Tests and diagnosis

By 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

If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause. The cause helps guide treatment and decisions about your baby's gender. Your doctor will likely begin by asking questions about your family and medical history. He or she will do a physical exam to check for testes and evaluate your baby's genitalia.

Your medical team will likely recommend these tests:

  • Blood tests to measure hormone levels
  • Blood tests to analyze chromosomes and determine the genetic sex (XX or XY) or tests for single gene disorders
  • Ultrasound of the pelvis and abdomen to check for undescended testes, uterus or 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 your baby. The suggestion will be based on the cause, genetic sex, anatomy, future reproductive and sexual potential, probable adult gender identity and discussion with you.

In some cases, a family may make a decision within a few days after the birth. However, it's important that the family wait until test results are completed. Sometimes gender assignment can be complex and the long-term impact can be difficult to predict. Parents should be aware that as the child grows up, he or she may make a different decision about gender identification.

March 06, 2015