Long-term outcomes and quality of life in male patients with anorectal malformations

Background Anorectal malformations (ARMs) are rare congenital anomalies associated with long-term functional and psychosocial challenges. As increasing numbers of patients reach adulthood following contemporary surgical management, long-term outcomes have become an important measure of treatment success. Methods This narrative review summarizes current evidence regarding long-term bowel, urinary, sexual, reproductive, psychosocial, and quality-of-life outcomes in males with ARMs. Mild ARMs were defined as anal stenosis or rectoperineal fistula, and severe ARMS as rectobulbar, rectoprostatic, or bladder neck fistula. Results Long-term outcomes vary according to ARM severity. In adulthood, symptomatic constipation affects 12% of males with mild ARMs and 13% with severe ARMs. Total faecal continence is achieved in 67% to100% and 30% to 96%, respectively, while social continence is reported in 98% to 100% and 76% to 85%. Regular bowel management or antegrade continence enemas are required by 0% of patients with mild ARMs and 10% to 25% with severe ARMs. Urinary incontinence affects 0% to 39% and 2% to 28%, respectively, whereas chronic kidney disease is substantially more frequent in severe ARMs (28% to 60%) than mild ARMs (9%). Erectile and ejaculatory dysfunction are reported in 0% to 3% of patients with mild ARMs and 0% to 10% with severe ARMs. Overall quality of life is generally comparable to healthy controls in mild ARMs but may be reduced in patients with severe malformations and impaired continence. Functional impairment can adversely affect psychosocial well-being, relationships, and social participation. Conclusions Males with ARMs are at risk of long-term bowel, urinary, sexual, reproductive, and psychosocial complications, particularly following severe malformations. Lifelong multidisciplinary follow-up and structured transition to adult care are essential to optimize function and quality of life.