What is epispadias?

Epispadias is a rare birth defect located at the opening of the urethra. In this condition, the urethra does not develop into a full tube, and the urine exits the body from an abnormal location. The causes of epispadias are unknown. It may be related to improper development of the pubic bone. In boys with epispadias, the urethra generally opens on the top or side of the penis rather than the tip. However, it is possible for the urethra to be open along the entire length of the penis. In girls, the opening is usually between the clitoris and the labia but may be in the belly area.

Epispadias can be associated with bladder exstrophy, an uncommon birth defect in which the bladder is inside out and sticks through the abdominal wall. However, epispadias can also occur with other defects. Epispadias occurs in one in 117,000 newborn boys and one in 484,000 newborn girls. The condition is usually diagnosed at birth or shortly thereafter.

Symptoms

In males:

• Abnormal opening from the joint between the pubic bones to the area above the tip of the penis

• Backward flow of urine into the kidney (reflux nephropathy)

• Short, widened penis with an abnormal curvature

• Urinary tract infections

• Widened pubic bone

In females:

• Abnormal clitoris and labia

• Abnormal opening from the bladder neck to the area above the normal urethral opening

• Backward flow of urine into the kidney (reflux nephropathy)

• Widened pubic bone

• Urinary incontinence

• Urinary tract infections

Diagnosis

• Blood test to check electrolyte levels

• Intravenous pyelogram (IVP), a special X-ray of the kidneys, bladder and ureters

• MRI and CT scans, depending on the condition

• Pelvic X-ray

• Ultrasound of the urogenital system

Treatment

Surgical repair of epispadias is recommended in patients with more than a mild case. Leakage of urine (incontinence) is not uncommon and may require a second operation. Surgery generally leads to the ability to control the flow of urine and a good cosmetic outcome. Persistent urinary incontinence can occur in some people with this condition even after several operations. Upper urinary tract (ureter and kidney) damage and infertility may occur.
 

References

1. Gearhart JP, Mathews R. Exstrophy-epispadias complex. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 119.

2. Elder JS. Anomalies of the bladder. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 541.