Ambiguous genitalia

Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In ambiguous genitalia, a baby's genitals may not be well formed or the baby may have characteristics of both sexes. In a baby with ambiguous genitalia, the external sex organs may not match the internal sex organs.

Ambiguous genitalia isn't a disease. Instead, it is a sign of a condition that affects sexual development.

Ambiguous genitalia is usually obvious at or shortly after birth. Ambiguous genitalia can be very distressing for families. Your medical team will determine the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about the baby's gender.

Symptoms Causes Risk factors Complications

Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born.

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

  • An enlarged clitoris, which may resemble a small 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

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