Ambiguous Genitalia Definition, Reason, Symptom, Treatment, Prevention

Ambiguous Genitalia Definition, Reason, Symptom, Treatment, Prevention


Ambiguous genitalia is a rare condition in which the genitalia of the baby cannot be clearly defined. In infants with ambiguous genitalia, the genitals may not be fully developed or may have characteristics of both sexes. There may also be an incompatibility between the external sexual organs and the internal sexual organs or genetic sexual status.

Ambiguous genitalia is not a disease, but a sexual development disorder. Generally, ambiguous genitalia can be present at birth and can cause distress to family members.

The medical team who handles this case will investigate the cause of ambiguous genitalia and provide information. Furthermore, they will provide counseling that can help guide decision-making regarding the sex of the baby and the treatment needed.


Ambiguous genitalia can mainly occur when hormonal imbalances during pregnancy interfere with the development of the sexual organs of the fetus. Disruption of the sex-determining stages of the fetus may result in a mismatch between the appearance of the external genitalia in the infant and the internal sexual organs or genetic sexual status (XX or XY).

Some of the suspected causes of this condition include:

  • Lack of male hormones in a fetus with a male genetic structure can cause ambiguous genitalia. Meanwhile, exposure to male hormones during development can cause ambiguous genitalia in fetuses with a female genetic structure.
  • Mutations in certain genes can affect the sexual development of the fetus and cause ambiguous genitalia.
  • Chromosomal abnormalities, such as the absence of one sex chromosome or the presence of one extra sex chromosome, can also cause ambiguous genitalia.
  • In some cases, the cause of ambiguous genitalia has not been determined.

Causes of ambiguous genitalia in fetuses that have a female genetic structure can include:

  • Congenital adrenal hyperplasia. Some types of this genetic condition can cause the adrenal glands to produce excess male hormones (androgens).
  • Exposure to male hormones during pregnancy. Some medications can contain male hormones or stimulate the production of male hormones in pregnant women, which can cause the female fetus’s genitalia to become more masculine. The developing fetus may also be exposed to excess male hormones if the mother has a disease or condition that causes a hormonal imbalance.
  • In a minority of cases, tumors in the mother can produce male hormones.

Causes of ambiguous genitalia in a fetus that has a male genetic structure can be:

  • Impaired testicular development. It can occur as a result of a genetic abnormality or an unknown cause.
  • Androgen insensitivity syndrome. In this condition, the developing genital tissue does not respond normally to the hormones produced by the testes.
  • Abnormalities in the testes or testosterone. A range of disorders can affect the activity of the testes. These can include structural abnormalities of the testes, problems with the production of the male hormone testosterone, or problems with the cellular receptors that respond to testosterone.

Family history can play a role in the development of ambiguous genitalia, because many disorders of sexual development can occur as a result of inherited genetic abnormalities.

Some possible risk factors for ambiguous genitalia include a family history of the following health conditions:

  • Death in infancy of unknown cause
  • Infertility, not menstruating, or excessive facial hair in women
  • Genital abnormalities
  • Physical developmental abnormalities during puberty
  • Congenital adrenal hyperplasia, which is a group of inherited genetic disorders that affect the adrenal glands


The medical team who treats patients with ambiguous genitalia can recognize this condition for the first time shortly after the baby is born. Sometimes, ambiguous genitalia can be suspected before birth when certain investigations are performed.

Characteristics of this condition can have varying degrees of severity, depending on what stage during genital development the problem began and the cause of the disorder.

Babies who have a female genetic structure (with two X chromosomes) may have the following signs and symptoms:

  • Enlarged clitoris, which can resemble a penis
  • Closed labia, or labia with folds and resembling a scrotum
  • Lumps that are palpable like testes on the closed labia

Babies who have a male genetic structure (with one X and one Y chromosome) may have the following signs and symptoms:

  • A condition in which the urethra, the thin tube that carries urine and semen, does not form to the tip of the penis (hypospadias)
  • Very small penis size with the tip of the urethra close to the scrotum
  • Absence of one or both testes in a structure resembling the scrotum
  • Scrotum without testes with a labia-like shape with or without a micropenis, or a very small penis


Ambiguous genitalia is generally diagnosed at birth or shortly thereafter. The team of doctors and nurses who assist in childbirth can observe signs of ambiguous genitalia in newborns.

In babies born with ambiguous genitalia, doctors can do several things to determine the underlying cause. This can help to guide management and decision-making regarding the sex of the baby.

Your doctor will usually start by asking questions about your medical history, family history, and history of pregnancy and childbirth. Then, a physical examination will be carried out to evaluate the genitalia of the baby.

Some possible investigations that can be recommended are:

  • Blood tests to measure hormone levels
  • Blood tests to analyze chromosomes and determine sexual status genetically (XX or XY) or check for single gene disorders
  • Ultrasound examination of the pelvis and abdomen to evaluate for the presence of undescended testes, the presence of a uterus, or the presence of a vagina
  • X-ray examination using contrast dye to help clarify the anatomical structure of the reproductive tract in infants

According to the information gathered from the series of examinations, the doctor can deduce the sex of the baby. This can be related to causes, genetic sexual status, anatomy of the reproductive tract, reproductive ability and future sexual function, alleged gender identity, as well as discussions with the parents of the baby.

Sex determination in some cases can be complex and long-term impacts can be difficult to predict.


After reaching agreement regarding the sex of the baby, the treatment of ambiguous genitalia can be determined. The goal of treatment is the psychological and social well-being of the baby, as well as to support as much as possible sexual function and fertility in the future. The timing of starting treatment depends on the specific situation of the baby.

Ambiguous genitalia is a rare and complex condition and can require a team of multiple experts. The team involved may include pediatricians, neonatologists, pediatric urologists, pediatric surgeons, endocrinologists, geneticists, psychologists, and social workers.

Hormonal treatment can help correct or compensate for any hormonal imbalance. For example, in infants with a female genetic structure with an enlarged clitoris caused by mild to moderate congenital adrenal hyperplasia, administration of appropriate hormone levels can help reduce the size of the tissue. Some other patients may be prescribed hormone therapy at the time of puberty.

In children with ambiguous genitalia, surgery may be performed to:

  • Protects normal sexual function
  • Changes in the shape of the genitalia to be more typical

The timing of surgery will depend on the specific situation of the child. Some clinicians may postpone surgery aimed at cosmetic repair until the individual with ambiguous genitalia has reached maturity to make decisions regarding sex determination.

In women with ambiguous genitalia, the sexual organs can function normally regardless of the external appearance of the genitalia. For example, in women with a vagina hidden under the skin, surgery in childhood may help sexual function in the future.

In men, surgery to reconstruct an imperfect penis can improve the appearance of the penis and allow erection to occur. Surgery to reposition the testes into the scrotum may also be performed if needed.

The results of surgery are generally satisfactory, but repeat surgery may be required with age in some cases. Some of the risks associated with this can be a cosmetic appearance that is less than expected, sexual dysfunction, or difficulty achieving orgasm in the future.


Since ambiguous genitalia is a genetic condition that is present at birth, there is no fully effective method of preventing this condition from occurring.

Leave a Comment