Diagnosis

Ambiguous genitalia is usually diagnosed at birth or shortly after. Doctors and nurses who help with 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 a 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.

Treatment

Once you and your doctor have chosen a gender for your baby, you may choose to begin treatment for ambiguous genitalia. The goal of treatment is long-term psychological and social well-being, as well as to enable sexual function and fertility to the greatest extent possible. When to begin treatment depends on your child's specific situation.

Ambiguous genitalia is uncommon and complex, and it may require a team of experts. The team might include a pediatrician, neonatologist, pediatric urologist, pediatric general surgeon, endocrinologist, geneticist, and psychologist or social worker.

Medications

Hormone medications may help correct or compensate for the hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may reduce the size of the tissue. Other children may take hormones around the time they would normally experience puberty.

Surgery

In children with ambiguous genitalia, surgery may be used to:

  • Preserve normal sexual function
  • Create genitals that appear more typical

The timing of surgery will depend on your child's specific situation. Some doctors prefer to postpone surgery done solely for cosmetic reasons until the person with ambiguous genitalia is mature enough to participate in the decision about gender assignment.

For girls with ambiguous genitalia, the sex organs may work normally despite the ambiguous outward appearance. If a girl's vagina is hidden under her skin, surgery in childhood can help with sexual function later. For boys, surgery to reconstruct an incomplete penis may normalize appearance and make erections possible. Surgery to reposition the testes into the scrotum may be required.

Results of surgery are often satisfying, but repeat surgeries may be needed later. Risks include a disappointing cosmetic result or sexual dysfunction, such as an impaired ability to achieve orgasm.

Ongoing care

Children with ambiguous genitalia require ongoing medical care and monitoring for complications, such as cancer screenings, into adulthood.

Coping and support

If your baby is diagnosed with ambiguous genitalia, you may worry about your child's future. Mental health professionals can help you deal with this difficult and unexpected challenge. Ask your child's doctor for a referral to a mental health professional who has experience helping people in your situation.

In addition to ongoing counseling for your family and your child, you may benefit from a support group, either in person or online. Your child can benefit from ongoing counseling by mental health professionals and participation in support groups into adulthood.

Not knowing the gender of your newborn immediately can turn a hoped-for celebration into a stressful crisis. Your medical team will provide you with updates and information as quickly as possible to help settle any questions about your child's health.

Consider delaying a formal announcement of the birth until testing is complete and you've developed a plan with advice from your medical team. Give yourself some time to learn and think about the issue before answering difficult questions from family and friends.

Preparing for your appointment

If your baby was born with ambiguous genitalia, you may be referred to a medical center with doctors who have expertise in this condition. Here's some information to help you get ready for your appointment and learn what to expect from your doctor.

What you can do

Before your appointment:

  • Ask if there's anything you need to do in advance to prepare your infant for tests and procedures.
  • Discuss family history with your relatives and bring key personal information, including family history of genetic diseases or conditions, such as ambiguous genitalia.
  • Consider taking a family member or friend along. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
  • Make a list of questions to ask your doctor.

Questions to ask your doctor may include:

  • What caused my baby's uncertain genitalia?
  • What genetic testing has been completed?
  • What other tests might my baby need?
  • What is the best course of action?
  • What are the alternatives to the primary approach that you're suggesting?
  • Is there a generic alternative to the medicine you're prescribing?
  • Are there any restrictions that my baby needs to follow?
  • Should my baby see any other specialists?
  • What options are there for counseling and support for our family?
  • Are there brochures or other printed materials that I can have? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you several questions, such as:

  • Does your family have a history of ambiguous genitalia?
  • Does your family have a history of other genetic diseases?
  • Do any diseases or conditions tend to run in your family?
  • Have you ever had a miscarriage?
  • Have you ever had a child who died in infancy?

Be ready to answer questions to allow more time to cover other points you want to address.

April 18, 2018
References
  1. What is ambiguous (uncertain) genitalia? Urology Care Foundation. https://www.urologyhealth.org/urologic-conditions/ambiguous-(uncertain)-genitalia. Accessed Dec. 15, 2017.
  2. Houk CP, et al. Evaluation of the infant with atypical genitalia (disorder of sex development). https://www.uptodate.com/contents/search. Accessed Dec. 15, 2017.
  3. Houk CP, et al. Management of the infant with atypical genitalia (disorder of sex development). https://www.uptodate.com/contents/search. Accessed Dec. 15, 2017.
  4. Davies K. Disorders of sex development—Ambiguous genitalia. Journal of Pediatric Nursing. 2016;31:463.
  5. Indyk JA. Disorders/differences of sex development (DSDs) for primary care: The approach to the infant with ambiguous genitalia. Translational Pediatrics. 2017;6:323.
  6. Lanpher BC (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 5, 2018.