Ambiguous genitalia is a rare condition — usually obvious at or shortly after birth — 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 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 sex.
A newborn's genitals are quite small, and what looks "normal" spans a wide range. Your medical team will likely be the first to recognize the signs of ambiguous genitalia soon after your baby is born.
Ambiguous genitals may have various characteristics. 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:
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A baby's genetic sex is established at conception, based on the 23rd pair of 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. For example, the same fetal tissue that forms a penis in a male forms a clitoris in a female. The process by which the fetus becomes either male or female is complex and includes sex chromosomes, hormonal signals and early genital structures. In males, a region on the Y chromosome triggers the development of testicles, which produce male hormones. The presence or absence of male hormones controls the development of the sex organs. Male genitals develop in response to male hormones from the fetal testicles. In a fetus without a Y chromosome — without the effects of male hormones — the genitals develop as female.
A disruption of these steps can result in a mismatch between the external genitals and the internal sex organs or the chromosomal sex (XX or XY). These problems are known as disorders of sex development (DSDs). Some babies with a DSD have ambiguous genitalia. A lack or deficiency of male hormones in a genetic male fetus can cause ambiguous genitalia, while exposure to male hormones during development results in ambiguous genitalia in a genetic female.
Many different genes influence fetal sex development. Mutations (defects) in these genes can lead to disorders of sex development. Chromosomal abnormalities, such as a missing sex chromosome or an extra one, can also cause ambiguous genitalia. In some cases, disorders of sex development seem to happen by chance.
Possible causes in genetic females
Possible causes in genetic males
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.
Certain drugs with hormonal effects, including oral contraceptives, testosterone, anti-epileptic drugs and steroids, can also increase the risk of ambiguous genitalia. If the mother uses these substances during pregnancy, the developing fetus may be exposed to abnormal levels of hormones.
Many factors influence a person's gender identity. Families of babies born with ambiguous genitalia may need long-term support to help with ongoing issues regarding gender and sexuality. In the past, a baby born with ambiguous genitalia was quickly assigned a gender and surgery was performed to ensure the baby looked like a boy or girl. The newer approach encourages parents to allow children born with ambiguous genitalia to participate in decisions about their gender as they grow up.
The future sexual functioning and fertility of a baby born with ambiguous genitalia depends on the specific diagnosis. For example, genetic females with congenital adrenal hyperplasia usually can get pregnant if they so choose.
Some disorders of sex development are associated with an increased risk of cancer in sex organs or the liver.
Tests and diagnosis
If your baby is born with ambiguous genitalia, the first step is to determine the underlying cause of the disorder. This information helps guide treatment and decisions about the baby's gender. Because ambiguous genitalia is an uncommon and complex condition, you may be referred to a medical center with doctors who have expertise in disorders of sex development. The team might include a pediatrician, neonatologist, pediatric urologist, pediatric general surgeon, endocrinologist, geneticist, and psychologist or social worker.
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:
If these tests don't provide enough information to establish a diagnosis, your doctor may use minimally invasive surgery (laparotomy or laparoscopy) to take a tissue sample (biopsy) of your newborn's reproductive organs. Specialized testing can provide more information about the cause of the sex disorder.
Assigning the sex
Treatments and drugs
When treating ambiguous genitalia, the goals are to ensure long-term psychological and social well-being, sexual function, fertility, a gender-appropriate appearance and stable gender identity. The timing of treatment depends on a child's specific situation. Your medical team can explain the options available for your child and suggest a course of action.
For girls with ambiguous genitalia, the sex organs often 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 can provide a natural appearance and erectile functionality.
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
Not knowing the sex of your newborn immediately can turn a hoped-for celebration into a stressful crisis. Until the medical evaluation is complete, you may have to avoid thinking of the child as either a boy or a girl. You may choose to defer formally announcing the birth until the testing is complete and you've come up with a plan with your medical team. You'll want to give yourself enough time to learn and think about the issue before answering questions from family and friends.
Mental health providers can help you deal with this difficult and unexpected set of circumstances. In addition to ongoing counseling for your family, you may benefit from a support group, either in person or online.
Last Updated: 2010-01-29
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