Causes

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.