Exstrophy and epispadias complex are severe congenital anomalies of the urogenital system. These conditions often occur together, requiring a complex treatment process.

Exstrophy refers to the failure of the bladder, abdominal wall muscles, and even the pubic bones to fuse in the midline, resulting in the bladder being exposed outside through the abdominal wall. It is more common in males and frequently occurs alongside epispadias. Epispadias is a condition where the urinary opening is located on the dorsal (upper) surface of the penis, near its base.

In females, exstrophy can occur alone without epispadias. The incidence of the exstrophy-epispadias complex is very low, approximately 1 in 30,000 births.

Symptoms

Exstrophy and epispadias complex are usually diagnosed during pregnancy. Since these conditions may be associated with other anomalies related to the heart and urological system, babies diagnosed with exstrophy/epispadias should be evaluated for other systemic pathologies. If not diagnosed prenatally, the condition is identified at birth by the visible bladder on the abdominal wall. In male infants, the urinary opening is located on the dorsal surface of the penis, accompanied by epispadias. Both male and female infants often have underdeveloped external genitalia (penis, clitoris, labia), which appear abnormal.

Treatment

Surgical intervention should be performed within the first 48-72 hours after diagnosis. This allows the bladder, pelvic bones, and abdominal wall to be approximated at the midline. Delayed diagnosis or treatment may necessitate cutting and repositioning the pelvic bones for repair. Therefore, it is crucial that suspected cases of this rare condition are referred during pregnancy to specialized centers equipped with obstetrics-perinatology, neonatal intensive care, and pediatric surgery services.

Surgery is planned as either a single-stage or staged procedure, depending on the severity of the exstrophy/epispadias complex and the overall condition of the infant. Both methods have similar outcomes, and the decision on which approach to use should be made by experienced multidisciplinary teams.

Long-term follow-up after surgery is essential because, in addition to anatomical correction, protecting kidney function is critically important. If left untreated, the condition can lead to irreversible kidney damage, urinary incontinence, and life-threatening urinary tract infections.

Early concern of physicians and families focuses on preserving kidney function, which is achievable through timely and appropriate treatment. Later in life, urinary incontinence is the most common problem in these children due to congenital anatomical and functional abnormalities of the bladder. Unfortunately, even with proper treatment, this occurs in up to 50% of cases. Additional surgical interventions may be necessary to help children achieve continence. These options should be discussed with the family and child to ensure that the child’s school and social life are not disrupted while protecting kidney health.

The treatment of exstrophy and epispadias complex is complex and multi-staged. Early diagnosis and appropriate surgical intervention are critical to improving long-term health outcomes. If there is suspicion of this condition during pregnancy or if the complex is identified in a newborn, prompt referral to a center capable of multidisciplinary management is essential.

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