Overview
Ambiguous genitalia is a rare condition in which an infant’s external genitals don’t appear to be clearly either male or female. In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. The external sex organs may not match the internal sex organs or genetic sex.
Ambiguous genitalia isn’t a disease, it’s a disorder of sex development. Usually, ambiguous genitalia is obvious at or shortly after birth, and it can be very distressing for families. Our medical team will look for the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about your baby’s gender and any necessary treatment.
Symptoms
Our medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born. Occasionally, ambiguous genitalia may be suspected before birth (prenatally). Characteristics can vary in severity, depending on when during genital development the problem occurred and the cause of the disorder.
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 micro penis
Risk factors
Family history may play a role in the development of ambiguous genitalia, because many disorders of sex development result from genetic abnormalities that can be inherited. Possible risk factors for ambiguous genitalia include a family history of:
- Unexplained deaths in early infancy
- Infertility, absent menstrual periods or excess facial hair in females
- Genital abnormalities
- Abnormal physical development during puberty
- Congenital adrenal hyperplasia, a group of inherited genetic disorders that affect the adrenal glands
