title: Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations.
abstract: Intersexual genitals or distinct hypospadias in combination with maldescended testis can be caused by endocrinological as well as chromosomal abnormalities. Even in early childhood such clinical findings require specific diagnostic procedures and subsequent treatment which is often invasive but has special importance as regards the early diagnosis of gonadal tumors. We present a child with cryptorchidism on the right, inguinal testis on the left and penoscrotal hypospadias. Cytogenetic analyses revealed a mosaic karyotype 45, X/46, X, idic (Yp) with unequal distribution of the mosaic in different tissues. In consequence of this chromosomal aberration the patient had mixed gonadal dysgenesis which is associated with an increased risk of tumor development in the aberrant gonads. The principles of pediatric, urological, cytogenetic and endocrinological diagnostics and the mode of data collection in the presented case are described and discussed. Furthermore, a protocol for preventive screening is presented, which combines urological and endocrinological investigations in males with malformations of the genito-urinary tract to minimize the risk of tumor development in the aberrant gonads.
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany. raff@mailer.meb.uni-bonn.de
authors.forename: R
authors.initials: R
authors.lastname: Raff
authors.forename: R
authors.initials: R
authors.lastname: Schubert
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
authors.forename: K
authors.initials: K
authors.lastname: van der Ven
authors.forename: P
authors.initials: P
authors.lastname: Brühl
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D003456:Cryptorchidism / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D014998:Y Chromosome