With a frequency of 1 in 120,000, boys are significantly more frequently affected than girls (1 in 570,000). Overall, however, it is an extremely rare condition for both sexes.
Epispadias result from the incorrect formation of organs during embryonic development. The risk of developing epispadias is higher if one or both parents are affected by a form of EEK. Therefore, a genetic cause for the congenital malformation is very likely.
It is assumed that the cause is a developmental disorder of the so-called cloacal membrane. This then results in epispadias. However, the disorder 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 outwards due to a tear in the abdominal wall.
Epispadias primarily affect the condition of the genital area. The external characteristics of the deformity are therefore different in boys and girls.
In boys with epispadias, the urethra does not end at the tip of the glans but on the back of the penis. The penis is short due to an attachment to the pubic bone and has a large circumference. The penis is bent towards the abdomen due to a curvature. The urethra is split in many cases.
A characteristic of epispadias in boys is that the urethra ends at the back of the penis © SM 1000 | AdobeStock
The urethra and bladder neck are also malformed in girls. Otherwise, in some cases the consequences of the malformation are so minor that they are overlooked. In more severe cases, those affected suffer from urinary incontinence and a split clitoris. This occurs because the parts of the clitoris cannot be joined together due to the attachment to the pubic bone.
Epispadias can be accompanied by bladder ecstrophy as part of the epispadias-ecstrophy complex. In this malformation, the lower abdominal wall is open due to a rupture (tear). This clinical picture is diagnosed at birth at the latest. It must be repaired by surgery within 24 to 72 hours.
In contrast to bladder exstrophy, patients with isolated epispadias do not have an increased risk of urinary tract infections. However, the two malformations often occur in combination. Therefore, the risk of epispadias is not automatically at a normal level. The severity of the malformation is decisive.
Depending on the localization 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 penis shaft) and
- penopubic (in the area of the base of the penis)
epispadias.
Penopubic epispadias can lead to problems with ejaculation. As the neck of the bladder cannot close completely during ejaculation, semen enters the bladder.
The penis is often very short and may therefore not be able to physically penetrate the sexual partner, also due to its curvature. As a result, men may later have difficulty having sexual intercourse.
In many cases, 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 defect. There is usually no impairment of other organs.
Epispadias is usually diagnosed immediately after birth by visual diagnosis.
Like other malformations of the EEK, epispadias require surgical treatment. As part of the surgical procedure, the genitals are reconstructed.
Depending on the severity, the operation is
- either within the first three days of life (if bladder exstrophy is present) or
- between the first and second year of life (in the case of isolated epispadias)
is performed.
In boys, the penis is enlarged and detached from its curvature as part of a penile disassembly according to Mitchell. The procedure involves anatomical dissection of the penis so that it can then be reconstructed. Normally, the surgeon can bring the urethra into its usual position.
Only rarely is it necessary to reconstruct a functional urethra, e.g. in cases of severe damage to the tube.
If the bladder is also impaired , further operations may be necessary. This is to ensure that both
- Fertility (fertility) and
- continence (control of excretory functions)
of the urinary and genital organs can be guaranteed.
In girls, the surgeon brings the two sides of the clitoris together and joins them in a simple procedure. He also corrects the position of the urethra.
If necessary, continence must be restored in a further operation.
In most cases of isolated epispadias, fertility and continence can be preserved or restored. A cosmetically acceptable condition can be achieved by reconstructing the genitalia: in those affected, there are often hardly any external signs of a malformation.
In conjunction with bladder exstrophy, the prognosis is less clear. The complex of problems is much more serious and often requires further surgical correction later on. However, even with a more complicated form of EEK, it is possible to strengthen continence and protect the fertility organs.
However, the operation must be performed immediately after birth in order to achieve the best possible long-term result.
