Ambiguous genitalia


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Definition

By Mayo Clinic staff

Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In ambiguous genitalia, a baby's genitals may not be well formed or the baby may have characteristics of both sexes. In a baby with ambiguous genitalia, the external sex organs may not match the internal sex organs.

Ambiguous genitalia isn't a disease. Instead, it is a sign of a condition that affects sexual development.

Ambiguous genitalia is usually obvious at or shortly after birth. Ambiguous genitalia can be very distressing for families. Your medical team will determine the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about the baby's gender.

References
  1. Ambiguous genitalia. American Urological Association Foundation. http://www.urologyhealth.org/urology/index.cfm?article=90. Accessed Feb. 14, 2012.
  2. Tanagho EA, et al. Smith's General Urology. 17th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=21. Accessed Feb. 16, 2012.
  3. Murphy C, et al. Ambiguous genitalia in the newborn: An overview and teaching tool. Journal of Pediatric and Adolescent Gynecology. 2011;24:236.
  4. Barbaro M, et al. Disorders of sex development. Seminars in Fetal and Neonatal Medicine. 2011;16:119.
DS00668 March 16, 2012

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