Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. The external sex organs may not match the internal sex organs or genetic sex.
Ambiguous genitalia isn't a disease, it's a disorder of sex development. Usually, ambiguous genitalia is obvious at or shortly after birth, and it can be very distressing for families. Your medical team will look for the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about your baby's gender and any necessary treatment.
Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born. Occasionally, ambiguous genitalia may be suspected before birth (prenatally). Characteristics can vary in severity, depending on when during genital development the problem occurred and the cause of the disorder.
Babies who are genetically female (with two X chromosomes) may have:
Babies who are genetically male (with one X and one Y chromosome) may have:
Ambiguous genitalia primarily occurs when hormone abnormalities during pregnancy interrupt or disturb the fetus's developing sex organs.
A baby's genetic sex is established at conception, based on the sex chromosomes. The mother's egg contains an X chromosome, and the father's sperm contains either an X or a Y chromosome. A baby who inherits the X chromosome from the father is a genetic female (two X chromosomes). A baby who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome).
Male and female sex organs develop from the same tissue. Whether this tissue becomes male organs or female organs depends on the chromosomes and the presence or absence of male hormones.
Occasionally, a chromosomal abnormality may make determination of genetic sex complex.
A disruption of the steps that determine sex can result in a mismatch between the appearance of the external genitals and the internal sex organs or the genetic sex (XX or XY).
Causes of ambiguous genitalia in a genetic female may include:
Causes of ambiguous genitalia in a genetic male may include:
Ambiguous genitalia can also be a feature of certain rare, complex syndromes that affect many organ systems.
Family history may play a role in the development of ambiguous genitalia, because many disorders of sex development result from genetic abnormalities that can be inherited. Possible risk factors for ambiguous genitalia include a family history of:
If your family has a history of these risk factors, consider seeking medical advice before trying to conceive. You may also benefit from genetic counseling.
Complications of ambiguous genitalia may include:
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.
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:
In certain cases, minimally invasive surgery may be necessary to collect a tissue sample of your newborn's reproductive organs.
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.
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.
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.
In children with ambiguous genitalia, surgery may be used to:
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.
Children with ambiguous genitalia require ongoing medical care and monitoring for complications, such as cancer screenings, into adulthood.
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.
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.
Before your appointment:
Questions to ask your doctor may include:
Don't hesitate to ask other questions during your appointment.
Your doctor is likely to ask you several questions, such as:
Be ready to answer questions to allow more time to cover other points you want to address.
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