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 Vol. 9 No. 2, February 2008
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NeoReviews Vol.9 No.2 2008 e78
© 2008 American Academy of Pediatrics

Ambiguous Genitalia in the Newborn

Carolyn Chi, MD*
Henry Chong Lee, MD{dagger}
E. Kirk Neely, MD*

* Division of Pediatric Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif
{dagger} Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif

Efficient and accurate evaluation of the newborn who has ambiguous genitalia is required to provide appropriate medical therapy and assuage parental anxiety. Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who have normal gonads. Congenital adrenal hyperplasia is the most common condition leading to inappropriate virilization in females. Defects in testosterone production, metabolism, or peripheral action can lead to ambiguous genitalia in males. In any condition involving ambiguous genitalia or question of sex assignment, a karyotype should be obtained within 24 hours of delivery. Parents should be apprised of the situation in a professional manner with the appropriate level of detail; sex assignment should be withheld until sufficient data are gathered to make an accurate diagnosis. Families can be counseled with the latest available information and resources to make the best decisions for their individual situations.






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Copyright © 2008 by the American Academy of Pediatrics.