A single gene may be responsible for a rare form of male infertility, reports a new study published in the American Journal of Human Genetics.
Researchers in France worked with 20 men who had been diagnosed with globozoospermia – a rare but severe condition which causes male infertility due to a malformation of part of the sperm. Men with the condition have abnormally round-headed sperm, which lack the necessary enzymes to penetrate the female’s egg cell.
In looking at the 20 individuals with the condition, the researchers found that 75 percent of the patients were missing a DNA chromosome called DPY19L2.
The study suggests that the DPY19L2 gene is necessary for the sperm to form properly. With this information, doctors may be able to better diagnose and treat sufferers of globozoospermia.
The findings also show promise in the field of male contraceptives. A patent application filed in 2009 suggests using hormonal male contraceptives to prevent the formation of fertile sperm by blocking the DPY19L2 chromosome.