Purpose: We studied the incidence of chromosomal anomalies in patients with cryptorchidism and hypospadias to determine the value of routine karyotyping in this population.
Materials and methods: Blood samples from 984 patients with cryptorchidism and/or hypospadias were studied for chromosome analysis.
Results: 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.
Conclusions: 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.