A small percentage of males born with cryptorchidism (failure of one or both testicles to descend into the scrotum), the most frequent congenital birth defect in male children, are more likely to have genetic mutations, including for a syndrome that is a common genetic cause of infertility, according to a study in the November 19 issue of JAMA, the Journal of the American Medical Association.
Cryptorchidism occurs in 2-4 percent of full-term male births. "Although cryptorchidism is often considered a mild malformation, it can seriously affect men's health, representing the best characterized risk factor for infertility and testicular cancer in adulthood," the authors write. The cause of cryptorchidism remains mostly unknown.
Alberto Ferlin, Ph.D., of the University of Padova, Italy, and colleagues conducted a study to examine the frequency of genetic alterations in cryptorchidism. The study included 600 male infants with cryptorchidism, who were followed up for 2 to 3 years (through January 2008), and 300 male children who did not have cryptorchidism as controls.
The researchers found that the overall frequency of genetic alterations in boys with cryptorchidism was low (17/600 [2.8 percent]) and was statistically significantly higher than controls, both among children with persistent (since before birth) cryptorchidism (16/303 [5.3 percent] vs. 1/300 [0.3 percent] in controls) and among those with bilateral (both testes) cryptorchidism (10/120 [8.3 percent]). Children with persistent cryptorchidism had 17 times the odds of having a genetic alteration; the odds were 27 times higher for boys with bilateral persistent cryptorchidism.