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 not be well-formed 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 sign of a condition that affects sexual development, and it's referred to as a disorder of sexual development.
Usually, ambiguous genitalia is obvious at or shortly after birth, and it 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 your baby's gender and any necessary treatment.
March 06, 2015
- Ambiguous (uncertain) genitalia. Urology Care Foundation. http://www.urologyhealth.org/urology/index.cfm?article=90. Accessed Feb. 5, 2015.
- Houk CP, et al. Management of the infant with ambiguous genitalia. www.uptodate.com/home. Accessed Feb. 5, 2015.
- Arboleda VA, et al. DSDs: Genetics, underlying pathologies and psychosexual differentiation. Nature Reviews Endocrinology. 2014;10:603.
- Romao RLP, et al. Update on the management of disorders of sex development. Pediatric Clinics of North America. 2012;59:853.
- Rothkopf AC, et al. Understanding disorders of sexual development. Journal of Pediatric Nursing. 2014;29:e23.
- Wick MJ (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 12, 2015.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 25, 2015.
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