It has a funny name, but it's a deadly disease that if left untreated can lead to irreversible coma and death. It affects up to half a million people in sub-Saharan Africa. It is clear that international donor funding is still necessary to fully control the disease in sub-Saharan Africa. If an embryo inherits two copies of the gene, the gender of the fetus switches, resulting in irregular genitalia. For example, the testes may not be fully distended, or the clitoris might be abnormally large.
Parents can go for weeks before they find out the sex of their child.
But discovery of this gene could lead to a diagnostic test to determine gender immediately. Mild cases of malformed genitalia occur in 1 percent of all births, or about 3 million people. More severe cases in which obstetricians can't inform the parents whether they had a boy or girl occur in one in 3,000 births. Vilain and his colleagues plan to investigate whether scientists can reduce the amount of the gene, called WNT-4, in the embryo of pregnant women who have already had a child with ambiguous genitalia. If that works, the researchers might be able to repair the problems before the child is born.