MALDESCENSUS TESTIS AND HYPOSPADIA IN SEX CHROMOSOMAL-ABERRATIONS

If hermaphrodite genitals are present in the patient or a higher degre e of hypospadia is shown with maldescensus testis, a chromosomal disor der must be considered as one potential cause of the anomaly. The case report of a child with cryptorchidism on the right, inguinal testis o n the left and penoscrotal hypospadia is presented as an example. A mo saic karyotype 45, X/46, X, idic (Yp) was diagnosed in this patient af ter chromosomal analysis. The cell line with the isodicentric Y chromo some could be demonstrated in about 90% of the lymphocytes, but only i n 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 mosaic ism with unequal tissue involvement and a high potential for malignant transformation. Guidelines of pediatric urological, cytogenetic and e ndocrinological investigations and the diagnostic procedures are descr ibed and discussed. A prevention protocol for patients with comparable gonosomal mosaicism is presented.