Hypospadias: What Is It, Causes, Symptoms, and Treatment

Hypospadias is a birth defect characterized by an opening to the penis found somewhere on the underside of the penis instead of its usual location at the tip.

Hypospadias, or penile hypospadias, is the second most common congenital condition of the male reproductive system, after an undescended testicle.

In the United States, it’s estimated to affect roughly 1 in 250 boys at birth. The defining characteristic is the misplacement of the urethral opening. Normally, this opening is right at the glans (the head of the penis). With hypospadias, it can be anywhere from just below the tip to the shaft of the penis, near the scrotum, or even within the scrotum itself. If the opening is on the top side of the penis, it’s classified as epispadias.

Advancements in pediatric urology mean that most cases of hypospadias can be surgically corrected, allowing children to live full, normal lives. The goal of treatment is not just cosmetic, but to ensure proper urinary function and, eventually, normal sexual function.

The defining characteristic of hypospadias is a visibly misplaced urethral opening, also called the meatus. This is usually noticed at birth during a healthcare provider's initial examination or even by parents during diaper changes.

However, the exact symptoms can vary depending on the severity and location of the urethral opening. 

The urethral opening may be located:

• Slightly below the usual opening at the tip of the penis

• Somewhere in the mid-shaft of the penis

• Near the scrotum

• In the scrotum itself

The farther away the opening is from its usual location, the more severe the condition is considered.

Other associated conditions might include:

• Incomplete or asymmetrical prepuce (foreskin), such as a “dorsal hood” that leaves the underside exposed

• Downward curvature of the penis (chordee)

• Abnormal urinary stream due to the displacement of the urethral opening

• Rarely, an undescended testicle

Most cases of hypospadias are treated in infancy with surgery. In countries with limited access to healthcare, men may remain untreated until adulthood. This may lead to high rates of psychiatric symptoms such as depression or suicidal thoughts, although more research is needed. 

Are There Different Types of Hypospadias?

Hypospadias may be classified based on the location of the abnormalities:

• Distal hypospadias. The opening is near its usual location at the end of the penis.

• Midshaft hypospadias. The opening is somewhere along the bottom side of the shaft of the penis.

• Proximal hypospadias. The opening is near or within the scrotum.

• Penoscrotal. The opening is at the junction where the shaft of the penis meets the scrotum.

• Epispadias. The opening is on the topside of the penis.

Hypospadias is a congenital birth defect, meaning it’s caused by a problem with the development of the penis in the womb. Like with other differences present from birth, there are often multiple genetic and environmental causes. 

Any condition that leads to problems with penis development between 11 and 16 weeks of gestation can contribute to the development of hypospadias. 

Genetic Factors

There's a strong genetic component to hypospadias, as it tends to run in families. If a father has hypospadias, his son has a higher chance of also having the condition. Similarly, if a first son has hypospadias, subsequent sons have an increased risk.

This suggests that certain genes play a role in the formation of the urethra. No single "hypospadias gene" has been identified; multiple genes likely contribute to a male’s risk of the condition.

In a 2018 study, researchers reported a family history in 22.3 percent of cases, higher than they expected. 

Hormonal Imbalances

Male sex hormones like dihydrotestosterone and testosterone are critical for the normal development of male external genitalia. Anything that disrupts the production, action, or sensitivity to these hormones during a crucial window of fetal development can potentially lead to hypospadias. 

Environmental Exposure

This is an area of ongoing research. Some studies have suggested a potential link between maternal exposure to certain chemicals or medications during pregnancy and an increased risk of hypospadias. For example, some pesticides have been investigated for their potential to interfere with hormone signaling.

While the exact cause of hypospadias isn’t usually clear, some factors have been identified that can increase the likelihood of a baby being born with the condition. 

• Family history. A family history seems to be one of the strongest risk factors.

• Maternal age. Some studies suggest an increased risk of hypospadias in infants born to older mothers. However, research is still ongoing. 

• Maternal obesity. Women with obesity before or during pregnancy may have a slightly increased risk of having a child with hypospadias. 

• Maternal diabetes. Preexisting diabetes or gestational diabetes in the mother has been linked to a higher risk of various birth defects, including hypospadias. 

The diagnosis of hypospadias is typically straightforward and usually happens very early in a child's life, usually right after birth or within the first few days when a pediatrician or the birthing doctor performs a physical examination of the newborn, including inspecting the genitals. 

They will look for:

• An abnormal location of the urethral opening on the underside of the penis

• An abnormal appearance of the foreskin

• Any downward curvature of the penis

• The presence of two testicles in the scrotum to check for an undescended testicle

Once hypospadias is suspected or diagnosed, the doctor will almost always refer your family to a pediatric urologist. This is a specialist who deals with urinary and reproductive issues in children. 

The urologist will conduct a more detailed examination to assess the severity of the hypospadias, identify any associated conditions, and discuss treatment options.

Rarely, your child may need additional tests, especially if they have severe forms of hypospadias. These tests may include:

• Genetic tests to confirm biological sex

• Hormone tests to look for associated disorders of sexual development

• Ultrasound of the kidneys or bladder

The primary treatment for hypospadias is surgery. The goal of surgical correction is to:

• Reposition the urethral opening to the tip of the penis and correct any penile curvature

• Create a penis that looks cosmetically normal

• Ensure proper urinary flow and eventual sexual function

Most surgeries for hypospadias are performed when a child is between 6 and 18 months of age. At this time, the child is old enough to undergo anesthesia safely, but young enough that they won't remember the surgery, minimizing any psychological effects.

Early correction also allows for normal toilet training and a more typical childhood.

The surgery generally has high satisfaction rates, and many children have no long-term complications. 

One-Stage vs. Two-Stage Repair

Surgical treatment for hypospadias may be performed using a one-stage or two-stage approach. 

One-Stage Repair

The one-stage approach is the most common option, especially for less severe forms of hypospadias. In this single surgery, the surgeon repositions the urethral opening, straightens the penis, and reconstructs the new urethra on the tip using local skin grafts or the existing foreskin tissue.

Two-Stage Repair

The two-stage repair is reserved for more severe cases, where there's significant curvature of the penis or very little tissue available for reconstruction.

The first stage typically involves straightening the penis and creating a flat "urethral plate" on the underside. Several months later, after healing, the second stage involves creating the new urethra opening.

Surgery Complications

Modern hypospadias surgery has very high success rates, but potential complications can occur:

• Urethrocutaneous fistula. A small hole (fistula) can form along the new urethra, causing urine to leak from an unintended spot. This is the most common complication and usually requires a minor second surgery to close.

• Stricture. Narrowing of the new urethra can occur, making urination difficult. This might require further surgery.

• Persistent chordee. The penis might retain some curvature, requiring further correction.

• Cosmetic issues. While rare, sometimes the appearance might not be entirely satisfactory, potentially requiring a revision surgery.

Despite these possible complications, the vast majority of boys who undergo hypospadias repair achieve excellent functional and cosmetic outcomes.

It’s not always possible to prevent hypospadias because genetics play a significant role. But there are steps pregnant women can take to potentially minimize the risk, such as:

• Managing chronic conditions. If you have preexisting diabetes, ensure your blood sugar levels are well-managed before conceiving and throughout your pregnancy. This is critical for preventing a wide range of birth defects.

• Maintaining a healthy weight. Aim for a healthy body weight before pregnancy. Obesity is associated with increased risks for various pregnancy complications.

• Taking prenatal vitamins. Folic acid, in particular, is known to reduce the risk of certain birth defects, and ensuring adequate nutrition is always beneficial for fetal development.

• Avoiding smoking, alcohol, and drug use. These substances are harmful to fetal development and should be avoided during pregnancy.

Hypospadias is a birth defect affecting boys where the urethral opening is located on the underside of the penis rather than at its tip. While it can be concerning for parents, it’s highly treatable. Surgery can restore the normal look and function of the penis for most children.

Surgery is typically performed between 6 and 18 months of age. While complications can occur, modern surgical techniques yield excellent long-term results.

What Is Hypospadias?

Hypospadias is a birth defect in boys where the opening of the urethra (the tube that carries urine out of the body) is not at the tip of the penis. Instead, it forms somewhere along the underside of the penis, ranging from just below the tip to near the scrotum.

How Common Is Hypospadias?

Hypospadias is one of the most common birth defects in male children, affecting approximately 1 in every 250 males born in the United States.

Should a Baby With Hypospadias Be Circumcised?

No. If you or your healthcare provider suspect your baby has hypospadias, you should delay any circumcision plans. The foreskin tissue is often crucial for the surgical repair of the urethra and should be preserved.

When Is Surgery Typically Performed for Hypospadias?

Most surgeries for hypospadias are performed between 6 and 18 months of age. This timing minimizes the psychological effects on the child and allows for normal toilet training.

Will Hypospadias Affect a Child's Future Fertility or Sexual Function?

With successful surgical correction, most individuals with hypospadias will have normal urinary function, sexual function, and fertility as adults.