Causes and risk factors
It occurs in about 1 in 50,000 newborns. It is more common in males than in females (male:female ratio is 5:1).
Epispadias is the result of abnormal development of the urethra during intrauterine life. The causes of this abnormality are unknown.
Which are the symptoms?
In addition to the abnormal appearance of the external genitalia in the more severe forms in men, there is urinary incontinence in women.
How is it diagnosed?
The diagnosis is obvious from birth. A specialized examination by a pediatric urologist can determine the severity of the disease.
To get a complete picture, it is also necessary to carry out certain diagnostic examinations, such as:
- ultrasound of the urinary tract to assess the presence of any abnormalities of the urinary tract;
- x-ray of the abdomen without contrast agent. This is a simple abdominal x-ray to assess whether epispadias is associated with pelvic bone enlargement: the more severe the epispadias, the more likely the enlargement;
- cystography to examine the anatomy and function of the bladder and urethra. It is also used to check for the presence of vesicoureteric reflux. The examination involves inserting a catheter into the bladder, filling the bladder with a contrast agent, and taking several x-rays while the bladder is filling.
How is it treated?
Treatment is surgical. Usually, especially in the most severe forms, several reconstructive surgeries are required. These operations are considered major surgical interventions and have the following goals:
- reconstruction of the missing urethra with the child’s own tissues, which will grow with the child;
- achievement of continuity of urination;
- correction of the aesthetic and functional aspects of the external genitalia.
Since surgical techniques are complex, they must be performed in specialized centers, and the results depend largely on the level of specialization of the treatment center.