Epispadias is a congenital abnormality of the urethra (urethra), where the opening in boys is not located at the top of the glans but somewhere on the back of the glans or penis and in girls the urethra is higher than usual. Epispadias often involves more abnormalities in the urinary system, such as an open bladder (ectropia vesicae). Epispadias belongs to the so-called exstrophy-epispadias complex or EEC, an anomaly or abnormality of multiple organs (the presence of several defective organs). An isolated form of epispadias is quite unusual; it usually occurs along with other malformations. Boys are much more affected by the phenomenon than girls. Epispadias can be corrected surgically and the procedure should be performed before puberty.
- What is epispadias?
- Epispadias in boys
- Epispadias in girls
- Examination and diagnosis
- Risks and complications
- Treatment of epispadias
- Surgery on boys
- Surgery on girls
What is epispadias?
In epispadias, the opening of the urethra is not at the tip of the glans penis or glans, but somewhere on the back of the glans or penis. It can also occur in girls. In that case, the urethra is higher than usual. This congenital defect can be corrected through surgery.
Epispadias is a very rare congenital defect of which the cause is unknown as of 2023. During pregnancy, the baby’s organs are formed in stages over a period of time. An epispadias is the result of an error at a certain stage of organ formation and it can affect the bladder and the penis or clitoris. This results in a malformation of the external genitalia. The extent of the epispadias is variable depending on the time at which development of the external genitalia is interrupted. In boys, this deformity can consist of only a small hole above the normal opening and in girls it can go as far as a split clitoris (clitoris bifurcata). In the worst case, the exstrophy-epispadias complex occurs. Exstrofia means ‘open bladder’ and epispadias means ‘open urethra’. Both occur in both boys and girls. Exstrophia does not occur without epispadias, but the other way around is possible and this is called isolated epispadias. The urethral opening can also be located on the underside of the penis. In that case it is called ‘hypospadia’. This is more common than epispadias.
Epispadias is a rare condition. About 1 in 120,000 boys are born with it. In girls it is even rarer: 1 in 570,000 girls are born with it.
Epispadias in boys
In boys with epispadias, the urethra opens on top of the glans or penis instead of at the tip of the glans. Furthermore, the penis is often short and curved upwards, towards the abdomen. The penis is attached to the pubic bone, but this can be wide open, which can result in a short penis being pulled into the pelvis. Usually the exit of the urethra is at the end of the glans penis. However, in boys with epispadias, the urethra does not open in the normal place, but somewhere on the top of the penis. The position of the urethral opening is important because it can provide information about continence. The closer the opening of the urethra is located to the pubic bone, the greater the chance that the boy will not be able to retain urine properly. Some children have a ‘stretched’ pubic bone, which affects the function of the bladder neck. In this situation, the neck of the bladder does not close completely, leading to constant dripping of urine (drip incontinence). Some boys with epispadias suffer from urine leakage during exertion (for example when laughing or exercising). This therefore requires reconstructive surgery on the bladder neck. However, most boys have a good bladder neck. They can retain urine and can be toilet trained. However, there is often a curvature of the penis towards the abdominal wall and a urethral opening that can be located anywhere on the dorsal side of the glans or the rest of the penis. Most of these children require surgical treatment.
Epispadias in girls
In these girls, the pubic bone is split apart to varying degrees. This means that the parts of the clitoris do not fuse together in their development, resulting in a split clitoris. The bladder neck is also usually affected by this deformity. As a result, girls with epispadias commonly have stress incontinence: urine leakage when coughing, sneezing, lifting and laughing. In most cases, surgery can solve this problem.
Examination and diagnosis
The diagnosis of epispadias is usually made immediately after birth. Epispadias can be seen with the naked eye, it is a so-called diagnosis à vue. Depending on the location of the urethral opening, the clinical picture can be assessed. Other abnormalities such as dorsal curvature of the penis or dorsally split foreskin may also occur in association with epispadias. Ultrasound and an intravenous urogram are often also performed. The latter is a technique in which the urinary tract is filled with contrast-containing urine, making the urinary tract clearly visible on the abdominal X-ray.
Risks and complications
In general, children with epispadias do not have an increased risk of urinary tract infections. However, in exstrophy-epispadias complex there is an increased risk of urinary tract infections due to the associated vesicouretero-renal reflux (VUR) or the backflow of urine from the bladder to the kidneys. These children should be placed on antibiotic prophylaxis until the reflux is corrected. Children with epispade are otherwise healthy. there is a small risk of malformations of organs other than malformations of the genital and urinary tract and pelvic bones. As a result, it is often not necessary to perform further radiological examination in these children. On the other hand, infants with severe degrees of exstrophy-epispadias complex also have an increased risk of associated malformations such as horseshoe kidneys, enlarged ureters (megaureters), and vesicoureteral reflux. Boys with an advanced form of epispadias or the exstrophy-epispadias complex often have anatomical problems with anatomy, problems with the appearance of the genitals and problems related to infertility. In a normal young man, the neck of the bladder closes during ejaculation. In advanced cases or in the case of exstrophy-epispadias complex, the bladder neck cannot close completely during ejaculation. This means that ejaculation is not directed outwards, but towards the urinary bladder (retrograde ejaculation or ejaculation). In addition, the dorsal curvature of the penis and the short penis, which is wider at the base, can make sexual intercourse difficult. Women with epispade are usually not at risk for infertility because their internal reproductive organs have formed normally.
Treatment of epispadias
The goals of surgical correction are to enlarge the penis and improve its function by eliminating penile curvature, as well as achieving the optimal functionality and cosmetically attractive appearance of the external genitalia. These goals must be achieved with as few interventions as possible. If the bladder neck is also affected, further surgical measures are required to resolve continence and ensure fertility.
Surgery on boys
Often a kind of ‘penis disassembly’ takes place. This involves separating and exposing the penis into all its parts, which are put back together after correction. This will involve returning the urethra to its normal position and straightening the penis. It may be necessary to regenerate and repair the urethra with a new piece of cultured urethra, especially in more severe cases where the urethra is largely absent. If necessary, reconstruction of the bladder neck is also performed.
Surgery on girls
The recovery of the external genitalia is easier in girls than in boys. The urethra and vagina may be short and the clitoris may be divided into two parts. However, the internal sexual organs such as the uterus, fallopian tubes and ovaries are normal. The split clitoris can easily be brought together during the operation and the urethra can often be returned to a normal position very easily. If the exstrophy-epispadias complex is corrected at an early stage in a girl, there is a greater chance of maintaining continence. If the diagnosis is not made early, surgical correction can restore continence. If the vaginal opening is narrow, reconstruction or gynecological repair surgery can be performed after puberty.
Even in case of successful surgery, patients may have long-term problems with:
- depression and psychosocial complications
- sexual dysfunction