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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Articles| February 01 2008
Ambiguous Genitalia in the Newborn
Carolyn Chi, MD;
Henry Chong Lee, MD;
Neoreviews (2008) 9 (2): e78–e84.
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Carolyn Chi, Henry Chong Lee, E. Kirk Neely; Ambiguous Genitalia in the Newborn. Neoreviews February 2008; 9 (2): e78–e84. https://doi.org/10.1542/neo.9-2-e78
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