Cryptorchidism linked to genetic mutations

A small percentage of males born with cryptorchidism are more likely to have genetic mutations, including those for a syndrome that is a common genetic cause of infertility, according to a study by Italian researchers.

Researchers at the University of Padova, Italy, examined the frequency of genetic alterations in 600 male infants with cryptorchidism and in 300 boys who did not have cryptorchidism as controls. The boys were followed for 2 to 3 years.

The overall frequency of genetic alterations in boys with cryptorchidism was low (2.8%) and was statistically significantly higher than in controls, both among children with persistent cryptorchidism (5.3% vs. 0.3% in controls) and among those with bilateral cryptorchidism (8.3%), as reported in JAMA (2008; 300:2271-6).

Children with persistent cryptorchidism had 17 times the odds of having a genetic alteration; odds of a genetic alteration were 27 times higher in boys with bilateral persistent cryptorchidism than in controls.

The most common genetic findings in those with cryptorchidism were eight cases of Klinefelter syndrome and five cases of mutations in the INSL3 receptor gene. When considering birth weight and gestational age, genetic alterations were found exclusively in those of normal weight and gestational age.

“We found that chromosomal aberrations represent the most frequent genetic alteration in participants with isolated cryptorchidism, particularly in those with persistent cryptorchidism, and that chromosomal alterations were exclusively represented by Klinefelter syndrome,” the authors wrote.