[Clinical aspects of gonadal dysgenesis]

Gonadal dysgenesis are classified according to the aspect of external genitalia. The group with female genitalia includes Turner's syndrome, and "pure" dysgenesis; the group with male genitalia involves Klinefelter's syndrome, XX males and may be anorchia; the group with ambiguous genitalia includes "mixed" gonadal dysgenesis, true hermaphroditism and Leydig-cell agenesis. An algorythmic approach to patients with ambiguous external genitalia is presented in order to distinguish between gonadal dysgenesis and male or female pseudohermaphroditism.