Endocrine Abstracts

JOINT2392

Background: Congenital adrenal hyperplasia (CAH) is a rare genetic disorder caused by an enzyme deficiency in the adrenal glands, resulting in insufficient cortisol and aldosterone production and high androgen levels. Girls with CAH are often born with virilized genitalia. For long, early feminizing surgery has been proposed to manage the situation. This practice has become a subject of medical and ethical debate while experiences of those who are directly impacted remain underrepresented in research.

Objective: To understand the perception of adult females diagnosed with CAH, who underwent genital surgery in childhood, on early feminizing surgery.

Methods: We organized a focus group, complemented with two individual interviews; all audio-recorded. The group discussion focused on participants’ experiences with the surgery they had and their perception in the present debate. The recorded discussion was transcribed. The transcribed discussion was uploaded in NVivo, a software for data analysis. Thematic analysis, a structured method to identify and analyze discussions, elucidated themes across the data set on participants’ experiences, views, opinions and values.

Results: Arguments pro early feminizing surgery — with the number of respondents who mentioned the argument between brackets — were societal participation (4), psychological well-being (4), reduced medical burden (3), body acceptance (3), potential need to explain their gender (3), align external genitalia with the experienced gender (3), challenge of determining the appropriate cut-off age (2), easier recovery at a younger age (2), preserving fertility and pregnancy (2), and reduced decisional distress (2). Arguments against feminizing surgery were autonomy (4), bodily integrity (2), complications (2), minimizing surgical interventions (2) and irreversibility (1). If their own daughter would have CAH, three women expressed a preference for surgery as early as possible.

Discussion: Participants underscored the importance of psychosocial support and the influence of family and societal acceptance on mental health, a positive self-image, and social participation. Participants proposed a preference for management of CAH that balances respect for patient autonomy and sensitivity to societal and medical contexts. The results indicated a divergence between the complex lived experiences of patients and the perspectives brought by activist movements, underscoring a gap in research on patient-reported outcomes in CAH.

Conclusions: This study highlights the necessity for more patient-centered management and further investigation into both surgical and non-surgical management options for CAH.