Ambiguous genitalia

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Treatment

Ambiguous genitalia

Alternative Names:

Genitals - ambiguous
Home Care:

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Because of the potential social and psychological effects of this condition, the decision to raise the child as male or female should be made early after diagnosis, preferably within the first few days of the infant's life.

Call your health care provider if:

You are concerned about the appearance of your child's external genitalia.
Your baby takes more than 2 weeks to regain his/her birthweight, is vomiting, looks dehydrated (dry inside of mouth, no tears when crying, less than 4 wet diapers per 24 hours, eyes look sunken in), has decreased appetite, has blue spells, or has trouble breathing (these can all be signs of congenital adrenal hyperplasia).

Ambiguous genitalia may be discovered during the first well-baby examination.

What to expect at your health care provider's office:

The doctor will perform a physical examination, which may reveal a genital structure that is not "typical male" or "typical female," but somewhere in between. The doctor will ask medical history questions, such as:

family history questions to help identify inherited chromosomal disorders
- Is there any family history of miscarriage?
- Is there any family history of stillbirth?
- Is there any family history of early death?
- Have any family members had infants who died in the first few weeks of life or who had ambiguous genitalia?
- Is there any family history of any of the disorders that cause ambiguous genitalia (see the Common Causes section)?
medications
- What medications has the mother taken before or during pregnancy (especially steroids)?
other
- What other symptoms or abnormalities are also present?

DIAGNOSTIC TESTS

Genetic testing can determine if the child is a genetic male or female. Often a small sample of cells can be scraped from inside the cheeks (this is called a buccal smear ); examination of these cells is often sufficient to determine the genetic sex of the infant. Chromosomal analysis is a more extensive cell study that may be needed in more questionable cases.

Endoscopy, abdominal X-ray, abdominal or pelvic ultrasound, and similar tests may be needed to determine the presence or absence of internal genital structures (such as undescended testes).

Laboratory tests may help determine the functioning of reproductive structures, including tests for 17-ketosteroids.

In some cases, laparoscopy, exploratory laparotomy, or biopsy of the gonads may be necessary to confirm disorders associated with ambiguous genitalia.