Ambiguous Genitalia: Symptoms, Causes, Risk Factors, Treatment and More

Ambiguous Genitalia Overview

Abnormal genitals are a rare condition in which the baby’s genitals do not clearly identify a male or a female. In a baby with abnormal genitals, the genitals may not develop properly or the child may have characteristics of both sexes. The external genitalia may not be the same as the internal genital organs or genetics.

The vagina is not a disease, it is a disruption of sexual development. Often, abnormal genitals appear at birth or soon after birth, and it can be very stressful for families. Your medical team will look into the cause of abnormal genitals and provide information and advice that can help guide decisions about your child’s sexuality and any necessary treatment.

Ambiguous Genitalia Symptoms

Your medical team will likely be the first to detect abnormal genitals soon after the birth of your baby. In some cases, abnormal genitals may be suspected before birth (before childbirth). Symptoms can vary in severity, depending on the time of genital development the problem occurred and the cause of the disorder.

Female genetic offspring (with two X chromosomes) may be:

  • Enlarged clitoris, which may resemble a penis.
  • Closed labia, or labia that cover wrinkles and are like scrotum.
  • Lumps that sound like testicles in the labia minora.

Male genes (with one X chromosome and one Y) may be:

  • A condition in which the small tube that carries urine and semen (urethra) does not fully extend to the tip of the penis (hypospadias).
  • An unusually small penis with a urethra near the scrotum.
  • Absence of one or both testicles in what appears to be a scrotum.
  • The testicles and scrotum are empty and look like labia with or without micropenis.

Ambiguous Genitalia Causes

Unexplained genitals mainly occur when hormonal abnormalities during pregnancy disrupt or interfere with the developing sexual organs of the fetus.

How the genitals build up in the womb?

The sex of the baby is established in pregnancy, based on the sex chromosomes. The mother’s egg has an X chromosome, and the father’s sperm has an X or Y chromosome. The child who inherits the X chromosome from the father is a female gene (two X chromosomes). A child receiving a Y chromosome from a father is a male gene (one X chromosome and one Y).

The male and female sex organs come from the same source. Whether this tissue becomes male or female organs depends on the chromosomes and the presence or absence of male hormones.

  • In males, the Y chromosome area begins to form testicles, which produce male hormones. Male genitals grow in response to male hormones from the baby’s testicles.
  • In a child without a Y chromosome – without the effects of male hormones – the genitals grow like a female.

In some cases, chromosomal abnormalities may determine genetic complexity.

How Mysterious Genitals happen?

Disruption of sexual intercourse measures may result in discrepancies between the appearance of the external genitalia and the internal genital organs or genes (XX or XY).

  • A deficiency of male hormones in the fetus can cause an abnormal vagina, while exposure to male hormones during puberty results in an abnormal vagina.
  • Genetic mutations can also affect a child’s sexual development and cause abnormal genitals.
  • Chromosomal abnormalities, such as the non-existent sex chromosome or an additional one, can also cause abnormal genitals.
  • In some cases, the cause of abnormal genitals may not be determined.

Possible Causes for Genetic Women

Causes of abnormal vaginal discharge in a woman can include:

1. Congenital adrenal hyperplasia:

Some forms of this gene cause the adrenal glands to produce male hormones (androgens).

2. Prenatal exposure to male hormones:

Certain drugs that contain male hormones or that promote the production of male hormones in a pregnant woman can cause the growth of a woman’s genitals to become masculine. A growing baby may be exposed to a wide range of male hormones if the mother has a disease or condition that causes hormonal imbalance.

3. Abnormal growth of tissues:

Rarely, a tumor in the mother can produce male hormones.

Possible Causes for Genetic Male

Causes of vaginal genital herpes can include:

1. Deformed testicular growth:

This may be due to genetic defects or unknown causes.

2. Androgen Insensitivity Syndrome:

In this case, the growth of sexual tissue does not normally respond to the male hormones produced by the testicles.

3. Abnormalities with testicles or testosterone:

Various abnormalities can interfere with the function of the testicles. These may include structural problems with the testicles, problems with the production of the male hormone testosterone or problems with cell receptors that respond to testosterone.

4. 5-alpha reductase deficiency:

This feature of the enzyme inhibits the production of normal male hormones. Abnormal genitals can also be a feature of certain rare, complex syndromes that affect many organ systems.

Ambiguous Genitalia Risk factors

Family history also plays a role in the development of abnormal genitals, since many of the disorders of sexual development are caused by genetic abnormalities that can be inherited. Potential dangers of obscure genitals include family history:

  • Unexpected death is still early
  • Infertility, lack of menstruation or long facial hair in women
  • Abnormal genital warts
  • Abnormal physical growth during puberty
  • Congenital adrenal hyperplasia, a group of inherited genetic disorders that affect the adrenal glands

If your family has a history of these dangerous factors, consider seeking medical advice before trying to conceive. You may also benefit from genetic counseling.

Ambiguous Genitalia Complications

Unexplained genital problems may include:


Whether people with abnormal genitals can have children depends on a definitive diagnosis. For example, genetic women with congenital adrenal hyperplasia can often become pregnant if they choose.

Increased risk of certain cancers:

Other disorders of sexual development are associated with an increased risk of certain cancers.

Ambiguous Genitalia Diagnosis

Abnormal genitals are usually acquired at birth or shortly thereafter. Obstetricians and gynecologists may detect abnormalities in your newborn’s genitals.

Determining the cause:

If your baby is born with abnormal genitals, doctors will work to find the underlying cause. Reason helps guide treatment and decisions about your child’s sexuality. Your doctor will likely begin by asking questions about your family and medical history. You will have a physical examination to check your baby’s genitals.

Your medical team may recommend this test:

  • Blood tests to measure hormone levels
  • Blood tests to analyze chromosomes and determine gene sex (XX or XY) or single genetic disorders.
  • Ultrasound of pelvis and abdomen to examine testes, uterus or vagina
  • X-ray studies use comparative dye to help determine anatomy

In some cases, minor surgery may be required to collect a sample of your baby’s genital tissue.

Determining gender:

Using the information gathered in this test, your doctor may suggest the sex of your baby. The proposal will be based on cause, genetic predisposition, physical condition, future reproductive and sexual capacity, possible adult sexual orientation, and interviews with you.

In some cases, the family may make a decision within a few days of their birth. However, it is important for the family to wait until the test results are completed. Sometimes a gender assignment can be difficult and the long-term impact can be difficult to predict. Parents should be aware that as the child grows older, he or she may make a different decision regarding sex.

Ambiguous Genitalia Treatment

Once you and your doctor have decided on the sex of your baby, you may choose to start genital herpes. The goal of treatment is long-term psychological and social well-being, as well as to make sexual and reproductive function at the highest level. When to start treatment depends on your child’s specific condition.

Unexplained genitals are uncommon and complex, and may require a specialist team. The team may include a pediatrician, pediatrician, pediatric urologist, general pediatric surgeon, endocrinologist, geneticist, and psychiatrist or social worker.


Hormone medications can help correct or compensate for hormonal imbalances. For example, in a genetic woman with a slightly enlarged clitoris caused by a small to moderate case of congenital adrenal hyperplasia, appropriate levels of hormones may reduce tissue size. Some children may take hormones during puberty.


In children with abnormal genitals, surgery may be used:

  • Maintain normal sexual activity
  • Create genitals that appear to be very common

The duration of surgery will depend on the exact condition of your baby. Some doctors prefer to postpone surgery for cosmetic reasons only until a person with abnormal genitals is mature enough to participate in a decision regarding sex distribution.

In girls with abnormal genitals, the genitals may function normally despite an unexplained external appearance. If a girl’s genitals are hidden under her skin, childhood surgery can help with later sexual function. For boys, surgery to reconstruct an imperfect penis may make the appearance normal and cause erectile dysfunction. Surgery to regenerate the testicles in the scrotum may be necessary.

The results of the surgery are generally satisfactory, but further surgery may be needed later. Risks include the result of a disappointing cosmetic effect or sexual dysfunction, such as the paralysis of the orgasm.

Ambiguous Genitalia Ongoing care

Children with abnormal genitals need ongoing medical attention and monitoring of problems, such as cancer screening, when they are older.

Dealing with support

If your baby is found to have abnormal genitals, you may be worried about your child’s future. Mental health professionals can help you cope with this difficult and unexpected challenge. Ask your child’s doctor to refer you to a mental health professional who is experienced in helping people in your situation.

In addition to ongoing counseling for your family and your child, you may also benefit from a support group, either personally or online. Your child can benefit from the continued counseling of mental health professionals and participation in support groups as they grow up.

Not knowing the sex of your newborn baby can turn a trusted celebration into a stressful situation. Your medical team will provide you with updates and information as soon as possible to help resolve any questions about your child’s health.

Consider delaying the official birth announcement until the test is completed and make a plan with advice from your medical team. Take time to read and think about the story before answering difficult questions from family and friends.

Preparing for your appointment

If your baby is born with abnormal genitals, you may be referred to a medical center that has doctors who know about the condition. Here are some tips to help you prepare for your period and learn what to expect from your doctor.

What you can do?

Prior to your appointment:

  • Ask if there is anything you need to do in advance to prepare your baby for tests and procedures.
  • Discuss family history with your relatives and bring important personal information, including family history of genetic diseases or conditions, such as genital herpes.
  • Consider traveling with a family member or friend. Sometimes it can be difficult to remember all the details provided during the appointment. Your traveling companion may remember something that you missed or missed.
  • Make a list of questions to ask your doctor.

Questions to ask your doctor may include:

  • What caused my baby’s genitals to swell?
  • Which genetic test was completed?
  • What are some tests my child may need?
  • What is the best course to follow?
  • What are some of the first methods you suggest?
  • Is there an alternative to prescription?
  • Are there rules my child must follow?
  • Should my child see other professionals?
  • What methods are available to counsel and support our families?
  • Are there any brochures or other printed material that I may have? Which websites do you recommend?

Do not hesitate to ask further questions at the time of your appointment.

What to expect from your doctor?

Your doctor might ask you a few questions, such as:

  • Does your family have a history of mysterious genitals?
  • Are there any illnesses or conditions that often run in your family?
  • Have you ever had a miscarriage?
  • Have you ever had a baby that died in infancy?

Be prepared to answer questions to allow for more time to close the points you want to make.