Most boys and girls are born with fully functioning genitalia. But a congenital condition called epispadias can produce a penis or vagina that not only performs inefficiently, but also looks abnormal. Luckily, pediatric urologists have various surgical techniques at their disposal to repair the ill-placed urethral opening, hooded foreskin and curvature associated with this condition. The following information should help you speak to your child's urologist about diagnosis and treatment.

What is epispadias?

During pregnancy, organ formation in the developing baby is a finely organized set of timed events. Epispadias represents a unique error in this process resulting in a malformation of the external genitalia. The problem can also include the urethra bladder and large intestine. The degree to which epispadias affects the genitalia varies. For instance, in boys, it can be just a small dimple on the tip of the penis above the normal opening or with girls, it could be a double clitoris. However, whenever the urethra or bladder are involved the epispadias usually more severe. This large spectrum of malformations is called the exstrophy-epispadias complex. Only rarely does epispadias occur as an isolated defect.

How does epispadias affect boys?

Fortunately, epispadias is quite rare, with only one in 117,000 males being affected. In affected boys, the penis is typically broad, shortened and curved toward the abdomen (dorsal chordee). The penis is attached to the pelvic bones, which are widely separated, resulting in a penis that is pulled back toward the body.

Normally, the meatus is located at the tip of the penis; however, in boys with epispadias, it is located on top of the penis. From this abnormal position to the tip, the penis is split and is opened, forming a gutter. It is as if a knife was inserted into the normal meatus and the skin stripped away on the top of the penis. Classification of epispadias is based on the location of the meatus on the penis. It can be positioned on the glans (glanular), along the shaft of the penis (penile) or near the pubic bone (penopubic). The position of the meatus is important in that it predicts the degree to which the bladder can store urine (continence). The closer the meatus is to the top base of the penis, the more likely the bladder will not hold urine.

In most cases of penopubic epispadias, the bones of the pelvis do not come together in the front. In this situation, the bladder neck cannot close completely and the result is leakage of urine. Most boys with penopubic epispadias and approximately two-thirds of those with penile epispadias have leakage of urine with stress (e.g., coughing and strenuous effort). Ultimately, they may require reconstructive surgery of the bladder neck. Almost all of the boys with glanular epispadias have a good bladder neck. They can hold urine and toilet train normally. However, the penis abnormality (upward bend and abnormal opening) still requires surgical repair.

How does epispadias affect girls?

Epispadias is much more rare in girls, with only one of 484,000 affected. Those who are affected have pubic bones that are separated to varying degrees. This causes the clitoris not to fuse during development, resulting in two halves of the clitoris. Furthermore, the bladder neck is almost always affected. As a consequence, girls with epispadias invariably leak urine with stress (e.g., coughing and strenuous effort). Fortunately, in most cases, early surgical treatment can resolve these problems.

How is epispadias diagnosed?

The diagnosis of epispadias is typically made at birth. Although, on occasion when the malformation may not be drastic, epispadias has been missed at birth and only becomes apparent when the child (usually female) remains wet after toilet training.

What are the risks associated with epispadias?

Presently, there are no studies that have documented that a child with epispadias is at increased risk for urinary tract infections (UTIs). However, if complete exstrophy-epispadias exists, the child will be at increased risk for UTIs due to a condition called vesicoureteral reflux. The standard of care for these children is to maintain them on antibiotics until the reflux is corrected.

Babies with epispadias are typically healthy and vigorous. They have a low incidence of abnormalities that affect organ systems other than the genitourinary system and the pelvic bones. Therefore, these children do not require extensive diagnostic radiographic studies. On the other hand, babies born with the more severe form of exstrophy-epispadias complex are at a slightly increased risk for the existence of associated malformations like enlarged ureter or vesicoureteral reflux.

Boys with penopubic epispadias or the exstrophy-epispadias complex have problems with their anatomy that may make them infertile. In normal young men, the bladder neck is closed when sperm moves from the testicles to the urethra. The bladder neck also assumes a closed position when sperm is ejaculated from that area. In men with penopubic epispadias or the exstrophy-epispadias complex, the bladder neck may not close completely during ejaculation. This allows the sperm to move backwards into the bladder (retrograde ejaculation). This situation may cause problems when a couple is trying to have children. Some of these patients may have poor sperm quality. Furthermore, dorsal chordee and a short, stubby penis may make sexual intercourse difficult. However, improvements in surgical repair have significantly reduced the severity of these problems. Females with epispadias usually are not at risk for infertility since their internal reproductive organs are normal.

What are some treatment options?

The primary goals of treatment of epispadias are to: maximize penile length and function by correcting dorsal bend and chordee; and create functionality and cosmetically acceptable external genitalia with as few surgical procedures as possible. If the bladder and bladder neck are also involved, surgical treatment is required to establish urinary continence and preserve fertility.

Surgical technique in males: There are two popular surgical techniques that achieve these objectives. The first is the modified Cantwell technique, which involves partial disassembly of the penis and placement of the urethra in a more normal position. The second technique and most recent evolution of the modern epispadias repair is the Mitchell technique. It involves complete disassembly of the penis into its three separate components - two corpora cavernosa and a single corpus spongiosum. Following disassembly, the three components are reassembled such that the urethra is in the most functional and normal position and dorsal chordee is corrected. Both techniques provide a straight urethra positioned on the underside of the penis, correction of chordee and an acceptable cosmetic result. The Mitchell technique has a lower complication rate and facilitates bladder and bladder neck repair. Sometimes, boys with the exstrophy-epispadias complex are born with a very small or severely underdeveloped penis. In these situations, surgical reconstruction of the penis is more difficult.

Surgical technique in females: Genital reconstruction in girls with bladder exstrophy is less complex compared to the reconstruction in boys. The urethra and vagina may be short and near the front of the body and the clitoris is in two parts. The internal female structures – uterus, fallopian tubes and ovaries – are normal. If diagnosed at birth, the two parts of the clitoris can be brought together and the urethra can be placed into the normal position. If repaired early enough, lack of urinary control (incontinence) may not be a problem. If the diagnosis is missed or if early repair is not performed, then incontinence can be surgically corrected at the time of diagnosis. If the vaginal opening is narrow in older girls or younger women, reconstruction can be performed after puberty.

Children with the exstrophy-epispadias complex may require surgery to improve the urethral resistance (bladder neck repair) however with newer methods of primary repair at birth almost 1/3 of the patients can achieve urinary control without the need for other procedures. If, however, the child does not potty train normally. There are several different methods to achieve normal urination function. An initial approach might involve injecting a bulking material around the bladder neck so that urine cannot leak from the bladder. Other surgical methods involve more complex procedures, like the creation of a longer urethral tube or wrapping various materials around the bladder neck.

What can be expected after treatment?

An abnormal hole in the urethral tube used to be quite common after a major epispadias repair. With today's technical improvements, this is fairly uncommon with a rate of formation as low as 6 percent. Persistent dorsal chordee is fairly typical with older reconstructive techniques for epispadias. It is now less common with newer treatment techniques. Epispadias repair does little harm to erectile function.

Frequently asked questions:

Can epispadias be prevented?

There is no known prevention.

What is the best time for surgical treatment?

Several leading reconstructive surgeons have championed early repair of epispadias, especially in boys with penopubic or penile epispadias and all girls with the condition. They have demonstrated that there is reasonable increase in the bladder capacity after epispadias reconstruction. A well-developed bladder is a prerequisite for satisfactory urinary control, and early bladder filling and emptying (cycling) may promote bladder growth and storage function. Therefore, if surgery is performed within the first few months of life, the child may have a better chance of having a normal bladder. Until recently epispadias reconstruction was delayed until one year of age, however, some surgeons are advocating very early repair in an effort to achieve better bladder development.