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.

What causes ambiguous genitalia? 

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.

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: 3/30/2018 7:43:11 AM


Upcoming Events

Camp Roaring Sun

Camp Roaring Sun is a camp exclusively for children ages 6 through 12 with diabetes who are treated at Nicklaus Children's Hospital. Learn more.

Weekly Support Programs

​F.O.C.U.S. Program

8 week program. This group therapy program is designed for children ages 7 to 17 with behaviorial issues, including but not limited to ADHD. The weekly sessions teach innovative techniques to assist children with managing feelings, developing organization skills, maximizing their concentration abilities and socialization skills. Learn more.

Calm Kids

8 week program. Calm Kids is a weekly group therapy course designed to teach children strategies on how to take control over anxiety symptoms. Children will learn how to cope with fears and worries, identify anxiety triggers, how to relax the mind and body and maximize their self-confidence. Learn more.

Social Skills Group

8 week program. Children and teens ages 7 to 17 are invited to join this small discussion group to learn how to make, cultivate and maintain friendships. Participants will learn basic conversational skills, and discuss the use of appropriate humor, how to electronically connect with others, and how to manage disagreements. Learn more.