Narrative Review of Ambiguous Genitalia in Children: Diagnostic Approaches, Surgical Management, and Psychosocial Outcomes

Ambiguous genitalia in children, a condition within Disorders of Sex Development (DSDs), presents significant medical, surgical, and psychosocial challenges. The prevalence of DSDs is estimated at 1 in 2,735 to 1 in 10,000 live births, with conditions like congenital adrenal hyperplasia being more commonly diagnosed. Despite progress in diagnosis, ambiguous genitalia continues to pose complex issues for families and healthcare providers. Diagnosis is traditionally based on physical examination but has evolved with genetic, hormonal, and molecular diagnostics, necessitating a multidisciplinary approach. This narrative review synthesizes current knowledge on diagnostic methods, surgical management, and psychosocial outcomes for ambiguous genitalia. A literature search was conducted across PubMed and ScienceDirect for studies published between 2020 and January 18, 2026. Studies were selected based on their relevance to ambiguous genitalia, diagnostic approaches, surgical interventions, and psychosocial aspects in children. Studies involving adults or neonates without ambiguous genitalia were excluded. The review found that early diagnosis is crucial for sex assignment and surgical decisions, though ethical concerns about early interventions persist. Surgical practices emphasize personalized care, but significant challenges remain regarding timing and psychosocial impact. There are gaps in long-term outcome studies and the integration of psychosocial support in clinical practice. In conclusion, standardized multidisciplinary care and more research on the psychosocial aspects of DSD management are essential. Clinicians should prioritize patient-centered care and family involvement in decision-making, while future research should focus on long-term outcomes and psychosocial support for affected children.