A new University of Missouri research project aims to prevent a common birth defect that affects 1% of all males born in Missouri.
Hypospadias affects the urethra, foreskin and curvature of the penis, and is usually altered in surgery as a baby.
Ciro Amato is a professor of Urology at MU’s School of Medicine and the lead researcher for the project to help prevent the defect in the future.
“This research is really interested in trying to uncover some of the unknowns about what is causing hypospadias within the human population,” he said.
The. project has been awarded $3.4 millio from the National Institutes of Health. Amato and his team of researchers will look at a particular gene called Box Cell 2 and the cell population that expresses that gene.
“We think that these cells are really important for remodeling the urethra during urethra closure, and so we're doing a bunch of different types of experiments to determine what are the cells' role in urethra closure, and how is this gene also important for that process?” Amato said.
To best understand the birth defect, Amato will also be meeting with a local urologist to discuss findings. Elizabeth Malm-Buatsi is a pediatric urologist with MU Health Care.
“He brings that science background and the lab background and the techniques, then we meet weekly, usually, to talk about what I'm seeing," Malm Buatsi said. "And what maybe we can think about coming up in the next few years to prevent some of the complications we have and also maybe prevent it from happening in the first place."
There are three types of hypospadias, which change the location of the urethra and the severity of the defect. It is typically found and altered through surgery in the first months after birth. In especially severe cases, doctors are able to see it during ultrasounds.
Without surgery, complications could arise with intercourse and urination. It is also difficult to be circumcised without surgery, and some cases even require multiple surgeries with potential long-term side effects.
Malm-Buatsi said research like Amato's is important to continue to understand the defect that affects thousands of newborns every year.
“We’ve mastered a few steps to reduce how common those with complications happen but not drastic change to really make a huge impact in our society,” she said.
In most cases, the cause is unknown. The research will look to find possible causes in order to better understand and prevent the birth defect.
“We don't really have a great idea as to what is causing hypospadias cases. And so how can you begin to even think about preventing a disease when you don't even know what's causing it?” Amato said.
Amato said trials with mice and other reports have suggested exposure to pesticides and other chemicals have had correlations to the birth defects. He said the best form of prevention, for now, is to prevent overexposure.
“One thing that's readily accessible is to try to limit your exposure to environmental chemicals that might have endocrine disrupting properties, things like hair dyes, pesticides, plastics, that type of thing,” Amato said.
