Ambiguous Genitalia: Evaluation and Management in the Newborn

Infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. Disorders of sexual development (DSD) are classified into 3 major categories (46,XY DSD, 46,XX DSD, and sex chromosome DSD). A thorough history, physical examination, and appropriate diagnostic testing are needed to identify the underlying etiology. An understanding of normal sexual development can help clinicians tailor their initial diagnostic evaluation for an infant with ambiguous genitalia. The involvement of a multidisciplinary team that is experienced in DSD is essential. Sex assignment should be made only after all diagnostic evaluations have been considered; families should be an integral part of the decision-making process. Objectives After completing this article, readers should be able to: 1. Describe the normal process of sexual development for male and female