Definition

What is ambiguous genitalia?

Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl.

The genetic sex of a child is determined at conception. The mother’s egg cell contains an X chromosome, while the father’s sperm cell contains either an X or a Y chromosome. These X and Y chromosomes determine the child’s genetic sex.

Normally, an infant inherits 1 pair of sex chromosomes, 1 X from the mother and 1 X or one Y from the father. The father “determines” the genetic sex of the child. A baby who inherits the X chromosome from the father is a genetic female and has 2 X chromosomes. A baby who inherits the Y chromosome from the father is a genetic male and has 1 X and 1 Y chromosome.

The male and female reproductive organs and genitals both come from the same tissue in the fetus. Ambiguous genitalia can develop if the process that causes this fetal tissue to become “male” or “female” is disrupted. This makes it hard to easily identify the infant as male or female. The extent of the ambiguity varies. Very rarely, the physical appearance may be fully developed as the opposite of the genetic sex. For example, a genetic male may have developed the appearance of a normal female.

How common is ambiguous genitalia?

Ambiguous genitalia is a rare condition. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of ambiguous genitalia?

Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born. Occasionally, ambiguous genitalia is diagnosed 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:

  • An enlarged clitoris, which may resemble a small penis
  • Closed labia, or labia that include folds and resemble a scrotum
  • Lumps that feel like testes in the fused labia

Babies who are genetically male (with one X and one Y chromosome) may have:

  • A condition in which the narrow tube that carries urine and semen (urethra) doesn’t fully extend to the tip of the penis (hypospadias)
  • An abnormally small penis with the urethral opening closer to the scrotum
  • The absence of one or both testicles in what appears to be the scrotum
  • Undescended testicles and an empty scrotum that has the appearance of a labia with or without a micropenis

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

Contact your health care provider if you are concerned about the appearance of your child’s external genitalia, or your baby:

  • Takes more than 2 weeks to regain his or her birth weight
  • Is vomiting
  • Looks dehydrated (dry inside of mouth, no tears when crying, less than 4 wet diapers per 24 hours, eyes look sunken in)
  • Has a decreased appetite
  • Has blue spells (short periods when a reduced amount of blood flows into the lungs)
  • Has trouble breathing

These can all be signs of congenital adrenal hyperplasia.

Ambiguous genitalia may be discovered during the first well-baby exam.

Causes

What causes ambiguous genitalia?

Causes for ambiguous genitalia includes:

  • The genitalia are of one sex, but some physical characteristics of the other sex are present.
  • True hermaphroditism. This is a very rare condition, in which tissue from both the ovaries and testicles is present. The child may have parts of both male and female genitals.
  • Mixed gonadal dysgenesis (MGD). This is an intersex condition, in which there are some male structures (gonad, testis), as well as a uterus, vagina, and fallopian tubes.
  • Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes the genetic female to appear male. Many states test for this potentially life-threatening condition during newborn screening exams.
  • Chromosomal abnormalities, including Klinefelter syndrome (XXY) and Turner syndrome (XO).
  • If the mother takes certain medicines (such as androgenic steroids), a genetic female may look more male.
  • Lack of production of certain hormones can cause the embryo to develop with a female body type, regardless of genetic sex.
  • Lack of testosterone cellular receptors. Even if the body makes the hormones needed to develop into a physical male, the body cannot respond to those hormones. This produces a female body type, even if the genetic sex is male.

Risk factors

What increases my risk for ambiguous genitalia?

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:

  • Unexplained deaths in early infancy
  • Infertility, absent menstrual periods or excess facial hair in females
  • Genital abnormalities
  • Abnormal physical development during puberty
  • Congenital adrenal hyperplasia

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.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is ambiguous genitalia diagnosed?

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.

How is ambiguous genitalia treated?

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage ambiguous genitalia?

The following lifestyles and home remedies might help you cope with ambiguous genitalia:

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.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: December 27, 2017 | Last Modified: December 27, 2017

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