Ambiguous Genitalia

Disorders of sex development (DSDs) comprise a spectrum of disorders in which chromosomal, genetic, gonadal, hormonal, or anatomic aspects of sex are atypical. Understanding the developmental biology and embryology of the urogenital system is crucial to categorizing and identifying the molecular basis of the disorder in an individual patient. Multiple genes, epigenetic factors, environmental factors, and protein interactions are involved in the processes of gonadal differentiation and sex development. The physician’s responsibility for the management of this child starts early, even before birth for infants identified through prenatal testing, and continues until transition to adult care providers is deemed appropriate. The number and capability of the genetic tools available to identify the molecular basis have increased. Considerations include a holistic approach to the child with a DSD, inclusion of the parents, recognition of psychological wellbeing, the role for support groups, and need for comprehensive longitudinal care.