Overview
Ambiguous genitalia is a sexual development disorder in which an infant’s external genitals do not appear recognizably male or female, possessing characteristics of both sexes.
The genitals may be underdeveloped and do not match the internal sex organs or genetic sex of the infant.
Ambiguous genitalia is apparent shortly after birth and is usually caused by multiple disorders. A lack of production or action of male hormones due to gene changes (mutations) during fetal sexual development is an example of multiple causes. Complications can include infertility and an increased risk of developing certain testicular cancers.
Symptoms and Diagnosis
Symptoms of ambiguous genitalia in female infants include:
- An enlarged clitoris
- Closed labia that may resemble a scrotum
- Lumps that resemble testes in the fused labia
Symptoms of ambiguous genitalia in male infants include:
- The tube that carries urine and semen (urethra) doesn't fully extend to the tip of the penis (hypospadias)
- An abnormally small penis (micropenis)
- The absence of one or both testes
- Testicles that are undescended and a scrotum that appears to be empty
If an infant is born with ambiguous genitalia, doctors will perform diagnostic tests to determine the underlying cause and will recommend treatments accordingly.
The following tests may be performed:
Blood tests
These tests measure hormone levels and analyze chromosomes to determine the genetic sex of the infant.
An ultrasound of the pelvis and abdomen
These can detect undescended testes, uterus or vaginal tissue.
X-rays with contrast dye
These can determine the infant's pelvic anatomy.
Treatment
Treatment depends on the diagnosis of the underlying problem. It might involve hormone replacement, surgical intervention, psychotherapy, or other measures.
