Differences or disorders of sex development (DSD) comprise a heterogeneous group of rare conditions affecting sex development. Due to their complexity and rarity, timely diagnosis and coordinated multidisciplinary care are essential to ensure appropriate clinical management and support for affected children, adolescents, and their families.

To provide updated guidance on the initial evaluation and management of children and adolescents with a suspected difference or disorder of sex development, including recommendations for diagnostic assessment, specialist referral, and multidisciplinary care.

The guidance emphasizes that children and adolescents with suspected DSD should be assessed by experienced clinicians within a specialist multidisciplinary team. Evaluation should include appropriate clinical assessment, biochemical and genetic investigations, and timely communication with families. Psychological and nursing support should be integrated into care pathways.

Optimal care for individuals with DSD requires coordinated multidisciplinary assessment and collaboration between specialist centres. Sharing clinical experience through national and international networks is essential to improve knowledge, outcomes, and support for patients and families affected by these rare conditions.

For rare conditions such as DSD, standardized approaches and collaboration between expert centres are essential. This guidance provides a framework for improving early evaluation, referral pathways, and multidisciplinary management of individuals with suspected differences or disorders of sex development.