Disorders of sexual development (DSDs) are a group of disorders in which there is discordance between anatomic or hormonal sex and sex chromosome complement. These disorders present with ambiguity in the newborn period and require prompt evaluation to determine the underlying cause for treatment and appropriate sex assignment of the infant. Neonatologists should confer with a multidisciplinary team for the diagnostic evaluation and management of patients with DSDs. This article provides a review of normal sexual development, algorithms used for evaluating infants with ambiguous genitalia, and conditions that can present with ambiguous genitalia in the newborn period.
Keywords: Ambiguous genitalia; Disorders of sexual development (DSDs); Neonates; Sex assignment.
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