It is a rare congenital anomaly (present at birth) that involves the opening of the urethra (the tube through which urine leaves the bladder).
In boys with epispadias, the urethra opens at the top of the penis rather than the tip, and the space between this opening and the tip of the penis appears like an open book (gutter).
In girls with epispadias, the urethral opening is towards the clitoris or even the abdominal area. This causes the external genitalia and urethra to not form or function well.
Epispadias can cause a penis or urethra that doesn’t work well or looks normal, and there are many types of surgery that pediatric urologists can use to fix this problem.
Babies with epispadias are usually healthy and well. Aside from problems with the genitourinary system and pelvic bones, other organ systems tend to function well.
Because of this, these children do not need many diagnostic tests (such as X-rays and CT scans).
If a baby is born with the most severe forms, they are at higher risk for other defects, such as enlarged ureters or vesicoureteral reflux.
Children with penopubic epispadias or exstrophy-epispadias complex may be infertile.
In normal young men, the bladder neck closes when sperm moves from the testicles to the urethra during ejaculation.
In some men with this birth defect, the bladder neck may not close completely during ejaculation.
Some of these men may have poor sperm quality.
Also, flexion and a short, plump penis can make sex difficult. Surgical repair can often reduce these problems.
Women with epispadias are generally not at risk for infertility, as their internal organs are normal.
Urinary tract under normal conditions
The urinary tract is like a plumbing system. It has special “tubes” that allow waste to flow through.
The urinary tract is made up of 2 kidneys, 2 ureters, the bladder, and the urethra.
The kidneys act as a filter system for the blood. They remove toxins and preserve useful proteins, sugar, salts and minerals.
Urine is made in the kidneys as a waste product and flows down two tubes 10 to 12 inches long called ureters.
The ureters are about a quarter inch wide and have muscular walls. They push urine into the bladder.
The bladder can swell to hold urine until you are ready to empty it. It also closes the path so that urine cannot return to the kidneys.
The tube that carries urine from the bladder out of the body is called the urethra.
In males, the urethra is long. It begins in the bladder and runs through the prostate gland, the perineum (the space between the scrotum and the anus), and the penis.
In females, the urethra is much shorter. It runs from the bladder in front of the vagina and opens outside the body.
The urethra has muscles called sphincters. The sphincter complex (also called the bladder neck) is a ring-shaped muscle that surrounds the urethra.
They help keep the urethra closed so urine doesn’t leak before it’s ready. These sphincters open when the bladder contracts so it can release urine.
Epispadias in children
Epispadias are quite rare, affecting only 1 in 117,000 men. In boys with epispadias, the penis tends to be wide, short, and curved upwards (penile curvature).
The pelvic bones are widely separated. Since the penis is attached to these bones, the penis bends towards the body.
Normally, the opening of the urethra (the “meatus”) is at the tip of the penis. But in boys with epispadias, it is on the top of the penis.
From this opening, a groove runs along the top of the penis to the end.
Epispadias are classified according to the location of the meatus on the penis into:
- Glanular epispadias : found on the head of the penis.
- Epispadias of the penis: found along the shaft of the penis.
- Penopubic epispadias: found near the pubic bone.
The position of the meatus can help predict how well the bladder stores urine.
If the meatus is near the base of the penis (and the abdominal wall), the bladder sphincter is likely affected and does not contain urine.
In most cases of penopubic epispadias, the pelvic bones do not meet in front.
The bladder sphincter does not close completely as it is shaped more like a horseshoe than a ring. Because of this, urine leaks out.
Most children with penopubic epispadias and about 2 out of 3 with penile epispadias leak urine under stress (coughing and strenuous exertion).
Most patients will need a bladder neck repair with surgery.
Almost all children with glanular epispadias have a good bladder neck. They can hold urine normally. Still, the flexion and abnormal opening of the penis will need to be repaired with surgery.
Epispadias in girls
Epispadias are much rarer in girls, with only 1 in 484,000 cases. Affected girls have pubic bones that separate to varying degrees.
This prevents the clitoris from connecting in the middle, resulting in 2 clitoral halves.
The bladder neck is also almost always affected. Girls with epispadias probably leak urine with stress (coughing and strenuous exertion).
In most cases, early surgical treatment can fix these problems.
Symptoms of epispadias
Most cases of epispadias are diagnosed at birth during a newborn’s physical exam.
In mild cases of epispadias, the condition may go undetected until parents notice urine leakage after toilet training.
How organs form in a baby during pregnancy is very complicated. Certain steps must occur in a finely timed order.
More often, if there is a defect in one organ, there will also be other defects. Only rarely do epispadias occur alone.
There will also often be problems with the bladder. In rare cases, there may also be defects in the large intestine.
The way epispadias affects the genitals is variable. In some boys, it may just be a small dimple on the tip of the penis above the normal urethral opening. With girls, it could be a double clit.
If the urethra or bladder are affected, epispadias are usually more severe. This wide range of problems is called the exstrophy-epispadias complex.
Diagnosis of epispadias
Epispadias are most often seen at birth. If the defect is slight, it may not be noticeable at first.
In some cases, it may not be noticeable until the child has been toilet trained and has urine leaks. This is more common with girls.
The main goal of treatment is to make the genitals look and function as normally as possible. This is ideally done with the fewest number of surgeries.
Surgery options for children
The main goals of epispadias treatment for children are:
- Make sure the penis works.
- Correction of curves in the penis (dorsal fold and penile curvature).
- Make the penis a good length.
- Make the penis look normal.
If the bladder and bladder neck are affected, surgery will be needed to make sure the child can control his urine. Surgery may also be necessary to preserve fertility.
Surgery is often done while the child is a baby, and the type chosen depends on:
- The type of epispadias.
- Surgeon experience.
- Surgeon’s preference.
Sometimes boys with exstrophy-epispadias complex are born with a very underdeveloped penis. In these cases, the surgery requires more skill and experience.
There are two popular types of surgery. Both provide a normal looking penis that works properly.
Cantwell’s modified technique
The modified Cantwell technique involves “rebuilding” the penis. Some penis is needed to move the urethra to a more normal position.
Mitchell’s technique involves completely disassembling the penis and then reassembling it. This is done so that the urethra is in the most functional and normal position, and the dorsal curvature is corrected.
Surgery options for girls
Reconstruction for girls is less complex than for boys.
The urethra and vagina can be short and close to the front of the body. The clitoris can be in 2 parts. Internal female structures (uterus, fallopian tubes, and ovaries) are usually normal.
If diagnosed at birth, the 2 parts of the clitoris can be joined and the urethra can be placed in the normal position. If repaired early enough, lack of urinary control may not be a problem.
If the problem is not diagnosed early or repair is not done early, the incontinence can be surgically corrected when discovered.
If the vaginal opening is narrow in older girls or younger women, reconstruction can be done after puberty.
With the newer methods of surgical repair at birth, nearly 1 in 3 children achieve urinary control without other procedures.
Children with exstrophy-epispadias complex may need additional surgery to repair the bladder neck.
This is done to improve the strength of the urethra and sphincter. Or, if a child cannot go to the bathroom normally, there are more options.
One way is to inject a bulking material around the neck of the bladder. This makes the neck of the bladder thicker so urine doesn’t leak out.
There are also more complex procedures. Surgery creates a longer urethral tube. Another is to wrap the neck of the bladder in a sling.
Sometimes a hole (fistula) can open from the urethra to the skin after a major repair. This is not very common with today’s techniques. If this occurs, additional surgery is needed to close the hole.
Persistent penile curvature (flexing of the penis) is quite typical with older techniques. Now it is less common. Epispadias repair does little harm to erectile function.