Cardiff, United Kingdom; 3University of Glasgow, Glasgow, United Kingdom; 4Living with CAH Support Group, Tamworth, United Kingdom; 5Queen Elizabeth University Hospital Birmingham, Birmingham, United Kingdom; 6University of Sheffield, Sheffield, United Kingdom; 7City St George’s, University of London, London, United Kingdom; 8Cardiff Metropolitan University, Cardiff, United Kingdom; 9RCSI Education & Research Centre, Beaumont Hospital, Dublin, Ireland; 10University of Oxford, Oxford, United Kingdom
JOINT278
Introduction: Congenital adrenal hyperplasia (CAH) is a genetic disorder most commonly arising due to partial or total deficiency of the 21-hydroxylase enzyme, leading to decreased cortisol production and increased androgen secretion. The physical manifestations of CAH are well recognised but the effects on quality of life are unclear.
Aim: To explore the impact of CAH on quality of life.
Methods: In-depth, semi-structed interviews were undertaken virtually with a purposive sample of adults (>18 years) with CAH. Participants were recruited via the Living with CAH patient support group. Interviews were audio-recorded, transcribed verbatim and analysed inductively using reflexive thematic analysis. Ethical approval was obtained for the study.
Results: Twenty-one interviews were conducted with 4 men and 17 women living with CAH (median age = 41; age range: 20-62 years). Twenty had classical CAH and 1 had non-classical CAH. CAH was considered part of a participant’s identity. The impact on quality of life was variable with significant effect at transitions of life (e.g. adolescence, family planning, menopause). The experiences of males and females were different, with females reporting greatest negative impact. Adrenal crises were physical effects noted by all participants. Females reported significant distress from precocious puberty, hirsutism and acne. Thirteen women had undergone genital surgery with a few participants reporting complications such as painful intercourse, urinary tract infections and incontinence. Medication side-effects (osteoporosis, diabetes, weight gain) were of particular concern to older participants but life-dependent need for steroid treatment outweighed the risks. Participants reported psychological symptoms including anxiety and depression. Female participants experienced childhood trauma from exhibiting genitalia during medical examinations and lack of agency in treatment decision, leading to mistrust of the medical profession. Complex family dynamics were also noted. Feelings of shame were often instilled in childhood with a reluctance to disclose the name of the condition to relatives and friends. Consequently, participants reported isolation and loneliness with difficulty forming friendships and intimate partner relationships. Maladaptive coping strategies including disordered eating, alcohol and substance misuse were also reported by a minority of individuals.
Discussion: CAH has a profound physical, psychological and psychosocial impact on individuals with loss of adjustment significant at transitions of life. Adopting a trauma-informed approach to care has the potential to improve patient health outcomes and quality of life. The study findings are limited to a self-selecting sample of predominantly females with CAH. Further work will explore the generalisability of the results to the wider CAH community.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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