[Understanding pathogenesis and evolving strategies in the management of differences of sex development in children].

Differences/disorders of sex development (DSD) represent a spectrum of congenital conditions characterized by discordance among chromosomal, gonadal, and phenotypic sex. These disorders exhibit marked clinical and molecular heterogeneity and constitute an important domain within birth-defect prevention and life-course health management in pediatric and adolescent care. Evolving clinical paradigms have shifted management from isolated medical interventions toward integrated, multidisciplinary approaches spanning childhood, puberty, and adulthood. This article systematically examines the pathogenesis of DSD, with particular emphasis on dysregulation of gene networks, hormonal signaling, and developmental timing during sex determination and differentiation. It further delineates the molecular etiology and phenotypic spectrum of major genetic subtypes, including 46, XY DSD, 46, XX DSD, and sex chromosome DSD. A multidisciplinary diagnostic and screening pathway is summarized, highlighting the preventive importance of genetic testing, biochemical profiling, and timely evaluation during critical windows such as the neonatal period and mini-puberty to facilitate early detection and precise classification. Regarding treatment and long-term care, this article outlines key principles for gender assignment, hormone therapy, pubertal induction, and follow-up, underscoring the role of individualized decision-making and psychosocial support in improving long-term outcomes. Finally, future directions in DSD care are discussed, including advances in precision medicine, artificial intelligence-assisted genomic interpretation, and the development of comprehensive patient-and family-support systems.