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.
Mar. 16, 2012
Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In ambiguous genitalia, a baby's genitals may not be well formed or the baby may have characteristics of both sexes. In a baby with ambiguous genitalia, the external sex organs may not match the internal sex organs.
Ambiguous genitalia isn't a disease. Instead, it is a sign of a condition that affects sexual development.
Ambiguous genitalia is usually obvious at or shortly after birth. Ambiguous genitalia can be very distressing for families. Your medical team will determine the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about the baby's gender.