Definition

Epispadias is a congenital condition affecting the urethra, the tube through which urine exits the bladder. During fetal development, there is a disruption in the normal formation of the urethra, resulting in incomplete development and an abnormal urinary passage. This condition can lead to difficulties in the formation or function of the urethral passage.

In males with epispadias, the end of the urethra, or the opening of the urinary passage, is typically located:

• Above or along the shaft of the penis
• Above the head of the penis
• Near the pubic bone

Additionally, affected males may exhibit curvature or shortening of the penis, making normal urination challenging. In females with epispadias, the end of the urethra is usually situated between the clitoris and the labia (vaginal lips), although it can also be found in the abdominal area.

Epispadias is a rare congenital anomaly, with a higher incidence in males than in females. The occurrence of isolated epispadias without other anomalies is exceedingly rare, affecting less than 1 per 100,000 births. In females, the incidence of epispadias is even lower, estimated to be approximately 1 in 160,000 to 480,000 births.

Causes

The exact cause of epispadias remains unknown. It is believed to stem from abnormalities in the development of the pubic bone. Epispadias is suspected to result from disruptions during the prenatal development of the genitalia. However, the precise reasons for the occurrence of this condition during pregnancy are still not fully understood.

Epispadias may co-occur with other rare congenital anomalies, as it often manifests alongside other abnormalities. For instance, it can be associated with bladder exstrophy, a condition where the bladder develops outside the abdomen rather than inside. Nearly all children born with bladder exstrophy also exhibit epispadias.

Despite these associations, significant issues during pregnancy with a child born with epispadias are generally not commonly identified.

Risk factor

The exact factors contributing to the risk of epispadias in individuals are not precisely understood. However, similar to bladder exstrophy, certain risk factors have been identified. These may include the male gender, as boys have a significantly higher risk of developing epispadias compared to girls, with approximately a fourfold higher likelihood.

Symptoms

In most cases, healthcare professionals can identify epispadias by examining the baby at birth, as the abnormal appearance of the urinary opening on the genitals is a distinct characteristic. In milder instances, the urinary opening may be slightly displaced from its normal position, making detection challenging until the child begins urinating independently or experiences related issues, such as urinary incontinence. Occasionally, epispadias may only become evident when the child is about to undergo circumcision.

Boys with epispadias typically present with a short, wide penis exhibiting an abnormal curvature. The urinary opening is often situated above or to the side of the penis rather than at the tip and may also be along the shaft.

Girls with epispadias typically display abnormal clitorises and labia (vaginal lips). The urethral opening may be positioned between the clitoris and the vaginal lips, although it can also be found in the abdominal area. Girls with this condition may encounter difficulties in controlling urination, leading to urinary incontinence.

Some children may experience stress urinary incontinence, characterized by urine leakage following sneezing or coughing. In contrast, others may experience urgency urinary incontinence, where they are unable to withhold urine until reaching the bathroom (resulting in bedwetting).

Diagnosis

Doctors typically classify epispadias in boys based on the location of the urethral opening on the penis. This classification is important for predicting the extent of bladder capacity to store urine. The closer the urethral opening is to the base of the penis, the more likely the child is to experience frequent bedwetting due to the bladder's reduced ability to retain urine.

The diagnosis of epispadias is usually made through a physical examination conducted by the doctor. Additionally, the doctor may inquire about any complaints or symptoms observed by the parents, such as abnormal or unusual genital shape or difficulties during urination.

Generally, doctors do not require diagnostic tests to confirm the diagnosis of epispadias. However, X-rays may be performed to assess the shape of the child's pelvic bones. Pelvic X-rays may reveal pubic symphysis diastasis, a condition in which the pelvic bone structures widen excessively. Other diagnostic tests that may aid in diagnosis include:

• Blood tests
• Ultrasound of the urinary and genital systems
• MRI and CT scans

Management

The primary goal of managing epispadias is to restore the appearance and function of the genitals as closely to normal as possible. Typically, in cases of severe epispadias, surgical intervention is necessary to correct the condition.

Urinary incontinence is a common issue in children with epispadias and can often be addressed concurrently. However, a second surgical procedure is usually required to address incontinence, either performed immediately after the initial surgery or at a later time.

There are several surgical options available for both boys and girls, and the choice of method depends on the specific condition of epispadias in the child. The doctor will discuss these options with the parents to determine the most appropriate surgical approach.

Complications

Some patients with epispadias may experience urinary incontinence even after surgery. Complications that may arise include:

• Infections
• Discomfort during urination
• Damage to the ureters and kidneys
• Fertility issues
• Urethral stricture and obstruction, involving narrowing and blockage of the urethra, making urination difficult and potentially leading to inflammation or infection
• Persistent short penis size
• Urethral retraction or pulling back, and hypospadias

Prevention

Currently, there are no specific preventive measures to avoid cases of epispadias. However, it is recommended for pregnant mothers to refrain from smoking or consuming alcohol during their pregnancy. Mothers should also take folic acid supplements as prescribed by their doctor during pregnancy.

When to see a doctor?

If you notice anything unusual during your child's urination or if your child's symptoms worsen, it's advisable to have them further examined by a doctor. The doctor will conduct a medical interview, physical examination, and possibly specific diagnostic tests to establish a definitive diagnosis of the underlying condition and determine the appropriate management tailored to your child's needs.

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