This usually means the name of a cause of a DSD (for instance, “congenital adrenal hyperplasia” or “complete androgen insensitivity syndrome”). Doctors decide on a diagnosis by considering the signs and symptoms, the family history, and the results of various tests. In many cases, it is not possible to arrive at a definite cause. In that case, doctors may use a descriptive word, like “ambiguous genitalia” for the diagnosis.
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