Differenzialdiagnostische Überlegungen beim Hodenhochstand

Cryptorchidism is the most frequent malformation in boys occurring in up to 3% of male newborns. Recent investigations demonstrated a relatively low rate of spontaneous testicular descent of 7% at the age of 1 year. Untreated cryptorchidism is associated with a high risk of male infertility. Moreover, the risk of developing testicular cancer is significantly elevated. In rare cases, cryptorchidism can be a symptom of an underlying hormonal or genetic disease. Therefore, extended diagnostic procedures are indicated in all subjects in whom the testes are not palpable, when associated complex malformations are present, and in cases with genital abnormalities. Diagnostic procedures include determination of gonadal hormones, imaging procedures, and sometimes surgical exploration, as well as molecular genetic analysis of the underlying defect. An interdisciplinary approach is warranted for these specific cases involving a pediatric endocrinologist, a clinical geneticist as well as a pediatric surgeon.