An Overview of Epispadias

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Epispadias is a rare congenital urological birth defect. In simple terms, epispadias is a condition that is present at birth and affects the urinary tract and alters the way urine exits the body. More common in boys than girls, epispadias appears in about one in 100,000 males and about one in 480,000 females.

Types

Epispadias can occur alone but is far more commonly present with one or more other conditions ranging from additional alterations in the way urine exits the body to more severe urological problems, bladder issues, pelvic floor problems, incomplete abdominal wall formation, or even an oddly located anus. This wide range of epispadias-related conditions is referred to as the exstrophy-epispadias complex.

Exstrophy-Epispadias Complex

To be clear, the term “epispadias” refers to the problem with the area of the genitals where urine exits and is the visible portion of the defect that usually leads to a diagnosis based on appearance.

About 10 percent of patients with epispadias have this issue and no additional problems. The other 90 percent of patients have exstrophy-epispadias complex, which means epispadias is present plus an additional related issue. These additional issues can be obvious, such as the bladder being visible through the abdominal wall, or may be internal and are found after diagnostic testing.

Exstrophy-epispadias complex is far more common than epispadias alone, affecting as many as one in 30,000 babies. In these children, the external alteration in the genitalia is present along with some other alteration in the urinary tract, abdominal muscles, spinal cord, or intestine. 

Bladder exstrophy is one of the more common conditions found with epispadias and can be diagnosed during pregnancy. This condition is caused by an incomplete closure of the abdomen, allowing the bladder to be seen, rather than covered with the skin and muscles of the abdomen. 

Other conditions that commonly appear with epispadias are small genitalia, the pubic bones not meeting, pelvic floor alterations, the anus out of typical position, and inguinal hernia.

These issues appear together because they are formed during the same period of fetal development in the womb. These different areas form at about the same stage of development, so a disruption during this important time in pregnancy can lead to issues with multiple areas of the body that are in development at the same time. 

Types of Male Epispadias

The opening in the penis where urine exits the body is called the urinary meatus. Normally, this opening is at the tip of the penis, but in epispadias, this opening appears along the top of the penis. Where along the top of the penis the opening is found dictates the type of epispadias that is present.

  • Penopubic epispadias: This is where the urinary meatus is found close to the body, potentially not on the penis but near the pubic bone at the base of the penis.
  • Penile epispadias: The urinary meatus is found on the shaft of the penis, anywhere before the head of the penis but above the base where the shaft meets the body.
  • Glanular epispadias: This is where the urinary meatus is found on the head of the penis, but on the top rather than in the standard location at the tip.

Female Epispadias

In girls with epispadias, the clitoris is divided into two parts by the urethra, with this abnormal split causing urinary incontinence. It is rarely found without other additional issues affecting the bladder, kidneys, or urethra. This condition is found with an abnormal space between the pubic bones that is not present in normal anatomy.

This condition can be found with other issues, such as a shortened vagina that may require stretching to accommodate sexual intercourse in adulthood, exposed bladder or urethra, and other conditions affecting urination.

Symptoms

In many cases, epispadias is diagnosed by a healthcare provider at birth due to the abnormal appearance of the genitals in the newborn. In mild cases, where the urinary meatus is slightly out of normal position, the condition may be overlooked until there is difficulty with potty training or urinary incontinence that is noted after potty training is complete. 

Some children will experience stress incontinence, where urine dribbles after a sneeze or cough, or may find that when they have the urge to urinate they are unable to hold it until they reach the bathroom. A genital examination is often part of the process of diagnosing the cause of incontinence and may lead to the diagnosis of epispadias.

Diagnosis

Epispadias is typically diagnosed, at least initially, by the appearance of the genitalia shortly after birth. This diagnosis often triggers additional tests to determine if additional areas of the urinary tract are involved. That may mean labs to check the function of the kidneys, urine tests, imaging studies including ultrasound or CT scans, X-rays, and potentially multiple urological tests to visualize the inside of the urinary tract may be done. If the large intestine is involved, colonoscopy or other procedures to check the spinal cord may be necessary.

In more severe cases that involve the bladder or spine, a diagnosis can potentially be made in utero during routine ultrasound examinations. In this case, the parents may receive counseling and education about epispadias and the other conditions that are present, and the delivery is typically scheduled at a facility that can provide immediate care by a pediatric team that is able to care for the infant appropriately.

Causes

Epispadias is caused by an alteration in development during a specific stage of pregnancy when the urinary tract is forming. It is often difficult or impossible to know what caused the fetus to not develop correctly during those particular days of development. In the vast majority of cases, there was no obvious problem with the mother or the pregnancy.

Risk Factors

Males are four times more likely to have epispadias than females. Caucasian firstborn children are also more likely to be born with this condition. The chances of epispadias is dramatically higher in the children of an individual born with epispadias, with a 1 in 70 chance of the child being born with this type of congenital issue.

Risks and Related Conditions

Epispadias is more than a cosmetic issue for the vast majority of children who have this problem. The condition frequently causes urinary incontinence, which can mean occasional or constant dribbling of urine, accidents and significant embarrassment for the child. 

In males, epispadias is often seen with chordee, a condition that causes the penis to have a notable curve. More significant is the potential for unseen issues with internal organs that are less obvious than the appearance of the genitals. Approximately 90 percent of all epispadias patients have additional issues.

Epispadias vs. Hypospadias

Hypospadias, like epispadias, is a congenital birth defect where the location that urine exits the body from is abnormal. In boys, hypospadias means that the urinary meatus is located on the underside of the penis, rather than at the tip of the penis. The meatus may be slightly lower than usual on the head of the penis, located on the shaft of the underside of the penis or even near the scrotum. Hypospadias is very rare in females, with the urinary meatus being on the vaginal wall instead of in the typical location, and is often overlooked until the patient has urinary difficulties leading to diagnosis or a urinary catheter cannot be placed.

Circumcision and Epispadias

If epispadias is present, circumcision should be avoided until successful surgical repair has been completed. This is because the extra tissue of the foreskin can be utilized during surgical repair to recreate the penis, and may be essential for the surgeon to make a complete repair. Once the child has been treated successfully, circumcision can be considered, but until that time it is strongly recommended that circumcision not be done.

Surgery

The risks of all surgeries include the general risks of surgery and the risks associated with the administration of general anesthesia. In the case of epispadias repair, the risks vary with the severity of the issue and the nature of the repair. In general, the risk of urinary incontinence is high, as many individuals already have this condition prior to surgery, and the hope is that surgery will fix the incontinence. 

Urinary tract infections, fistulas, hypospadias and penis injury are common risks. In individuals with bladder involvement, bladder stones and bladder perforations are additional risks. 

For some male patients, the surgical correction for epispadias and urine coming out on the top of the penis may lead to hypospadias, and urine coming out from the underside of the penis after reconstruction has healed. This can be corrected, if necessary, and may or may not be a serious issue.

Before Epispadias Surgery

Significant testing is typically done after a diagnosis of epispadias to determine if the defect is present in other areas of the abdomen, pelvis, colon and urinary tract. These tests determine the nature of the problem, and dictate the surgical treatment course. 

If the bladder or other areas are exposed when they are typically covered with skin, the initial procedure to close these areas is often performed when the patient is still a newborn. Other bladder issues may wait until 4 or 5 years of age.

Patients who have epispadias limited to the genitalia may be treated with one surgical procedure, but patients with other issues may have a treatment plan that includes multiple stages of surgical procedures. The genitalia repair may be done as early as six months of age, and is typically completed by a year.

The wide variety of issues that can be present with epispadias means that treatment plan is unique for every child, and while specific procedures may be planned at specific ages, but the plan may be altered depending on the success of the previous procedure.

Surgeries To Treat Male Epispadias

There are two surgeries that are typically done to treat epispadias in males, the Mitchell technique and Cantwell technique, which are often modified by surgeons to meet the needs of the patient.

Surgery can vary widely from patient to patient, but the general steps of the procedure are essentially the same. Once general anesthesia is given, the surgery begins with the disassembling of the penis into three separate sections of tissue. The urethra (urine tube) is reconstructed, using a procedure called urethroplasty. This allows the urethral meatus (urine opening) to be moved into the correct location. This repair of the urethra also allows chordee, the curve in the penis, to be straightened. 

The penis is then reassembled using surgical sutures. The patient will leave the operating room with a urinary catheter in most cases.

Surgery To Treat Female Epispadias

Once general anesthesia is given, the procedure typically begins with freeing the urethra from the adjoining tissue of the clitoris. This allows the urethral meatus, the opening from which urine exits the body, to be moved to the appropriate place. The clitoris, which is normally one piece of tissue but is divided in cases of epispadias, is able to be sewn together for a normal appearance. A foley catheter is placed prior to the end of surgery and remains in place when the surgery is complete.

Recovery From Epispadias Surgery

The typical patient recovers from epispadias surgery quickly, returning home within a day or two of surgery. The more complicated bladder repairs often require a longer recovery and stay in the hospital, and may be one of multiple surgeries to achieve continence. 

Life After Epispadias Repair

The goal of surgery for epispadias is to create a urinary tract with normal function and appearance, which means urinary continence, as these congenital issues can result in chronic dribbling of urine. Most patients are able to achieve normal urinary function, but may require more than one procedure to achieve continence depending on the severity of the issue and if the bladder is affected.

Long-Term Risks

Long-term, typically in adulthood, the patient will be at higher risk of developing the following conditions:

Sexual Function After Epispadias Surgery

Sexual function is typically normal after completing epispadias repair even when additional repairs are required. Men may have a decrease in sperm count or low ejaculate volume that results in reduced fertility but not sterility.

In one small study of 28 female patients with epispadias with bladder exstrophy who wanted to conceive, 19 became pregnant with a total of 57 pregnancies. These women were at higher risk for postpartum hemorrhage. Additionally, one woman experienced ureteral damage and one experienced a fistula after delivery.

The vast majority of patients are able to have a normal and healthy life, including marriage, employment, and raising a family. These patients typically continue to see urology throughout their adult life, as there is the possibility of complications that arise later in life.

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