Ambiguous genitalia
Disease Information
Overview
When a baby is born, "girl or boy?" is the question on the tip of everyone's tongues. Discovering that your newborn has ambiguous genitalia can be emotionally traumatizing and confusing for you and your family. Ambiguous genitalia are sexual organs that aren't well formed or aren't clearly male or female.
- An estimated 1 in 4,500 infants are born with ambiguous genitalia.
- It's important not to try to guess the baby's gender. Tests will most likely determine the cause of the problem and the sex of boy or girl. Results should come back in a few days, or at the most, one or two weeks.
- With few exceptions, babies with ambiguous genitalia are physically healthy.
- Ambiguous genitalia can signal a medical emergency if the condition is the result of a rare form of a genetic disorder called congenital adrenal hyperplasia.
How Boston Children's Hospital approaches ambiguous genitalia
At the Center for Congenital Anomalies of the Reproductive Tract, we understand that speculation about your baby's gender is exhausting and stressful. The Center offers many forms of support to you, from immediate testing to expert, long-term medical care. We will work with you to decide on the best approach to her treatment.
Children's is also home to the Gender Management Service (GeMS) Clinic, which treats the medical and psychosocial issues of infants, children, adolescents and young adults with disorders of sexual differentiation.
