What are ambiguous genitalia?

Also known as: uncertain genitalia.

When a newborn infant's genitals are not clearly male or female, the infant is said to have ambiguous genitalia. The baby genitals may have external features of both sexes and/or the sex organs may not match his/her internal sex organs or their genetic sex.

While the cause is not always known, abnormalities of sex organ development may result from genetic, or environmental (from for example the mother taking some hormones or drugs) factors, or the baby may not produce enough or too much of a hormone or the hormone could not act correctly because of insensitivity of the organ itself.

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Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM