Ambiguous Genitalia

What is ambiguous genitalia?

Ambiguous genitalia are sexual organs that aren't well formed or aren't clearly male or female. At conception, a fetus's gender is already determined based on the 23rd pair chromosome it inherited from the parents. Females have two X chromosomes and males have an X and a Y chromosome. Even though the gender is set, the fetal tissue that will eventually become the female ovaries or male testes (gonads) has not yet begun to take its form. If the hormonal process that causes that tissue to become male or female is disrupted over the following weeks, ambiguous genitalia can develop.

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 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 we care for ambiguous genitalia

Boston Children's Hospital is 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. The Clinic is designed to address psychosocial issues that may arise from ambiguous genitalia. Our team includes urologists, endocrinologists and geneticists, as well as a research psychologist, social workers and nurses who run support groups.