46, XX true hermaphrodite

This code describes a rare congenital condition where an individual possesses both ovarian and testicular tissue, typically presenting with ambiguous external genitalia. The karyotype is 46, XX, indicating the presence of two X chromosomes, which is unusual for an individual with testicular tissue. This condition is a form of disorder of sex development (DSD).

Assign this code when documentation clearly indicates a diagnosis of 46, XX true hermaphroditism, confirmed by genetic testing (karyotype) and histological evidence of both ovarian and testicular tissue. This diagnosis is often made during infancy or childhood due to ambiguous genitalia, or later in life if reproductive or endocrine issues arise.

• Ensure documentation explicitly states "true hermaphrodite" and the 46, XX karyotype.
• Do not confuse with other disorders of sex development (DSDs) like mixed gonadal dysgenesis or ovotesticular DSDs with different karyotypes.
• Consider sequencing this code as a primary diagnosis when it is the focus of the encounter, especially for diagnostic workup or management of the DSD.