Diagnosis

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.

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 more natural-looking genitals

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 improve appearance and make erections possible.

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.

Coping and support

If your baby is diagnosed with ambiguous genitalia, you may worry about your child's future. Mental health providers can help you deal with this difficult and unexpected challenge. Ask your child's doctor for a referral to a therapist or counselor 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.

Not knowing the gender of your newborn immediately can turn a hoped-for celebration into a stressful crisis. Until the medical evaluation is complete, try to avoid thinking of your child as either a boy or a girl.

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. Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well-prepared. Here's some information to help you get ready for your appointment and know 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.

For ambiguous genitalia, you may want to ask your doctor questions such as:

  • 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 a specialist?
  • 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. Be ready to answer them to allow more time to cover other points you want to address. Your doctor may ask:

  • 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?
March 06, 2015
References
  1. Ambiguous (uncertain) genitalia. Urology Care Foundation. http://www.urologyhealth.org/urology/index.cfm?article=90. Accessed Feb. 5, 2015.
  2. Houk CP, et al. Management of the infant with ambiguous genitalia. www.uptodate.com/home. Accessed Feb. 5, 2015.
  3. Arboleda VA, et al. DSDs: Genetics, underlying pathologies and psychosexual differentiation. Nature Reviews Endocrinology. 2014;10:603.
  4. Romao RLP, et al. Update on the management of disorders of sex development. Pediatric Clinics of North America. 2012;59:853.
  5. Rothkopf AC, et al. Understanding disorders of sexual development. Journal of Pediatric Nursing. 2014;29:e23.
  6. Wick MJ (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 12, 2015.
  7. Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 25, 2015.