Ambiguous genitalia

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Genitals - ambiguous

You are concerned about the appearance of your child's external genitalia, or 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 four wet diapers per 24 hours, eyes look sunken in)
• Has a decreased appetite
• Has blue spells
• Has trouble breathing

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

The doctor will perform a physical examination, which may reveal genitals that are not "typical male" or "typical female," but somewhere in between.

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The doctor will ask medical history questions to help identify any chromosomal disorders. Questions may include:

• 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?
• What medications did the mother take before or during pregnancy (especially steroids)?
• What other symptoms are present?

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). Examining these cells is often enough 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 look at the internal genitals (such as undescended testes).

Laboratory tests may help determine how well the reproductive organs are functioning. This can include tests for 17-ketosteroids.

In some cases, laparoscopy, exploratory laparotomy, or biopsy may be needed to confirm disorders that can cause ambiguous genitalia.

Depending on the cause, surgery, hormone replacement, or other treatments are used to treat conditions that can cause ambiguous genitalia.