[Undescended testis and hypospadia in sex chromosomal aberrations].
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.
Raff
R
R
Institut für Humangenetik der Universität Bonn.
Schubert
R
R
Schwanitz
G
G
van der Ven
K
K
Schweikert
H U
HU
Brühl
P
P
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
Maldescensus testis und Hypospadie bei Aberration der Geschlechtschromosomen.