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Tests and diagnosis
By Mayo Clinic staffIf your baby is born with ambiguous genitalia, you and your doctor will want to determine the underlying abnormality and extent of deformity. The first indication of ambiguous genitalia will be by a physical examination. Your doctor will likely recommend the following tests and procedures:
- Blood and urine tests to measure hormone levels
- Chromosome analysis to determine the genetic sex (XX or XY)
- Ultrasound to check for the presence of internal female sex organs
- A biopsy of your newborn's reproductive organs to determine if the organs will produce appropriate sex hormones for the sex assigned to the child
- A genitogram, a special X-ray to see if a vagina is present and its size
Using the information gathered from these tests, your doctor may suggest an appropriate sex for the baby.
Despite the social stigma attached to not knowing if your baby is a boy or a girl right away, some research shows that delaying gender assignment until the child is older may be of benefit. If the gender assignment is made too early, and the correct decision isn't made, your child may be confronted with difficult psychological and social issues later in life.
