Overview

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

Ambiguous genitalia isn't a disease, it's a disorder of sex development. Usually, ambiguous genitalia is obvious at or shortly after birth, and it can be very distressing for families. Your medical team will look for the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about your baby's gender and any necessary treatment.

April 18, 2018
  1. What is ambiguous (uncertain) genitalia? Urology Care Foundation. https://www.urologyhealth.org/urologic-conditions/ambiguous-(uncertain)-genitalia. Accessed Dec. 15, 2017.
  2. Houk CP, et al. Evaluation of the infant with atypical genitalia (disorder of sex development). https://www.uptodate.com/contents/search. Accessed Dec. 15, 2017.
  3. Houk CP, et al. Management of the infant with atypical genitalia (disorder of sex development). https://www.uptodate.com/contents/search. Accessed Dec. 15, 2017.
  4. Davies K. Disorders of sex development—Ambiguous genitalia. Journal of Pediatric Nursing. 2016;31:463.
  5. Indyk JA. Disorders/differences of sex development (DSDs) for primary care: The approach to the infant with ambiguous genitalia. Translational Pediatrics. 2017;6:323.
  6. Lanpher BC (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 5, 2018.

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