The doctor will perform a physical examination, which may reveal genitals that are not "typical male" or "typical female," but somewhere in between.
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 child's 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 determine the presence or absence of the internal genitals (such as undescended testes).
Laboratory tests may help determine how well the reproductive organs are functioning. This can include tests for adrenal and gonadal steroids.
In some cases, laparoscopy, exploratory laparotomy, or biopsy of the gonads 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.
Sometimes, the parents must choose whether to raise the child as male or female (regardless of the child's chromosomes). This choice can have a big 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. You should discuss it with your family, your child's doctor, the surgeon, your child's endocrinologist, and other health care team members.