Moreno-Garcia Marta, Miranda Emilia Barreiro
Department of Genetics, 12 de Octubre Hospital, Madrid, Spain.
J Urol. 2002 Nov;168(5):2170-2; discussion 2172. doi: 10.1016/S0022-5347(05)64346-7.
We studied the incidence of chromosomal anomalies in patients with cryptorchidism and hypospadias to determine the value of routine karyotyping in this population.
Blood samples from 984 patients with cryptorchidism and/or hypospadias were studied for chromosome analysis.
Chromosomal anomalies were detected in 27 of the 916 patients (2.94%) with cryptorchidism and in 7 of the 100 (7%) with hypospadias. There were chromosomal aberrations in 13 of the 706 patients (1.84%) with isolated cryptorchidism (no additional congenital abnormalities) and in 14 of the 210 (6.67%) with cryptorchidism with associated anomalies. We identified normal karyotypes in 26 patients with isolated hypospadias, although 7 of the 74 (9.46%) with hypospadias and additional abnormalities had chromosomal aberrations.
It is important to perform karyotyping in these patients, mainly when they show associated abnormalities other than cryptorchidism or hypospadias. However, cost-benefit analysis must be done in each case.
