title: [Undescended testis and hypospadia in sex chromosomal aberrations].
abstract: If hermaphrodite genitals are present in the patient or a higher degree of hypospadia is shown with maldescensus testis, a chromosomal disorder must be considered as one potential cause of the anomaly. The case report of a child with cryptorchidism on the right, inguinal testis on the left and penoscrotal hypospadia is presented as an example. A mosaic karyotype 45, X/46, X, idic (Yp) was diagnosed in this patient after chromosomal analysis. The cell line with the isodicentric Y chromosome could be demonstrated in about 90% of the lymphocytes, but only in 7% of the fibroblasts of the preputium. A derivative Y could not be detected in interphase nuclei in the buccal mucosa, i.e. only the cell line with monosomy X was presented. There was thus chromosomal mosaicism with unequal tissue involvement and a high potential for malignant transformation. Guidelines of pediatric urological, cytogenetic and endocrinological investigations and the diagnostic procedures are described and discussed. A prevention protocol for patients with comparable gonosomal mosaicism is presented.
authors.affiliation: Institut für Humangenetik der Universität Bonn.
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: H U
authors.initials: HU
authors.lastname: Schweikert
authors.forename: P
authors.initials: P
authors.lastname: Brühl
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male; D012730:Sex Chromosomes / Q000235:genetics* / Q000473:pathology; D014998:Y Chromosome / Q000235:genetics / Q000473:pathology
vernacular_title: Maldescensus testis und Hypospadie bei Aberration der Geschlechtschromosomen.