Epispadias is a rare type of birth defect, meaning it appears during pregnancy and is present at birth, which affects the normal development of the urethra, the tube through which urine is evacuated from the bladder to the outside of the body. The most prominent feature of epispadias is the abnormal location of the urinary meatus (the external opening of the urethra), which appears higher than normal. It has a relatively low epidemiology; It occurs in approximately 1 in 120,000 men and 1 in 500,000 women.
Epispadias appears in both sexes, male and female. In the case of males, the urinary meatus usually appears at the top of the glans and not at the tip. It can also appear on the side of the glans and, less frequently, in other locations superior or lateral to the penile trunk. It is common for it to be accompanied by a short, enlarged penis with an abnormal curvature. It should not be confused with hypospadias, a congenital malformation that affects only males and is characterized by the location of the urinary meatus in the lower part of the glans or trunk of the penis, with cases in which it even appears at the union between the penis and scrotum.
In the case of female epispadias, the urinary meatus is located in higher positions than normal, even in the abdominal region, and may be significantly elongated. It is often accompanied by abnormal clitoris and labia.
most prominent symptoms
The symptoms and consequences of epispadias are very similar in both sexes. The most common are urinary incontinence and urinary tract infections. It is also common for urine to flow back into the bladder and even the kidney (reflux nephropathy), which favors the development of infections and other kidney problems. A noticeably wider pubic bone is also often seen. Abnormal flow of urine can also make the genitals look misshapen.
In addition to the physical symptoms, psychological effects They are usually quite important, especially during adolescence and early adulthood.
The exact causes of this urethral malformation are unknown. It is produced by defective migration of the genital tubercle towards the cloacal membrane in the fifth week of gestation. In addition to appearing in isolation, epispadias also appear in what is known as the epispadias exstrophy complex, a set of malformations associated with failures during pelvic and abdominal fusion during the first few months of embryogenesis. In these cases, bladder exstrophy also appears, a malformation that causes the bladder to develop from the inside out and usually protrudes from the abdominal wall.
Epispadias is usually detected by optical examination after birth. However, additional tests are usually done to obtain information about other possible internal malformations and related issues. These additional tests often include:Pelvic X-ray X-ray genital ultrasound Intravenous pyelography (IVP) of kidneys, bladder and ureters blood tests In some cases CT and MRI
Surgery is the most common treatment for epispadias and the most effective. In most cases, surgery is performed during the first few years of life, even when the patient is a baby. This early surgical intervention prevents further complications as well as the resulting psychological problems.
o urethroplasty It is the intervention performed in most cases, and a second intervention may be necessary for the complete reconstruction of the genitals to improve their appearance. After the intervention, some patients may have persistent symptoms, especially urinary incontinence.
Complications that appear most frequently are persistent urinary incontinence, even after surgical treatment, sterility, damage to the ureters and kidney damage.