Epispadias

What is Epispadias?

Epispadias is a rare condition where the tube that carries urine out of the body, known as the urethra, does not fully develop. Unlike a similar condition called hypospadias where the urethra is complete but opens near the base of the penis, in epispadias, the urethra is open and exposed on the upper side of the penis. This condition is part of a group of birth defects that affects the urinary and genital organs known as the exstrophy-epispadias complex (EEC).

Boys with epispadias usually have specific physical features such as a short penis that points upward, with the urethral opening located along the upper side of the penis and the foreskin gathered at the underside. Girls can also have epispadias, but it is even more rare. If a girl is born with this condition, she may have a split clitoris, a urinary opening that is too wide, a vaginal opening that is located too far to the front, and a poorly-formed or missing pubic mound. Although rare and typically occurs randomly, this condition can affect both girls and boys, and surgery is usually necessary to restore normal urination and improve the appearance of their genitals.

Epispadias can be diagnosed based on physical examination and doesn’t need special testing. However, it’s associated with other conditions like urinary incontinence (unable to control urine), kidney abnormalities, and appearance-altering issues. Therefore, tests like ultrasound, a special bladder x-ray called a voiding cystourethrogram, pelvic MRI, kidney scan, and lab tests might be needed as part of the care.

The success of surgery to treat epispadias depends on the severity of the original physical abnormalities, how well the individual can urinate, the surgeon’s expertise, and the need for further surgical procedures. Long-term monitoring is necessary to help manage emotional and sexual issues as well as to keep an eye on kidney and bladder function. This might involve periodic imaging and lab tests throughout the individual’s life. Sometimes, multiple surgeries might be needed to manage urinary control, fix complications, and improve the positioning and look of the genitals. Since monitoring of bladder and kidney function is needed throughout life, educating patients and their families is an important part of their care.

What Causes Epispadias?

Epispadias is a type of birth defect that is part of a group of conditions known as Exstrophy-Epispadias Complex (ECC). This group includes birth defects that have to do with the belly and the sexual and urinary organs. Epispadias is the mildest form of ECC and in this condition, a boy’s urinary tube is open on top of the penis or a girl’s urine tube has an opening in the area of the clitoris. Sometimes, this condition may involve a bladder that is open and turned inside out. Even though epispadias is part of the ECC, only less than 10% of all conditions in this group are epispadias.

The cause of ECC, including epispadias, is still not completely understood. However, it is believed that a combination of inherited, developmental, and environmental factors could contribute to these conditions.

ECC conditions occur during the early stages of development in the womb. It has to do with issues affecting a part called cloacal membrane, which is part of the developing belly area. It is supposed to be reinforced with an additional protective layer, but in ECC conditions, this doesn’t happen and it gets ruptured or broken early, leading to these birth defects. The timing and severity of this premature rupture can also affect the type and severity of the defect.

The cloacal membrane is supposed to be made up of three layers, that help form the lower belly muscles and pelvic bones. This structure then combines with another developing part called the urorectal septum, which eventually forms the hindgut and urogenital sinus during the 6th week of pregnancy.

However, if the strengthening layer isn’t developed in time, the cloacal membrane gets weak and unstable, and this can lead to an early rupture. It’s not clearly understood why this happens, but it could possibly be due to an unusually thick or overdeveloped cloacal membrane.

When the cloacal membrane ruptures early, it can result in various ECC birth defects. The earliest and most severe defect is called cloacal exstrophy, while the latest and mild one is epispadias. So, how early the rupture happens can influence how complex the birth defect can be.

For instance, if the cloacal membrane breaks before it fuses with the urorectal septum, it results in cloacal exstrophy, where the lower urinary part and the last part of the gastrointestinal tract are open to the outside. If the rupture occurs after the fusion, it results in classic bladder exstrophy. If the rupture happens late, such as in the case of isolated epispadias, it can affect the urinary sphincter and bladder.

Other theories suggest that ECC could occur due to abnormal development of the pelvic bones, an incorrect position of the genital tubercle, or any issue with the middle layer that prevents normal tissue migration and integration with the cloacal membrane.

Risk Factors and Frequency for Epispadias

Epispadias is a rare birth defect that occurs sporadically during pregnancy. This condition is found in around 2.4 out of every 100,000 babies born. It’s most common in males, with the ratio of males to females being about 1.4:1. However, it’s likely that many more females have this condition than we know of, as it can be hard to diagnose in girls. This condition is most prevalent in Native Americans, while it’s least common in Asian Americans.

There’s still a lot we don’t know about what causes epispadias. What we do know is that risk factors include lack of prenatal care, smoking, and potentially older parents. Taking folic acid supplements during early pregnancy can lower the risk of more serious conditions, but it doesn’t seem to affect the chances of a baby having epispadias.

• Epispadias is present in about 2.4 in every 100,000 live births.
• It’s more common in males, with a male to female ratio of about 1.4:1.
• Diagnosing in females can be challenging, suggesting the true incidence in females may be underreported.
• The highest reported rate is among Native Americans, and one of the lowest rates is among Asian Americans.
• Risk factors include lack of prenatal care, smoking, and potentially advanced parental age.
• Taking folate supplements early in pregnancy may reduce risk of severe conditions, but doesn’t seem to lower the risk for epispadias.

Signs and Symptoms of Epispadias

Epispadias is a condition that is usually evident at birth, and often doesn’t need much testing, except for checking if there are other related abnormalities. In boys, the inner lining of the tube that allows urine to exit the body (urethra) is flat and exposed on the skin below the pubic bone. This condition can be harder to identify from a quick look in both girls and boys with glanular epispadias, and surgeons may only notice it during circumcision.

For girls, epispadias can be even harder to diagnose. Often, it isn’t picked up until a detailed exam is done for delayed toilet training or another issue. In fact, in some girls, epispadias might not be diagnosed until they’re in school or even older, especially if they don’t have issues with incontinence. Prenatal ultrasounds can sometimes pick up abnormal findings, such as not being able to see the bladder and/or genitals, or a lower location of the umbilical cord, which could suggest epispadias.

Urinary incontinence (not being able to control urine flow) can be present with epispadias, and varies in severity. Originally, it was thought for boys that this only depended on where the urethra opened on the penis, but other factors might contribute to incontinence. For girls, incontinence is a common symptom.

The abdominal wall, rectus muscles, belly button, and testicles all have a normal appearance with epispadias. There may be a small gap in the joint in the center front of the pelvis (pubic symphysis) or even a larger gap for those with bladder exstrophy, male patients with incontinence, and isolated epispadias. The joint may widen due to the outer rotation of the pelvic bones, leading to a short penis with an upward curve.

An examination of a boy’s external genitals will reveal a short penis with the opening of the urethra on the top side (dorsal meatus), an upward curve (dorsal chordee), and a foreskin that is overhanging at the bottom. The penis appears shorter due to shortened frontal section, while the back section is normal.

• A shorter urethral plate and an upward curve also contribute to the short appearance of the penis.
• The vas (tubes that transport sperm) and ejaculatory ducts are normal but may be at risk of damage during surgery.

Physical examination of young girls with epispadias will reveal a split clitoris, front-positioned vaginal opening, missing mons pubis (fatty tissue over the pubic bone), small labia minora that are positioned to the side, and a visible bladder neck. More severe cases can have protrusion of the inner lining of some organs (mucosal prolapse). If this condition is part of the EEC syndrome, there may be other visible abnormalities on a physical examination.

Testing for Epispadias

If a doctor suspects a patient has epispadias, they will start by doing a thorough physical exam. Epispadias is a condition that can often come with other anomalies, so additional tests are usually needed.

If the doctor notices something called ‘sacral dimpling’ during the exam, they may order further imaging tests like a spinal ultrasound, CT scan, or MRI. These tests help check for any issues related to the tethering or connection of the spinal cord.

An X-ray is commonly done to check for ‘pubic diastasis’, which is a separation of the pubic bones. When taking this X-ray, a ruler that can be seen on the scan is usually placed on the lower abdomen or upper thighs. This gives the doctors a good reference for size and helps them evaluate the pubic bones clearly.

If the patient is a child with epispadias and they experience incontinence, or lack of bladder control, an ultrasound may be performed. This helps identify any potential congenital anomalies, or issues present since birth, of the upper urinary tract. Sometimes, if the results are unclear, a type of scan called a pelvic MRI may be done for a more detailed view of the soft tissues in the pelvis.

Doctors may also order functional studies such as a ‘VCUG’ (voiding cystourethrogram) or a nuclear scan. These tests assess how well the kidneys are working before any reconstructive surgery. People with epispadias often have ‘vesicoureteric reflux’, meaning urine flows backward from the bladder into the kidneys. In other words, the prevalence of this condition increases if the patient has bladder-neck involvement and incontinence.

Before any surgery for treating epispadias, doctors will check if the patient has dry periods, or times when they don’t experience incontinence. Not having these dry periods could mean that there is an issue with the bladder neck’s function. In such cases, further tests like a VCUG, urodynamics (which study how the bladder and urethra are storing and releasing urine), or a cystoscopy (a test that allows the doctor to look at the inside of the bladder and urethra), may be performed.

Treatment Options for Epispadias

Epispadias is a rare and complex condition that often requires surgical treatment, and so it is usually recommended that patients be referred to highly specialised medical centres for care. The aim of the surgery is to fix any bending in the penis (known as dorsal chordee), rebuild the tip of the penis (the glans) and the tube through which urine and semen pass (the urethra), and adjust and extend the corpora (the two tubes running along the length of the penis that fill with blood during an erection). The surgery also wants to create a good cosmetic result while keeping the blood supply healthy and avoiding harm to associated normal structures such as the vas deferens (the tube carrying sperm from the testicles to the urethra).

Surgical treatment is typically done when the child is at least 1 year old to reduce the risk of anaesthesia, but some recommend it be done earlier, around 6 to 12 months old. Surgery should ideally be completed before the child starts toilet training. The type of surgery used can be divided into two main forms: staged repair, where surgery is completed over multiple procedures, and complete repair, where the surgery is done in one go. For cases of epispadias where it’s just the urethra that’s affected, the repair is often done in one procedure. In more complex cases, such as bladder exstrophy, the urethral and genital reconstruction is done with several other procedures.

All epispadias repairs deal with four components: correcting the bending of the penis, dissecting and moving the corpora, rebuilding the urethra, and rebuilding the tip of the penis. There are many ways to do this, but two common approaches include the modified Cantwell-Ransley repair and the Mitchell repair. The Cantwell-Ransley method starts with releasing the bending of the penis through mobilisation of the urethral plate, and tubularising the urethra. Any remaining bend in the penis is then corrected. The Mitchell approach involves complete disassembling and rebuilding of the penis.

Compared to the Cantwell-Ransley method, the Mitchell method can offer several theoretical advantages such as positioning the urethra more efficiently, and correcting the bending and rotation of the penis more effectively . But it also comes with increased risks, particularly the potential for limited blood supply to the gland or even complete loss of penis tissue due to lack of blood.

In girls, the repair of epispadias generally follows similar surgical principles but is usually less complicated than male reconstruction. It can typically be done through a two-stage surgery, although a single-stage process is also available. Surgical techniques also include mobilising the urethra, bladder neck, and vagina to perform the repair work and, if necessary, approximating pubic bones.

Often bladder-related surgery is postponed until the bladder reaches a certain size to achieve a higher rate of urinary continence (ability to store and control urine). Most patients with penopubic epispadias (where the opening of the urethra is located on the upper surface of the penis or clitoris) will eventually need bladder neck surgery to become continent. However, the patient’s degree of continence is not always correlated with the degree of epispadias.

What else can Epispadias be?

Epispadias is the mildest condition within a group of disorders known as Exstrophy-Epispadias Complex (EEC). Sometimes, it could be a part of more severe issues that affect bladder and digestive organs. It’s common for people with bladder exstrophy, cloacal exstrophy, and epispadias to have pubic diastasis, which is a widening gap between the two halves of the pubic bone.

The most extreme type of EEC is cloacal exstrophy. Often diagnosed before birth, this condition affects both the urinary and digestive systems. It occurs due to these systems not developing fully. Major signs of cloacal exstrophy can include several abnormalities, such as a ‘split’ belly button and male genitalia, a bladder that is presented in two halves, a segment of the small intestine that pokes outwards, the anus not having an opening, widened pubic bones and spine issues.

Another member of the EEC, bladder exstrophy, presents with somewhat similar but less severe issues in the same organs.

Several concerns can be seen especially in bladder exstrophy:

• Pelvic organs like the bladder, rectum, urethra, and vagina are displaced towards the front.
• The pubic bones are widely spaced, and the front and back pelvic bones are externally rotated.
• The bladder pokes outward on the front abdominal wall, at varying degrees from a portion to the complete bladder.
• The urinary tract openings are usually visible.
• The rectal opening is positioned towards the front, with some patients having an anus that remains open.
• In females, the opening of the vagina is positioned towards the front, with a split clitoris. There might be instances of a double vagina or uterus.
• In males, the penis is small and stubby with a curve at the top. The tip of the penis may seem squashed or flattened with separate bodies. The testicles might not descend as they should. Double-sided inguinal hernias can also occur.

Hypospadias is another condition where the urinary tract opening is not at the tip of the penis. Although it occurs at birth in males, it doesn’t involve EEC, as it features a ventral opening, ventral curve, a hood-like foreskin at the tip, and devoid of pubic diastasis. The penis length is usually normal in this case.

Additionally, common urogenital sinus, a disorder of sexual differentiation, is often misdiagnosed as female epispadias. The urinary tract opening may seem like a single opening in the vestibule (entry to the vagina), but an intense examination reveals that the vaginal opening is placed towards the front.

What to expect with Epispadias

The aims of fixing epispadias, a birth defect of the pee tube (urethra), are to help the patient control urination (stay dry), improve the appearance of the genital area, and maintain normal sexual function. Urine control rates after this fix vary, with different surgical centers around the world reporting rates between 50% to 90%. In boys, urine control may depend partly on the specifics of their epispadias. Boys with abnormalities at the top part of their urethra and a weak valve at the bladder’s exit tend to have this defect more often. For girls who have epispadias fixed, dryness rates also vary, and are usually between 60% and 80% during the day. However, staying dry overnight is less successful for both boys and girls, with rates below 50%.

Surgery seeks to restore a normal-looking genital area and keep sexual functions intact. Reports vary regarding satisfaction with the result of the surgery and fertility after genital reconstruction for epispadias, particularly in males. But most patients appear to be reasonably satisfied with the outcomes. A lot of these patients also need to be regularly checked throughout their adult life for any changes or decline in the function of the upper urinary tract (the part of the urinary system that carries urine from the kidneys to the bladder), which might occur due to issues like a blocked outlet from the bladder.

Possible Complications When Diagnosed with Epispadias

The chances of complications due to surgery are affected by many factors. These can include the health of the patient’s tissues, the need for multiple surgeries, any abnormal anatomical structures, and the level of surgical skill. A common complication of surgery for epispadias, a genital birth defect, is the formation of a fistula (an abnormal connection) between the urethra and the skin. This occurs in approximately 13% to 18% of all cases.

Potential complications can include:

• Problems with blood supply to the penis, potentially leading to tissue death. This risk is especially high with the Mitchell-Bagli technique, which completely disassembles the penis during surgery.
• Continued curvature of the penis, which can be prevented or treated by carrying out certain surgical procedures to reposition the bodies of the penis.
• A persistent short length of the penis, which can be addressed by releasing specific anatomical bands and extending the surgical dissection to the neck of the bladder.

Even more severe complications can be:

• Partial or complete loss of the penis after surgery, which can be caused by unusual blood supply patterns, combined with the fragile blood supply in newborn babies
• Tight closure of the urethral plate, which can significantly increase resistance at the outlet of the bladder and potentially cause damage to upper parts of the urinary tract.
• The shortage of urethral plate, which can sometimes occur during penile disassembly surgery. To address this, surgeons may perform a specific technique using the foreskin.

Other complications can involve:

• Narrowing and blocking of the urethra, which can result from improper tissue handling and disruption of the blood supply during surgery. This may require further surgery to replace the urethra.
• Formation of a fistula between the bladder and the skin, often following initial closure of the bladder during surgery.
• Wound complications: Complex multiple surgeries can lead to scarring, decreased elasticity, and reduced blood supply in the tissues. Each subsequent operation increases the risk for poor blood supply, leading to slow healing and further complications.

Recovery from Epispadias

The kind of post-surgery care you require largely depends on the complexity of your surgery. However, the three key elements to care after any surgery include reducing the risk of infection, protecting the blood supply, and taking care of your skin around the area of the operation. In some unique situations, other additional measures need to be taken:

1) Bladder spasms: If feasible, a medication that helps relax the bladder muscles (an oral anticholinergic) should be started. This oral anticholinergic helps to ease bladder spasms and provides local anesthesia to the bladder.

2) Immobilization of the lower body: In case you’ve had surgery involving your bones (known as osteotomy), it’s very important to keep your legs still as they heal. Some doctors might recommend a special kind of body cast (known as a hip spica) after the surgery, regardless of whether an osteotomy was performed or not.

3) Catheters: If a tube was inserted into your body to remove urine (catheter) during the surgery, it’s essential to keep it sterile to prevent any infections. Doctors usually recommend a self-retaining catheter in these cases.

4) Infection Prevention: Even after the surgery, you may need to continue taking antibiotics to prevent potential infections.

5) Managing Pain: Controlling postoperative pain is vital for your comfort and recovery. Many hospitals use a form of pain relief called ‘epidural analgesia’ immediately after surgery. If you feel intermittent pain, you can be relieved with intravenous painkillers.

Preventing Epispadias

To prevent the birth defect known as epispadias, steps include focusing on changes that can be made (modifiable risk factors), and promoting healthcare during pregnancy (prenatal care). Encouraging women of childbearing age to lead healthy lifestyles, like avoiding tobacco and alcohol, eating a healthy diet, and managing ongoing health issues can help lower the risk of epispadias in their children. Early screenings and checks for abnormalities via ultrasound scans during pregnancy allow healthcare professionals to talk with parents about what treatment options are available and what the possible outcomes could be, helping them to make informed choices.

Epispadias is the least serious type of birth defect within a group known as EEC. Therefore, Children with epispadias will face fewer health issues compared to those with more severe forms of EEC such as bladder or cloacal exstrophy. More successful outcomes in terms of continent (ability to control urine) are achieved when seasoned surgeons carry out the restorative procedure. Due to the rarity of epispadias, it’s recommended that majority of the surgical procedures should be done only in specialized medical centers due to the complexity of the surgery.

Routine screenings may be suggested to routinely check the function of the kidneys, bladder, and other parts of the urinary system. It’s also important for the patients and those who care for them to fully understand how to manage any urinary catheter that may be in place either permanently or occasionally. As they grow older, these individuals may need to consult with experts about problems related to fertility and sexual functioning.