F1000 Commentary: Treatment of adults with complications from previous hypospadias surgery / What are “ambiguous genitalia”?

“Ambiguous genitalia” is the medical term for when a child is born with genitals that are neither typical for a male nor typical for a female, but are somewhat in-between. For example, the phallus may have developed to be something in-between a typical penis and a typical clitoris. (The clitoris and the penis are developmental “homologues,” which means they develop from the same set of fetal cells. This is why a person may have a phallus that develops half-way between a penis and a clitoris – because it is like going down a middle path of sex development.) In cases of ambiguous genitalia, a child may be born with structures that look something in between labia majora and a scrotum. (This is because the labia majora and scrotum are homologues.)

Sometimes a child can be born apparently missing certain elements of the genitals. For example, in a case of congenital aphalia, a child is born without a phallus, even though he may have a scrotum with testes. In some other types of DSD, a girl may be born apparently without a vaginal opening.

Sometimes a child can be born with what appears to be elements of both sexes. For example, a child may be born with labia majora that seem to contain gonads, the way a scrotum typically contains testes. (In such a case, the gonads may be herniated ovaries, or they may be testes or ovotestes.) Or a child may be born with a large clitoris that looks something like a penis, along with labia majora and a vaginal opening.

Many different DSD can result in the development of ambiguous genitalia.

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