Disorders of Sexual Differentiation
(Ambiguous Genitalia)

What Is This?

When some children are born, it is impossible by looking at their genitalia to determine what sex they are. This is an uncommon condition but one of the more challenging diagnostic problems that face pediatric urologists. In the past this was called “intersex,” but the conditions are now known as “disorders of sexual differentiation.” These children may be boys whose penis, scrotum and testes have not developed normally, and they look a little like girls. The opposite can occur in girls who have developed penis-and-scrotum-like structures and look somewhat like boys.

How Does It Occur?

All fetuses begin development in the uterus looking like females. If the fetus is male, the female-like structures will undergo changes that transform (differentiate) them into a penis and scrotum. If this transformation process is not completed in the male fetus, he may have genitalia with both male-and-female-appearing features. In girls this transformation is not supposed to occur. However, if partial or complete transformation does occur in girls, they will take on partial or complete appearance of male genitalia with a penis and scrotum. In some instances, transformation will be so abnormal that the infant will look like a normal infant of the opposite sex.

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How Is It Treated?

The diagnosis of the cause of the child with ambiguous genital development is very complex and best done by multidisciplinary teams of physicians who are experts in this field. The pediatric urologist is a key member of this team. The teams also include geneticists, endocrinologists, bioethicists and pediatricians.

Treatment is based on several factors. The first is the true genetic sex of the child (XX or XY). The second is the developmental changes that can be expected as the child grows. The third is the potential for the child to be fertile and have children. Finally, the ability to successfully reconstruct the genitalia toward the appropriate appearance is also an important factor.

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