Typically, isolated epispadias is diagnosed shortly after birth by physical exam. If epispadias is associated with bladder exstrophy, it may be diagnosed prenatally by ultrasound.
Timing of surgical correction depends on clinical severity, but generally penile reconstruction happens electively when patient is older than 6 months of age.
Epispadias falls under the spectrum of bladder exstrophy-epispadias complex, or a condition involving the lower areas of the pelvis where there is a midline fusion defect. Epispadias specifically refers to the abnormality of the urethra opening, in which it does not develop in the correct spot in the genital area. It can affect both males and females, whereas with males the opening of the urethra forms on the top of the penis, and in females the urethra opening forms closer than normal or further up above the clitoris. Untreated epispadias can lead to the child’s genital and urinary system not functioning normally, urinary incontinence, and/or external genitals that do not look normal.
Causes of Epispadias
- Epispadias is a congenital defect that develops while a baby is still in the uterus as a result of hormonal malfunction. There are specific hormones that activate the formation and growth of the urethra and where it opens up. When there is a problem with the actions of those hormones, anatomy variants such as epispadias can occur.
- Aside from the gene variations that can interrupt the normal process of these hormones, familial history of epispadias and other defects of the urethra can increase the risk of a child developing it as well.
- In addition, the abnormalities of other organs in the lower pelvis can lead to the abnormal formation of the urethra. In fact, it is fairly common for epispadias to occur with other anatomic abnormalities and less common for it to occur alone.
Symptoms of Epispadias
Symptoms of untreated epispadias can include:
- Difficulty controlling urination
- Frequent urinary tract infections
- Urine backup in the bladder and kidneys
For males, irregular spraying of urine flow, an irregular curvature of the penis, and frequent urine leakage with coughing, laughing, and sneezing may all be signs of epispadias.
Treatment of Epispadias
The only available treatment of epispadias, aside from treating the symptoms it causes, is a surgical procedure to correct the position of the urethra. Depending on the severity of the epispadias, multiple surgeries may be required. Ultimately, the objective of the surgery is to ensure that the external genitals look normal and function properly both internally and externally. There are two frequently used surgery treatments for male epispadias at UCI Pediatric Urology: the Modified Cantwell-Ransley Technique and the Mitchell Technique.
- The Modified Cantwell-Ransley Technique is used in minor to moderate cases as it only requires reconstruction for a portion of the penis.
- The Mitchell Technique is used for moderate to severe cases of male epispadias, because it involves reconstructing the penis entirely with the urethra in the right position. This is generally used for surgery in the setting of concomitant bladder exstrophy.
- Treatment is generally different for females and can involve external repositioning of the urethra in proximity to the clitoris.