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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.
TREATMENT
Depending on the cause, surgery, hormone replacement, 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 male or female (regardless of the child's chromosomes). This choice can have tremendous social and psychological impact on the child, so counseling is usually recommended.
Note: It is often technically easier to treat (and therefore raise) the child as female (it is easier for a surgeon to make female genitalia than it is to make male genitalia), so in some cases this is recommended even if the child is genetically male. However, this is a difficult decision and should be discussed with your family, your doctor, and the surgeon involved.
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