Likely Cause of Common Penis Birth Defect Identified

Hypospadias, the most common genital malformation in male babies is due to environmental factors, such as toxicant exposure, which alter epigenetic programming in a forming penis, stated a new study.

Conversely, epigenetic alternations were not found in penile tissue samples taken from the foreskin of healthy babies without hypospadias, according to the Washington State University-led analysis.

The research helps answer long-standing questions surrounding the increased frequency and potential root cause of hypospadias, a birth defect in which the opening of the urethra is located on the underside of the penis instead of the tip.

“Previous researchers have done extensive analyses and not found any kind of genetic DNA sequence mutations that correlate with the presence of the disease, so there has always been a big question mark regarding where it comes from,” said Michael Skinner, corresponding senior author of the study and a WSU professor of biology. “Our study shows the etiology of the disease is environmentally driven through epigenetics rather than a result of changes to the DNA sequence. It gives us a clearer picture of what is going on.”

While the research is still in an early stage of development, it could ultimately lead to earlier detection and better clinical management of hypospadias, the prevalence of which has increased by 11.5% in recent decades, making it the most common genital malformation in newborn males.