Overview. Hypospadias is a relatively common condition present at birth in which the opening of the urethra – the tube that carries urine from the body – is on the underside of the penis rather than at the tip. It is among the most common birth defects involving the penis, present in approximately 1 in 300 males in varying degrees of severity. When untreated, moderate or severe hypospadias can lead to problems properly using the toilet and, by adulthood, difficulties with sexual intercourse and fertility. However, in most cases surgery during infancy will restore the penis’ normal function and appearance.
Diagnosis. Although it is sometimes detected on a prenatal ultrasound, hypospadias is more commonly diagnosed upon a physical examination at birth. In addition to having the misplaced urethral opening – usually near the tip but in more severe cases along the shaft, or even as low as the scrotum or between the scrotum and the anus – the condition is often marked by a downward curve in the penis (chordee) and a hooded appearance. In the mildest cases, these symptoms will still result in abnormal spraying during urination.
Causes. Hypospadias occurs during the gestation period, and is believed to be caused by a deficient supply of the hormones that stimulate the development of the urethra and foreskin. The reason for this is not always clear. Hypospadias can be inherited – in one of every five cases, a family member also has the condition. There is a higher risk associated with infants conceived through in vitro fertilization (IVF); this is believed to be because of the mother’s increased exposure to the hormone progesterone during the IVF process. Usually, the cause is unknown. In addition, while hypospadias most often occurs as an isolated defect, it can be related to or result in other structural disorders such as undescended testicles, a hernia in the groin area, or backflow of urine from the ureter to the bladder (vesicoureteral reflux).
Treatment. Roughly half of hypospadias cases are classified as first-degree, in which the urethral opening is located on the head of the penis. In second-degree cases, which make up another 20 percent, the urethra opens along the shaft. For both first- and second-degree hypospadias, a relatively simple surgery can reposition the opening. The surgery is usually performed when the infant is 6-18 months old (though it can be done later), minimizing the social embarrassment that can come from having the condition at an older age. For the approximately 30 percent that are considered third-degree hypospadias, with more severe curvature and the urethral opening below the shaft, multiple surgeries may be required.