Ambiguous Genitalia

What is Ambiguous Genitalia?

Ambiguous genitalia is not a disease; rather, it is a condition that causes the external genitals of an infant to not be clearly female or male. Instead, while the genitals might be formed well, they may exhibit characteristics of both genders. Also, the internal sex organs might not match the external sex organs.

This rare condition will affect sexual development, and it will become obvious when a baby is born, or shortly afterward. However, this condition may even be diagnosed before a baby is born.

What are the Symptoms of Ambiguous Genitalia?

A baby that is born genetically male might have a penis that is abnormally small, and the urethral opening will be located closer to the baby’s scrotum. One or both of the baby’s testicles might be absent in the scrotum, or there may be undescended testicles along with a scrotum that is empty and looks like a labia. Also, the baby might have a condition in which the urethra does not extend fully to the end of the penis.

A baby that is genetically female might exhibit a clitoris that is enlarged and might resemble a very small penis. She may also have a labia that has folds resembling a scrotum, or she might have closed labia or lumps that will feel as those they are testes within a fused labia.

Symptoms include

  • Testes-like lumps in labia (female)
  • Enlarged clitoris (female)
  • Folded or closed labia (female)
  • Abnormally small penis (male)
  • Absent testicles (male)

Ambiguous Genitalia Causes

There are a wide range of potential causes of ambiguous genitalia. Firstly, it could be due to hermaphroditism, a rare condition where both ovarian and testicular tissues are present, resulting in both male and female genitals. Alternatively, it could be pseudohermaphroditism that is the cause, when the genitalia is clearly either male or female but with some physical characteristics of the opposite sex. MGD (mixed gonadal dysgenesis) is a similar condition which causes an individual to have gonad and testis structures found in males, as well as the vagina, uterus and fallopian tubes found in women.

In genetic females, ambiguous genitalia can be a sign of congenital adrenal hyperplasia (CAH). This is a life-threatening condition which affects the production of cortisol and aldosterone, two hormones which are vital for normal bodily functions. Similarly, chromosomal abnormalities such as Klinefelter syndrome and Turner syndrome may result in ambiguous genitalia.

Some medicines such as androgenic steroids can cause genetic females to appear like males if consumed by the mother during pregnancy. It is also possible for ambiguous genitalia to occur in genetic females due to the mother having a tumor during pregnancy, since tumors can produce male hormones.

How is Ambiguous Genitalia Treated?

Surgery could be done to create natural looking genitalia, or to preserve healthy sexual function and hormone medications could be administered in order to compensate for or even correct hormonal imbalances.

Treatment includes

  • Surgery
  • Preservation
  • Hormonal medication

Ambiguous Genitalia Prevention

There isn’t a definitive way to prevent ambiguous genitalia, since it is not always clear what causes it. However, some couples who are trying to conceive might be aware that their baby could be at an increased risk due to inherited disorders, such as congenital adrenal hyperplasia. In these instances, doctors may be able to advise on preventative measures.

For example, it is known that treating expecting mothers with dexamethsone, a drug usually used to treat inflammatory conditions, can help to reduce the risk of ambiguous genitalia in babies who have been prenatally diagnosed with CAH.

It is therefore important to seek medical advice before trying to conceive a baby if you are aware of CAH in your family medical history.

Be aware of other risk factors such as:

  • Unexplained early infant deaths
  • Genital abnormalities
  • Abnormal physical development throughout puberty

Women should avoid taking androgenic steroids during pregnancy, and if they are diagnosed with a tumor during pregnancy they should consult a physician on the potential effects on the baby.

Last Reviewed:
September 12, 2016
Last Updated:
November 07, 2017