Ambiguous genitalia

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.

Symptoms

Babies who are genetically female (with two X chromosomes) may have:

An enlarged clitoris, which may resemble a 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.

Causes

• Impaired testicle development: This may be due to genetic abnormalities or unknown causes.
• Androgen insensitivity syndrome: In this condition, developing genital tissues don't respond normally to male hormones made by the testes.
• Abnormalities with testes or testosterone: Various abnormalities can interfere with the testes' activity. This may include structural problems with the testes, problems with production of the male hormone testosterone or problems with cellular receptors that respond to testosterone.
• 5a-reductase deficiency: This enzyme defect impairs normal male hormone production.

FAQ

How is ambiguous genitalia diagnosed?
Usually the disorder can be diagnosed at birth by looking at the external features of the sexual organs. Certain hormonal tests and imaging tests(ultrasound) is also done to confirm the diagnosis.

Who are more prone to ambiguous genitalia?
Family history is an important risk factor that should be considered. This disorder is caused due to genetic abnormalities which can be passed on from the family members. Hence if a person’s family has any genetic abnormalities or hormone problems, they are more prone to get this.

What is ambiguous genitalia?
Ambiguous genitalia is a disorder where the gender of the person cannot be determined due to inadequate development of the sexual organs or presence of both the sexual organs. The baby cannot be distinguished as a male or female.

What are the long term complications of ambiguous genitalia?
The long term complications include infertility(unable to have a baby), and an increased risk so some type of cancers.

Can ambiguous genitalia be fixed?
The treatment depends on the type of disorder and is usually fixed by doing a surgery which will correct the deformed organs.

What is the long term outlook of ambiguous genitalia?
People usually require hormonal therapy throughout their life to maintain their identity and gender which they choose. Most people live a healthy life by adopting the correct treatment(medical,surgical or hormonal).