Ambiguous Genitalia

Also known as: uncertain genitalia.

What are ambiguous 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/too much of a hormone or the hormone could not act correctly because of insensitivity of the organ itself.

What causes ambiguous genitalia?

Some examples are:

  • A genetic female produces an excess of male hormone from the adrenal gland (congenital adrenal hyperplasia)- she might have a small penis.

  • A genetic male’s genital tissue doesn’t respond normally to male hormones because of a genetic abnormality (androgen insensitivity syndrome), or not enough testosterone is produced by the baby’s testis. He might have a penis so small that it resembles a clitoris.

What are the symptoms of ambiguous genitalia?

Infants fall into a number of broad groups. Nicklaus Children’s Hospital group of geneticists, endocrinologists, urologists, pediatric surgeons, neonatologists, psychologists and social workers will explain, where appropriate the many variations within each group.

What are ambiguous genitalia care options?

Treatments for these quite rare conditions depend on the type of the disorder, but may include a combination of hormone medications and corrective surgery to produce the appropriate external sex organs. Timing of treatment will depend on a number of issues and will occur following a full discussion between parents and all members of the health care team involved.


Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 9/27/2019 4:19:09 PM