Combination of hypospadias and maldescended testis as cardinal symptoms ingonosomal chromosome aberrations

Intersexual genitals or distinct hypospadias in combination with maldescend ed testis can be caused by endocrinological as well as chromosomal abnormal ities. Even in early childhood such clinical findings require specific diag nostic procedures and subsequent treatment which is often invasive but has special importance as regards the early diagnosis of gonadal tumors. We pre sent a child with cryptorchidism on the right, inguinal testis on the left and penoscrotal hypospadias. Cytogenetic analyses revealed a mosaic karyoty pe 45, X/46, X, idic (Yp) with unequal distribution of the mosaic in differ ent tissues, In consequence of this chromosomal aberration the patient had mixed gonadal dysgenesis which is associated with an increased risk of tumo r development in the aberrant gonads. The principles of pediatric, urological, cytogenetic and endocrinological d iagnostics and the mode of data collection in the presented case are descri bed and discussed. Furthermore, a protocol for preventive screening is presented, which combin es urological and endocrinological investigations in males with malformatio ns of the genito-urinary tract to minimize the risk of tumor development in the aberrant gonads.