F1000 Commentary: Treatment of adults with complications from previous hypospadias surgery / Does everyone labeled as having a DSD have a more specific medical diagnosis?

Sometimes a person with a DSD will receive a specific diagnosis that refers to the etiology of their condition. (“Etiology” means the cause of something.) So, for example, a woman might find out she has a DSD and then specifically learn that her particular DSD is called “Complete Androgen Insensitivity Syndrome” (CAIS). A boy given a diagnosis of DSD might find out that his particular DSD is called “Partial Androgen Insensitivity Syndrome” (PAIS).

But some children and adults will have developed atypical sex for reasons that are not clear to their doctors, even after many tests. So some people with a DSD will not receive a more precise diagnosis that refers to their specific etiologies, even after all medical tests have been completed. This happens more often than most people would expect. It happens because human sex development is very complicated, involving many factors, and we do not understand it all yet.

Posted in: Terminology and Frequency

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