Endocrine Abstracts

Background: Surgery in women with Congenital Adrenal Hyperplasia (CAH) is one of the most challenging and controversial aspects of the management, having complex ethical implications and a significant impact on patients’ well-being. Our aim was to obtain an overview of the published evidence on the outcomes of surgery in women with CAH, to identify unmet needs in research and clinical care.

Methods: A systematic search of PubMed and Ovid MEDLINE was conducted for studies published between 1994 - 2024. Search terms combined “females” with “CAH”, “feminising genital surgeries”, and “health outcomes”. Search results were stored using the Rayyan platform and screened by two independent reviewers; disagreements were resolved through discussions and by a third reviewer. A thematic analysis of the selected articles was conducted.

Results: The search yielded 394 articles, of which 55 were included (10 multicentre and 45 single-centre; 13 prospective and 42 retrospective). The most frequently reported outcomes were long-term (40 studies, 73%) and surgical outcomes (34 studies, 56%). Reintervention-related outcomes included the need for further surgery (25 studies, 45%) and ongoing dilatation (12 studies, 22%). Four studies examined delivery outcomes and infant mortality post-surgery. Commonly reported surgical complications included incontinence (21 studies, 38%), urinary tract infections (UTIs) (17 studies, 30%), ongoing pain (10 studies, 18%), and fistulas (11 studies, 20%). Regarding UTIs, only 13 studies reported increased prevalence, with reduced clinical severity within the CAH cohort. Long-term outcomes frequently addressed quality of life (QoL) (13 studies) and sexual function (19 studies), with four of the QoL studies additionally exploring the quality of relationships. Findings regarding QoL were heterogeneous: six studies reported no statistically significant difference compared to control groups, while six suggested an association between surgery and reduced QoL. Overall, the lack of control groups in several of the studies limited the validity and generalisability of findings.

Conclusion: Our scoping review found that published evidence on the outcomes of surgery in women with CAH is limited and heterogeneous. There is a need for more robust evidence from multicenter, larger cohort studies that combine quantitative and qualitative methods to help develop benchmarking tools and improve the quality of care.