Gender differences in self-reported quality of life and bowel function among patients with anorectal malformation and Hirschsprung's disease compared to a healthy population: a multicenter cross-sectional study.

Purpose: Anorectal malformations (ARM) and Hirschsprung's disease (HD) are congenital conditions that impact quality of life (QoL) and bowel function. Understanding gender-specific differences in these domains is essential for tailored clinical care and patient support. This study aimed to explore gender differences in QoL and bowel function among patients with ARM and HD compared to healthy controls.

Method: Patients with ARM and HD aged 5-17 years at four tertiary referral centres, who had primary corrective surgery done > 12 months prior, were recruited between December 2020 and February 2023. Quality of life was assessed using the Pediatric Quality of Life Inventory (PedsQL ™) Generic Core Scales 4.0 and General Well-Being Scale 3.0., while bowel function was evaluated using the Rintala Bowel Function Score (BFS). Statistical analysis was performed, with p < 0.05 significance.

Results: A total of 202 participants aged between 5 and 17 years were enrolled: 65 ARM patients, 54 HD patients, and 83 healthy controls. Participants were grouped by gender and age (5-7, 8-12, and 13-17 years). No significant gender differences in QoL scores were found in ARM or control groups. However, among HD patients aged 8-12 years, males reported significantly higher physical health scores than females (p = 0.01), but no significant gender differences were found in other domains. Healthy controls consistently reported higher QoL scores, regardless of gender. Bowel Function Scores were comparable between genders in ARM and HD patients, while healthy controls uniformly reported the highest scores.

Conclusion: Our study did not reveal gender differences in QoL and bowel function outcomes in ARM and HD patients, except in physical health scores of HD patients aged 8-12, possibly due to low sampling of females. Healthy controls consistently demonstrated superior outcomes. The use of generic QoL tools may be inadequate to draw out gender-related concerns. Larger studies should integrate gender-specific considerations to inform holistic clinical care and long-term management of ARM and HD patients.