Tests and diagnosisBy Mayo Clinic staff
Ambiguous genitalia is usually diagnosed at birth or shortly after. Doctors and nurses who help with your delivery may notice the signs of ambiguous genitalia in your newborn.
Determining the cause of ambiguous genitalia
If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause of the disorder. The cause helps guide treatment and decisions about the baby's gender. Your doctor will likely begin by asking questions about your family and medical history and will do a physical exam to check for testes and evaluate the infant's genitalia.
Your medical team will likely recommend the following tests and procedures:
- Blood tests to measure hormone levels
- Blood tests to analyze chromosomes and determine the genetic sex (XX or XY)
- Ultrasound of the pelvis and abdomen to check for undescended testes, uterus and vagina
- X-ray studies using a contrast dye to help clarify anatomy
- In certain cases, minimally invasive surgery may be necessary to collect a tissue sample of your newborn's reproductive organs
Determining the gender
Using the information gathered from these tests, your doctor may suggest an appropriate gender for the baby. The suggestion will be based on the genetic sex, anatomy, and future reproductive and sexual potential. Usually, a family can make a decision within a few days after the birth. Parents should be aware that as the child grows up, he or she may make a different decision about gender identification.
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- Murphy C, et al. Ambiguous genitalia in the newborn: An overview and teaching tool. Journal of Pediatric and Adolescent Gynecology. 2011;24:236.
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