Abstract

We report the case of a 24-year-old adult with ambiguous external genitalia, who had never been studied or treated, but who was labelled as a hermaphrodite in the country of origin. These cases are usually evaluated at birth, the most frequent diagnosis being congenital adrenal hyperplasia. We present a case of one of the least common of these disorders, 46XY partial gonadal dysgenesis.

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