Understanding Hypospadias at the Molecular Level

Hypospadias is one of the most common human birth defects, affecting 1 out of every 125 newborn males. The urine tube inside of the penis, the urethra, does not form correctly. The opening for the urine (the urethral meatus or 'pee-hole') is not at the end of the penis, but instead is on the underside of the penis, on the shaft, or in the scrotum.

In some patients, hypospadias is caused by abnormal androgen stimulation or abnormal androgen metabolism, but for the majority of patients the cause is unknown. Currently, surgery is the only way to correct hypospadias.

In 15 percent of cases, hypospadias affects more than one male in the family, suggesting that it is an inherited problem. While some hypospadias genes are known, in some affected families we do not know the cause. We hope to enroll more families with hypospadias and use new next-generation DNA technologies to identify the unknown hypospadias genes.