Norton Children’s Gynecology, affiliated with the UofL School of Medicine, is the only practice in Kentucky, Louisville and Southern Indiana dedicated to pediatric gynecological care. Our board-certified physicians are trained to treat ambiguous genitalia with the sensitivity that children, teens and parents need.
Ambiguous genitalia is a rare condition in which a baby’s genitals don’t have the typical appearance of either a boy or a girl. The genitals may be incompletely developed, or a baby may have characteristics of both sexes.
A baby’s genetic sex is determined at conception based on the chromosome match between the father’s sperm and the mother’s egg.
A diagnosis of ambiguous genitalia may be stressful for your family. We will provide counseling that can help guide decisions about your baby’s gender and necessary treatment.
Our team of specialists will look for an underlying cause of your child’s condition. This will help guide treatment and decisions about your baby’s gender.
We’ll examine your baby’s external anatomy, internal anatomy, hormonal development and urinary functioning. Your child may receive a blood or urine test to help us understand your child’s hormones. An ultrasound may be performed to examine the internal reproductive organs. Other tests, such as an X-ray or endoscopy, may be necessary.
When the diagnosis is finalized, genital reconstruction may be planned and performed based on your child’s unique condition. The goal of treatment is long-term psychological and social well-being, as well as to enable sexual function and fertility to the greatest extent possible.
A variety of genetic, hormonal and environmental factors may lead to ambiguous genitalia.
Ambiguous genitalia can develop if the process that causes fetal tissue to become “male” or “female” is disrupted.
Possible causes of ambiguous genitalia in genetic females include:
Possible causes of ambiguous genitalia in genetic males include:
Ambiguous genitalia also can be a feature of certain rare, complex syndromes.
The severity of ambiguous genitalia can vary greatly. In rare cases, a baby’s physical appearance may develop as the opposite of the genetic sex.
Babies who are genetically female (with two X chromosomes) may have:
Babies who are genetically male (with one X and one Y chromosome) may have:
Occasionally, prenatal ultrasound may reveal ambiguous genitalia.