Ambiguous genitalia is a condition in which an infant’s genitals do not appear male or female. The internal sex organs may be completely normal and fully formed, establishing the genetic gender of the child, but the external genitals may appear indeterminate. Outer tissue may not be easily identifiable as either a scrotum or labia and the clitoris or penis may be difficult to clearly identify.

Some people inaccurately use the term hermaphrodite to refer to individuals with ambiguous genitalia. However, true hermaphrodites (people with the tissue for both male and female sex organs) are extremely rare and only a small percentage of people with ambiguous genitalia are true hermaphrodites. More commonly, these people have the genes and internal sex organs of one gender. The external genitalia for that gender have not developed properly due to a variety of causes. People with ambiguous genitalia are sometimes referred to as having an intersex condition, but sometimes this intersex condition will not become apparent until puberty.

The development of genitalia occurs early in pregnancy, between the seventh and 14^th weeks. The genes received from each parent determine whether the fetus will develop the genitals of a typical boy or a girl. Abnormalities in the genes (the female XX or the male XY) or deficiencies in hormones and enzymes may affect this process and result in the development of abnormal genitalia.

The appearance of ambiguity at birth can be devastating for parents, who expect to know their child’s gender immediately. Diagnostic tests can determine the child’s genetic gender and usually the cause of the ambiguous genitalia. These include blood tests and urine tests to determine genetic markers and hormone levels. X-rays and ultrasounds can be used to view the internal organs. This information may be used to determine the diagnosis as well as aid in treatment of the condition.

For many years, children with ambiguous genitalia were assigned to one gender (usually female) and had surgery in infancy or childhood to make the genitals appear like those of the assigned gender. This early surgery usually removes tissue that cannot be replaced later on. As these children develop, hormones can be given to help them develop other secondary sex characteristics. However, these individuals frequently remain infertile because the physical changes that can be obtained with surgery and/or hormones usually cannot produce physiological changes. Recently, some studies have shown that the assigned gender can affect sexual function or sexual identity. In some cases, the individual does not always agree with the perception of his or her gender. Some physicians now advocate postponing gender assignment and surgery until the child is older and can participate in the decision.