Ambiguous genitalia

Alternative names:

genitals - ambiguous

Home care:

Because of the potential social and psychological effects of this condition, the decision to raise the child as a 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:

(Ambiguous genitalia are usually discovered during the initial newborn examination or by the first well-baby examination.)

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

The medical history will be obtained and a physical examination performed.

Medical history questions documenting ambiguous genitalia in detail may include:

• family history (These questions may be asked 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 (normally during the first few months of life)?
• 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?

Physical examination reveals questionable genital structure.

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 study of cells that may be needed in more questionable cases.

Endoscopy, abdominal X-ray, ultrasound or MRI, or similar studies may be needed to determine the presence or absence of internal genital structures.

Laboratory tests may help determine the possible causes for ambiguous genitalia, including tests for 17-ketosteroids, serum cortisol levels and other adrenal hormones, electrolytes.

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

Interventions:
Depending on the cause, surgery, hormone replacements, or other treatments are used to treat conditions associated with ambiguous genitalia.

Sometimes, the ambiguity is such that a choice must be made whether to raise the child as a male or female (regardless of the genetic pattern). This choice can have tremendous social and psychological impact on the child, so counseling usually is recommended.

Note: In some cases, such as testicular feminization syndrome, it is technically and psychologically better to treat and raise the child as a female.

After seeing your health care provider:
You may want to add a diagnosis related to ambiguous genitalia to your personal medical record.