Hypospadias (hi-poe-SPAY-dee-us) is a birth defect (congenital condition) in which the opening of the urethra is on the underside of the penis instead of at the tip. The urethra is the tube through which urine drains from your bladder and exits your body.

Hypospadias is common and doesn't cause difficulty in caring for your infant. Surgery usually restores the normal appearance of your child's penis. With successful treatment of hypospadias, most males can have normal urination and reproduction.

In hypospadias, the opening of the urethra is located on the underside of the penis instead of at the tip. In most cases, the opening of the urethra is within the head of the penis. Less often, the opening is at the middle or the base of the penis. Rarely, the opening is in or beneath the scrotum.

Signs and symptoms of hypospadias may include:

• Opening of the urethra at a location other than the tip of the penis
• Downward curve of the penis (chordee)
• Hooded appearance of the penis because only the top half of the penis is covered by foreskin
• Abnormal spraying during urination

When to see a doctor

Most infants with hypospadias are diagnosed soon after birth while still in the hospital. However, slight displacement of the urethral opening may be subtle and more difficult to identify. Talk to your doctor if you have concerns about the appearance of your child's penis or if there are problems with urination.

Hypospadias is present at birth (congenital). As the penis develops in a male fetus, certain hormones stimulate the formation of the urethra and foreskin. Hypospadias results when a malfunction occurs in the action of these hormones, causing the urethra to develop abnormally.

In most cases, the exact cause of hypospadias is unknown. Sometimes, hypospadias is genetic, but environment also may play a role.

Although the cause of hypospadias is usually unknown, these factors may be associated with the condition:

• Family history. This condition is more common in infants with a family history of hypospadias.
• Genetics. Certain gene variations may play a role in disruption of the hormones that stimulate formation of the male genitals.
• Maternal age over 35. Some research suggests that there may be an increased risk of hypospadias in infant males born to women older than 35 years.
• Exposure to certain substances during pregnancy. There is some speculation about an association between hypospadias and a mother's exposure to certain hormones or certain compounds such as pesticides or industrial chemicals, but further studies are needed to confirm this.

If hypospadias is not treated, it can result in:

• Abnormal appearance of the penis
• Problems learning to use a toilet
• Abnormal curvature of the penis with erection
• Problems with impaired ejaculation

Your child's pediatrician can diagnose hypospadias based on a physical exam. He or she will likely refer you to a surgeon who specializes in genital and urinary conditions (pediatric urologist) for further evaluation. Medical centers with specialty teams can help you evaluate options and can provide expert treatment.

When the opening of the urethra is abnormal and the testicles cannot be felt on exam, the genitals may be difficult to identify as clearly male or female (ambiguous genitalia). In this case, further evaluation with a multidisciplinary team is recommended.

Some forms of hypospadias are very minor and do not require surgery. However, treatment usually involves surgery to reposition the urethral opening and, if necessary, straighten the shaft of the penis. Surgery is usually done between the ages of 6 and 12 months.

If the penis looks abnormal, circumcision should not be done. If hypospadias is found during circumcision, the procedure should be completed. In either case, referral to a pediatric urologist is recommended.

Surgery

Most forms of hypospadias can be corrected in a single surgery that's done on an outpatient basis. Some forms of hypospadias will require more than one surgery to correct the defect.

When the urethral opening is near the base of the penis, the surgeon may need to use tissue grafts from the foreskin or from the inside of the mouth to reconstruct the urinary channel in the proper position, correcting the hypospadias.

Results of surgery

In most cases, surgery is highly successful. Most of the time the penis looks normal after surgery, and boys have normal urination and reproduction.

Occasionally, a hole (fistula) develops along the underside of the penis where the new urinary channel was created and results in urine leakage. Rarely, there is a problem with wound healing or scarring. These complications may require an additional surgery for repair.

Follow-up care

Your child will need a couple of visits to the surgeon after surgery. After that, regular follow-up with your child's pediatric urologist is recommended after toilet training and at puberty to check for healing and possible complications.

In most cases, your child is diagnosed with hypospadias while still in the hospital after birth. You'll likely be referred to a pediatric urologist. Here's some information to help you get ready for your appointment.

What you can do

Before the appointment:

• Ask a family member or friend to go with you — a trusted companion can help you remember information and provide support.
• Make a list of questions to ask your doctor.

Questions to ask might include:

• Does my child need to have surgery?
• When is the best time for surgery?
• What are the risks associated with this surgery?
• What happens if my child doesn't have the surgery?
• Will this condition affect my child's fertility or sexual function later in life?
• What is the likelihood of future children having the same condition?
• Are there any brochures or other printed material that I can have?
• What websites do you recommend?

Don't hesitate to ask other questions during the appointment.

What to expect from your doctor

Be ready to answer questions from your baby's doctor, such as:

• Has anyone else in your family been diagnosed with hypospadias?
• Does your child's penis curve downward during an erection?
• Have you noticed any abnormal spraying when your child urinates?