Epispadias: Specialists and Information

With an incidence of 1 in 120,000, boys are significantly more likely to be affected than girls (1 in 570,000). Overall, however, it is an extremely rare condition for both sexes.

Epispadias results from abnormal organ formation during embryonic development. The risk of developing epispadias is higher if one or both parents have a form of EEK. Therefore, a genetic cause for this congenital malformation is very likely.

It is believed that the underlying cause is a developmental disorder of the so-called cloacal membrane. This then results in epispadias. However, the abnormality of this membrane is not as severe as in bladder exstrophy. The latter is a malformation in which, among other things, the bladder is displaced outward due to a tear in the abdominal wall.

Epispadias primarily affects the structure of the genital area. Therefore, the external characteristics of the malformation differ between boys and girls.

In boys with epispadias, the urethra does not end at the tip of the glans but on the dorsal side of the penis. The penis is short due to its attachment to the pubic bones and has a large circumference. The penis is curved toward the abdomen. In many cases, the urethra is split.

A characteristic of epispadias in boys is that the urethra ends on the dorsal side of the penis © SM 1000 | AdobeStock

In girls, too, the urethra and bladder neck are malformed. Otherwise, the consequences of the malformation are so minor in some cases that they go unnoticed. In more severe cases, those affected suffer from urinary incontinence as well as a split clitoris. This occurs because the parts of the clitoris cannot be connected to each other due to their attachment to the pubic bones.

Epispadias may be accompanied by bladder exstrophy as part of the epispadias-exstrophy complex. In this malformation, the lower abdominal wall is open due to a rupture (tear). This condition is diagnosed at birth at the latest. It must be corrected surgically within 24 to 72 hours.

Unlike in cases of bladder exstrophy, patients with isolated epispadias do not have an increased risk of urinary tract infections. However, the two malformations often occur together. Therefore, the risk associated with epispadias is not automatically at a normal level. The severity of the malformation is the determining factor.

Depending on the location of the urethral opening in affected boys, a distinction is made between

• glandular (in the area of the glans),
• penile (in the area of the penile shaft), and
• penopubic (in the area of the base of the penis)

epispadias.

Penopubic epispadias can lead to problems with ejaculation. Since the bladder neck cannot close completely during ejaculation, semen enters the bladder.

The penis is often very short and, due to its curvature, may not be able to penetrate a sexual partner. As a result, men may have difficulty engaging in sexual intercourse later in life.

In many cases, affected women suffer from a form of stress incontinence. In women, sexual function and fertility are not impaired.

Epispadias patients are considered healthy apart from their condition. There is generally no impairment of other organs.

Epispadias is usually diagnosed immediately after birth through visual examination.

Like other congenital anomalies of the urogenital tract, epispadias requires surgical treatment. During the surgical procedure, the genitals are reconstructed.

Depending on the severity, the surgery is performed

• either within the first three days of life (in cases of bladder exstrophy) or
• between the first and second years of life (in cases of isolated epispadias)

.

In boys, the penis is enlarged and straightened as part of a Mitchell penile disassembly. This procedure involves an anatomical dissection of the penis so that it can subsequently be reconstructed. Normally, the surgeon is able to reposition the urethra into its usual position during this process.

Only rarely is it necessary to create a functional urethra through reconstruction, e.g., in cases of severe damage to the urethra.

If the bladder is also affected, additional surgeries may be required. This is to ensure that both

• fertility and
• continence (control over excretory functions)

of the urinary and genital organs can be maintained.

In girls, the surgeon performs a simple procedure to bring the two sides of the clitoris together and join them. In doing so, the surgeon also corrects the position of the urethra.

If necessary, continence must be restored in a subsequent surgery.

In most cases of isolated epispadias, fertility and continence can be preserved or restored. Genital reconstruction results in a cosmetically acceptable outcome: Externally, there are often hardly any visible signs of a malformation in affected individuals.

When epispadias is associated with bladder exstrophy, the prognosis is less clear. The complex of problems is significantly more severe and often requires further surgical corrections later on. However, even in more complicated cases of epispadias, it is possible to improve continence and protect the reproductive organs.

However, the surgery must be performed immediately after birth to achieve the best possible long-term outcome.