Introduction
Epispadias is an uncommon birth defect that impacts the urethra, the conduit responsible for transporting urine from the bladder outside the body. In cases where a child is born with this condition, the urethral opening is not in the usual location. In boys, the urethra opens on the top of the penis rather than the tip, creating a gutter-like appearance between the opening and the tip. Girls with epispadias have the urethral opening near the clitoris or even in the belly area, which can result in underdeveloped or dysfunctional external genitalia and urethra.
While most children are born with normally functioning genitals, epispadias can cause issues with both appearance and function. Fortunately, pediatric urologists can perform various types of surgeries to correct this condition. This information aims to assist parents in discussing treatment options with their child's urologist.
What Are the Impacts of Epispadias on Boys?
Epispadias is a rare condition that primarily affects males, with a prevalence of only one in 117,000. Boys with epispadias tend to have a broad, short, and upwardly curved penis, also known as "dorsal chordee," due to the widely separated pelvic bones to which the penis is attached. As a result, the penis is often retracted towards the body.
Normally, the urethral opening, also called the "meatus," is positioned at the tip of the penis. However, In boys with epispadias, the meatus (the external opening of the urethra) is situated on the upper part of the penis, and a groove extends along the top of the penis to the tip. The classification of epispadias is based on the location of the meatus on the penis.
Epispadias can be classified into three types based on the location of the abnormality on the penis:
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Glanular Epispadias: Located on the head of the penis.
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Penile Epispadias: Found along the shaft of the penis.
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Penopubic Epispadias: Situated near the pubic bone.
The position of the meatus, or the urethral opening, can indicate the bladder's ability to store urine. When the meatus is positioned near the base of the penis and the abdominal wall, it may indicate an affected bladder sphincter that cannot hold urine.
In most cases of penopubic epispadias, the pelvic bones do not close together in the front, leading to a bladder sphincter that is shaped like a horseshoe rather than a ring. As a result, urine leakage occurs, especially with stress, such as coughing or exertion. Most boys with penopubic epispadias, as well as about two-thirds of those with penile epispadias, require surgery to correct the bladder neck.
What Are the Impacts of Epispadias on Girls?
Epispadias is a considerably rarer condition in girls, occurring in only one out of 484,000 cases. Girls with epispadias often have varying degrees of separation in their pubic bones, which causes their clitoris to be split into two halves and prevents it from connecting in the middle. Additionally, the bladder neck is almost always impacted, leading to urinary leakage under stressful situations such as coughing or physical exertion. However, early surgical intervention can address these issues in most cases.
What Are the Symptoms of Epispadias?
Epispadias is typically diagnosed during one of the first newborn examinations that take place while the baby is still in the hospital. In most cases, the diagnosis occurs before any noticeable symptoms appear.
However, if the condition is very mild, healthcare providers may not detect it during the initial exam. In such cases, parents may only notice symptoms such as urine leakage when toilet training their child. It is worth noting that girls are more likely than boys to go undiagnosed with epispadias.
What Is the Cause of Epispadias?
The process of organ formation in a developing fetus is complex and involves a carefully timed sequence of steps. Often, if there is a defect in one organ, there may be other accompanying defects. Epispadias rarely occurs in isolation and is frequently accompanied by bladder issues. In some cases, defects in the large intestine may also be present.
The severity of the epispadias and its impact on the genitalia can vary. In some boys, it may manifest as a small dimple above the normal urethral opening on the tip of the penis, while in girls, it may involve a double clitoris. If the urethra or bladder is affected, the epispadias tend to be more severe. This range of issues is collectively referred to as the exstrophy-epispadias complex.
How to Diagnose Epispadias?
Epispadias is typically detected shortly after birth. However, in cases where the defect is mild, it may go unnoticed initially and only become apparent when the child is toilet-trained and experiences urine leakage. This is more frequently observed in girls.
How to Treat Epispadias?
The main goal of the treatment is to achieve the optimal appearance and functionality of the affected genitals, preferably with minimal surgical procedures. Depending on the child's sex, there are different surgical alternatives accessible to address this condition.
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Surgical Treatment in Boys: The primary objective of treating epispadias in boys is to ensure proper functionality and appearance of the penis with minimal surgeries. The treatment aims to correct dorsal bend and chordee in the penis, ensure adequate length, and create a normal appearance. When epispadias affects the bladder and bladder neck, surgical intervention is typically required to address these concerns. This surgical procedure aims to enhance urinary control and may include measures to preserve fertility, depending on the individual case. The preferred type of surgery depends on the surgeon's expertise and preference, as well as the type of epispadias. In some cases, where the penis is severely underdeveloped, a specialist may be required for the surgery.
The two most common surgical techniques are the modified Cantwell technique, which repositions the urethra by rearranging part of the penis, and the Mitchell technique, which involves disassembling the penis entirely and reconstructing it to correct dorsal bend and urethral placement.
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Surgical Treatment in Girls: Girls with epispadias may have a less complicated reconstruction than boys, as the urethra and vagina may be shorter and closer to the front of the body. The clitoris may be divided into two parts, but the internal female organs, such as the uterus, fallopian tubes, and ovaries, are usually normal.
When diagnosed at birth, it is possible to bring together the two parts of the clitoris and reposition the urethra to its normal location in the treatment of epispadias. An early repair can also prevent incontinence from becoming an issue.
However, if the condition goes unnoticed or untreated, surgical correction for incontinence may be required when discovered. For older girls or young women with a narrow vaginal opening, reconstruction can be done after puberty.
What Is the Prognosis of Epispadias?
After undergoing surgical repairs during infancy, children typically experience positive outcomes. Around one-third of these children will not require any additional surgeries and will have good urinary control. However, a child with additional medical issues, like bladder exstrophy, may need further procedures to correct the bladder. Nonetheless, most children can attain urinary control with appropriate surgical treatment.
Conclusion
Epispadias is a rare congenital abnormality that affects the urethra and can lead to issues with both appearance and function. Boys with epispadias tend to have a broad, short, and upwardly curved penis with the meatus located on the top of the penis. Girls with epispadias have a urethral opening near the clitoris or in the belly area. Pediatric urologists can perform various types of surgeries to correct this condition, and early surgical intervention can address the issues in most cases.
