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An epispadias is a rare type of birth defect. It is congenital, which means it is present when a baby is born. The birth defect affects the proper development of the urethra. The urethra is a tubular-shaped organ in the urinary tract through which urine exits the body. This abnormality causes the urethral opening to be placed at an abnormal location.
In males with this condition, the opening of the urethra is generally placed at the top the penis. The urethral opening can also be along the sides and in either location, the opening can extend the length of the entire penis. In female epispadias, the opening of the urethra may be significantly longer, farther back and larger than usual. Male epispadias is unlike hypospadia epispadias, which is a urethral abnormality that only affects males. In this condition the urethral opening is distinctively underneath the penis.
The exact cause of this urethral abnormality is unknown. Scientists have discovered some factors that may contribute to the occurrence of the condition. The urethral opening may be abnormally placed due to an abnormality in the formation of the pelvic bone. Another common cause is exstrophy of the bladder, which is a birth defect where the bladder is generally inside out and protrudes through the abdomen. A person with an epispadias and exstrophy of the bladder has a case of bladder exstrophy epispadias.
Symptoms of this condition can be similar in males and females. The symptoms in males may rely on where the opening is located. Either gender may experience frequent cases of urinary incontinence and urinary tract infections. There may also be a noticeably wide public bone. The genitalia may appear deformed and the urine will usually flow in an abnormal way.
Although this condition is generally noticed upon visual examination, some medical tests are generally performed for additional information. Pelvic x-rays and ultrasounds are usually done and multiple blood samples may be obtained. An intravenous pyelogram (IVP) may also be performed as well. In this test, special x-rays are taken of the organs of the urinary tract, including the bladder, kidneys and ureters.
Surgery is usually done to treat an epispadias. In most cases, individuals with this condition will have surgery performed early in life and commonly as babies. Early surgical intervention may prevent the bladder from becoming involved, if it is not already. Some variation of a urethroplasty is typically done to reconstruct the abnormality. Following surgery, some individuals with this condition may have lingering symptoms such as urinary incontinence.
As someone with experience in this type of birth defect, I want to point out that it's important to keep in mind that long-term management can often help with some lingering issues. By this I mean that some more "conservative" measures might be needed to help with ongoing incontinence issues, sexual functioning and body image concerns. This are things that can be addressed and should not be overlooked.
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