Abstract

X-linked hypophosphatemic rickets (XLH) requires lifelong, coordinated, and multidisciplinary care, and the transition from pediatric to adult services represents a particularly vulnerable period often accompanied by reduced treatment adherence and a greater risk of loss to follow-up. This review aims to provide a clear, practical framework for supporting the transition of adolescents and young adults with XLH by synthesizing international guidelines, consensus statements, and clinical practice reports published up to August 2025. Current recommendations highlight the importance of early assessment of transition readiness, structured and developmentally appropriate education for patients and their families, close collaboration between pediatric and adult endocrinology teams, and the continuation of therapy with standardized monitoring protocols. A well-designed yet flexible transition pathway may support adherence, ensure continuity of care, and contribute to improved long-term outcomes. By summarizing existing evidence and identifying areas where data remain limited, this review underscores the need for prospective studies to better define optimal management strategies for adults living with XLH.