What Is Ambiguous Genitalia?

Medically Reviewed by Poonam Sachdev on November 11, 2022
5 min read

Ambiguous genitalia, also called uncertain genitalia, atypical genitalia, ambiguous genitalia syndrome, or differences of sex development (DSD), is a condition present at birth. So, what is ambiguous genitalia?

This uncommon condition results in genitals that aren’t obviously male or female. When a child is born with ambiguous genitalia, they might have underdeveloped sex organs or have both male and female characteristics. The outward appearance of the genitals won’t necessarily match the child’s genetic sex or internal sex organs. This condition is a sex development disorder, not a disease, that is fairly apparent at birth or soon after.

If the sex of a child isn’t obvious, it can be tested in order to give parents insight into how to care for their child. Ambiguous genitalia happens to 1 in every 1,000 to 4,500 babies.

The biggest sign that a child has ambiguous genitalia is that their external sex organs don’t look like a standard penis or vagina. Other ambiguous genitalia symptoms include:

  • Imbalanced hormones
  • Early, late, or absent menstruation
  • Lack of a urethral opening at the end of the penis, or hypospadias

Atypical genitalia could look different in every case, depending on which sex chromosomes have been affected. In females, uncertain genitalia could present itself as:

  • Larger than normal clitoris that resembles a tiny penis
  • A urethral opening in an abnormal spot
  • Fused labia or labia that resemble a scrotum
  • A pocket of tissue inside the labia that could be mistaken for testicles and a scrotum

In males, uncertain genitalia could present itself as:

  • A penis that never forms, is tiny, or resembles a large clitoris
  • A urethral opening at the base of the penis, not at the tip
  • A little, open scrotum that could be mistaken for labia
  • Testicles that don’t descend

Depending on when genital development gets interrupted and what caused it, symptoms can be more or less severe.

It’s possible to detect this condition before a child has been born, but it won’t be confirmed until a healthcare provider is able to examine the child in person. Your child’s health care provider will want to know about your baby’s familial medical history, if possible. Depending on the severity of the condition, you may receive a quick diagnosis or you might need to wait for test results like:

  • Blood tests to assess chromosomes and hormone levels
  • Imaging tests like X-rays, ultrasounds, or MRI scans
  • Laparoscopies or biopsies to check out tissue taken from the sex organs

Ambiguous genitalia causes generally revolve around interrupted development of developing sex organs. For example:

  • Insufficient male hormones for a fetus that's genetically male or the presence of male hormones for a fetus that is genetically female
  • Specific genes that have mutated and influenced sex development
  • Abnormalities in a fetus’ chromosomes, like an absent or extra chromosome

It’s possible that a child’s family history affects the development of their genitalia. A large number of sex development disorders happen due to genetic abnormalities that are inherited. If a fetus has a family history of any of the following, they’re at a higher risk of atypical genitalia:

  • Death during infancy without a cause
  • Difficulty getting pregnant, lack of menstruation, and extra facial hair for females
  • Abnormal genitals
  • Irregular physical maturation during puberty
  • Inherited genetic disorders that mess up the adrenal glands, also called congenital adrenal hyperplasia

If you want to have a baby but have a family history that includes these conditions, speak to a specialist or seek genetic counseling to find out what your best course of action is.

Someone with ambiguous genitalia might experience difficulty getting pregnant and an increased chance of getting certain kinds of cancer in addition to their primary condition.

Ambiguous genitalia treatment starts by determining the cause of the condition. After they determine the cause, your child’s health care provider will help you figure out a treatment plan and a sex assignment. You might need to meet with specialists like:

  • A neonatologist
  • A geneticist
  • An endocrinologist
  • A surgeon
  • A Urologist
  • A psychologist

The team of health care providers will support you as you decide the best way to approach your child’s condition, sexual function, gender identity, and chances for fertility in the long term. You might be looking at hormone replacement therapy or reconstructive surgery. You might need to consider surgery when your child is still an infant if it’s medically important (like the absence of a urethral opening). If you’re concerned about cosmetic appearance, you may decide to wait on surgery until your child can decide for themselves.

Treatment for ambiguous genitalia has many layers. In addition to the factors mentioned above, you should keep your child’s emotional health at the top of your priority list.

You might be wondering what the long-term implications of being born with ambiguous genitalia are. Will your child be able to have children of their own? How do you define your child’s gender? Will this condition lead to difficulty with gender identity or sexual preferences? While the answers to these questions aren’t simple, you can certainly find answers and support from health care providers and others who live with this condition. Consider the following:

  • Those with atypical genitalia may still be able to have children depending on the cause of their condition. For example, females who have congenital adrenal hyperplasia could get pregnant even after hormonal treatment.
  • The presence or absence of certain chromosomes doesn’t necessarily assign gender. You should take into consideration what your child’s future would look like if they were male vs. what it would look like if they were female.
  • It’s hard to determine sexual expectations for children born with ambiguous genitalia. In addition to this condition, the brain also affects sexuality. This aspect of atypical genitalia is hard to predict.

As your child grows up, be sensitive to the psychological, social, and physical effects that their condition may have. Rely on well-experienced healthcare providers to decide what’s best for your child.