Epispadias: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Avinash Gottumukkala , Urologists

Epispadias is a rare congenital birth defect in which the urethral opening develops on the upper (dorsal) surface of the penis in males or in an abnormal position near the clitoris or urethra in females. It occurs due to abnormal development of the urinary tract during fetal growth and may occur alone or as part of the bladder exstrophy-epispadias complex (BEEC). Symptoms vary depending on the severity and may include abnormal urine flow, urinary incontinence, genital abnormalities, and, in some cases, reduced fertility or sexual function. Early diagnosis and reconstructive surgery are essential to improve urinary continence, restore normal anatomy, preserve kidney function, and enhance long-term quality of life.

What are the Symptoms of Epispadias?

Epispadias symptoms include an abnormally positioned urinary opening, urinary incontinence, and difficulty controlling urine flow. In males, the penis may appear short, broad, or curved, while in females, there may be a split urethra and abnormal genital appearance. Frequent urinary tract infections and bladder control issues may also occur.

Visible Malformation

The primary symptom of epispadias is the visibly abnormal placement of the urethral opening. In males, the opening is located on the upper side of the penis, while in females, it may be near the clitoris or in the vaginal area.

Urinary Incontinence

Individuals with epispadias often experience urinary incontinence due to the improper closure of the bladder neck. This can lead to frequent urinary tract infections and social discomfort.

Pain and Discomfort

Pain and discomfort during urination are common among those with epispadias. The abnormal positioning of the urethral opening can cause difficulty in controlling the flow of urine, leading to irritation and pain.

What are the Causes of Epispadias?

Epispadias is caused by abnormal development of the urethra during fetal growth, leading to improper positioning of the urinary opening. It is often linked to defects in the formation of the pelvic bones and urinary tract, and may occur as part of the bladder exstrophy-epispadias complex.

Genetic and Environmental Factors

The exact cause of epispadias remains largely unknown. However, it is believed to result from a combination of genetic and environmental factors. Studies suggest that mutations in certain genes involved in the development of the urinary tract may contribute to the occurrence of epispadias.

Developmental Anomalies

Epispadias is often associated with other developmental anomalies, such as bladder exstrophy, where the bladder is exposed outside the body. This indicates a disruption in the normal development of the genitourinary system during embryogenesis.

When to See a Doctor for Epispadias?

Infants born with an abnormal urethral opening, urinary leakage, or visible genital abnormalities should be evaluated promptly by a Urologist. Older children and adults with urinary incontinence or urinary tract complications should also seek medical care.

You should see a doctor if you experience:

Seek immediate medical attention if you:

These symptoms may indicate serious urinary tract complications requiring urgent medical treatment.

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How Is Epispadias Diagnosed?

Epispadias is usually diagnosed at birth through physical examination of the genitalia. Additional tests such as ultrasound, voiding cystourethrogram (VCUG), or other imaging studies may be performed to assess the urinary tract, bladder function, and associated abnormalities.

Physical Examination

Diagnosis typically begins with a thorough physical examination by a pediatric urologist. The abnormal placement of the urethral opening is usually apparent at birth, allowing for early diagnosis and intervention.

Imaging Studies

Imaging studies, such as ultrasound and magnetic resonance imaging (MRI), may be utilized to assess the extent of the malformation and to check for any associated anomalies, such as bladder exstrophy.

What are the Treatments for Epispadias?

Treatment for epispadias primarily involves surgical correction to reposition the urethral opening, improve urinary control, and restore normal appearance. Surgery is usually performed in early childhood and may require staged procedures in more complex cases. Additional treatments may include medications, bladder management techniques, and long-term follow-up to monitor urinary function and prevent complications.

Surgical Intervention

Primary Surgical Repair

The primary treatment for epispadias is surgical intervention. The goal of surgery is to reconstruct the urethra and reposition the urethral opening to its normal location. This procedure is often performed in stages, depending on the severity of the malformation.

Bladder Neck Reconstruction

For individuals with urinary incontinence, bladder neck reconstruction may be necessary. This involves creating a competent bladder neck to improve urinary control.

Postoperative Care

Monitoring and Follow-up

Postoperative care is crucial to ensure the success of the surgical repair. Regular follow-up visits with a urologist are necessary to monitor healing and to address any complications that may arise.

Physical Therapy

Physical therapy may be recommended to strengthen the pelvic floor muscles, which can help improve urinary control and reduce incontinence.

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What is the Recovery Process of Epispadias?

Recovery depends on the type of surgery and severity of the condition. Long-term follow-up is often required.