Definition
Epispadias is a rare congenital (present from birth) defect in the location of the opening of the urethra.
Causes, incidence, and risk factors
The causes of epispadias are unknown at this time. It is believed to 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 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 exposed, inside out, and sticks through the abdominal wall. However, epispadias can also occur alone or with defects.
Epispadias occurs in 1 in 117,000 newborn boys and 1 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 where the 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
Signs and tests
- Blood test to check electrolyte levels
- Intravenous pyelogram (IVP), a special x-ray of the kidneys, bladder, and ureters
- 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.
Expectations (prognosis)
Surgery generally leads to the ability to control the flow of urine and a good cosmetic outcome.
Complications
Persistent urinary incontinence can occur in some persons with this condition even after several operations.
Upper urinary tract (ureter and kidney) damage and infertility may occur.
Calling your health care provider
Call your health care provider if you have any questions or concerns regarding your child's genitourinary tract appearance or function.
Reviewed By: Deirdre O’Reilly, MD, MPH, Neonatologist, Division of Newborn Medicine, Children’s Hospital Boston and Instructor in Pediatrics, Harvard Medical School, Boston, Massachusetts. Review Provided by VeriMed Healthcare Network.
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