Epispadias

Answer 1

Definition

Epispadias is a rare congenital (present from 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.

Causes, incidence, and risk factors

The causes of epispadias are unknown at this time. Itmay 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 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
• 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.

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.

References

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

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.

Answer 2

Definition

Hypospadias is a somewhat common birth (congenital) defect in which the opening of the urethra is on the underside, rather than at the end, of the penis.

See also: Epispadias

Causes, incidence, and risk factors

Hypospadias affects up to 4 in 1,000 newborn boys.

Some cases are passed down through families. In other cases the cause is unknown.

Symptoms

The condition varies in severity. In most cases, the opening of the urethra is located near the tip of the penis on the underside. More severe forms of hypospadias occur when the opening is at the midshaft or base of the penis. Occasionally, the opening is located in or behind the scrotum.

Males with this condition often have a downward curve (chordee) of the penis during an erection. (Erections are common with infant boys.)

Other symptoms include:

• Abnormal spraying of urine
• Having to sit down to urinate
• Malformed foreskin that makes the penis look "hooded"

Signs and tests

A physical examination can diagnose this condition. Imaging tests may be needed to look for other congenital defects.

Treatment

Infants with hypospadias should not be circumcised. The foreskin should be preserved for use in later surgical repair.

Surgery is usually done before the child starts school. Today, most urologists recommend repair before the child is 18 months old. During the surgery, the penis is straightened and the hypospadias is corrected using tissue grafts from the foreskin. The repair may require multiple surgeries.

Expectations (prognosis)

Results after surgery are typically good. In some cases, additional surgery is needed to correct fistulas or a return of the abnormal penis curve.

Complications

If hypospadias is untreated, a boy may have difficulty with toilet training and problems with sexual intercourse in adulthood. Urethral stricturesand fistulas may form throughout the boy's life, requiring surgery.

Calling your health care provider

Typically a child is diagnosed with hypospadias shortly after birth. Call your health care provider if you notice that your son's urethral opening is abnormally located or that his penis becomes curved during erection.

References

Borer JG, Retik AB. Hypospadias. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 125.

Elder JS. Anomalies of the penis and urethra. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 544.

Answer 3

Definition

Epispadias is a rare defect that is present at birth (congenital). It is located at the opening of the urethra.

In this condition, the urethra does not develop into a full tube. The urine exits the body from the wrong place.

Causes, incidence, and risk factors

The causes of epispadias are not known. It may occur because the pubic bone does not develop properly.

Epispadias can occur with bladder exstrophy. In this rare birth defect, the bladder is inside out and sticks through the abdomen wall. Epispadias can also occur with other birth defects.

Epispadias occurs in 1 out of every 117,000 newborn boys and 1 in 484,000 newborn girls. The condition is usually diagnosed at birth or soon afterward.

Symptoms

Males usually have a short, wide penis with an abnormal curve. The urethra usually opens on the top or side of the penis instead of the tip. However, the urethra may be open along the whole length of the penis.

Females have an abnormal clitorus and labia. The opening is usually between the clitoris and the labia, but it may be in the belly area. They may have trouble controlling urination (urinary incontinence).

Signs and tests

Signs include:

• Abnormal opening from the bladder neck to the area above the normal urethra opening
• Backward flow of urine into the kidney (reflux nephropathy)
• Urinary incontinence
• Urinary tract infections
• Widened pubic bone

Tests may include:

• Blood test
• 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 urinary system and genitals

Treatment

Patients who have more than a mild case of epispadias will need surgery.

Leakage of urine (incontinence) can often be repaired at the same time. However, a second surgery may be needed.

Expectations (prognosis)

Surgery can help the person control the flow of urine. It will also fix the appearance of the genitals.

Complications

Some people with this condition may continue to have urinary incontinence, even after surgery.

Ureter and kidney damage and infertility may occur.

Calling your health care provider

Call your health care provider if you have any questions about the appearance or function of your child's genitals or urinary tract.

References

Gearhart JP, Mathews RI. Exstrophy-epispadias complex. In: Wein AJ, ed. Campbell-Walsh Urology. 10th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 124.

Elder JS. Anomalies of the bladder. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics.19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 535.

Reviewed By

Review Date: 10/18/2011

Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine; Scott Miller, MD, Urologist in private practice in Atlanta, Georgia. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Answer 4

Definition

Hypospadias is a birth (congenital) defect in which the opening of the urethra is on the underside, rather than at the end, of the penis.

See also: Epispadias

Causes, incidence, and risk factors

Hypospadias affects up to 4 in 1,000 newborn boys.

Some cases are passed down through families. In other cases the cause is unknown.

Symptoms

The condition varies in severity. In most cases, the opening of the urethra is located near the tip of the penis on the underside. More severe forms of hypospadias occur when the opening is at the midshaft or base of the penis. Occasionally, the opening is located in or behind the scrotum.

Males with this condition often have a downward curve (ventral curvature or chordee) of the penis during an erection. (Erections are common with infant boys.)

Other symptoms include:

• Abnormal spraying of urine
• Having to sit down to urinate
• Malformed foreskin that makes the penis look "hooded"

Signs and tests

A physical examination can diagnose this condition. Imaging tests may be needed to look for other congenital defects.

Treatment

Infants with hypospadias should not be circumcised. The foreskin should be preserved for use in later surgical repair.

Surgery is usually done before the child starts school. Today, most urologists recommend repair before the child is 18 months old. Surgery can be done as young as 4 months old. During the surgery, the penis is straightened and the hypospadias is corrected using tissue grafts from the foreskin. The repair may require multiple surgeries.

Expectations (prognosis)

Results after surgery are typically good. In some cases, more surgery is needed to correct fistulas or a return of the abnormal penis curve.

Complications

If hypospadias is untreated, a boy may have difficulty with toilet training and problems with sexual intercourse in adulthood. Urethral stricturesand fistulas may form throughout the boy's life, requiring surgery.

Calling your health care provider

Typically a child is diagnosed with hypospadias shortly after birth. Call your health care provider if you notice that your son's urethral opening is abnormally located or that his penis becomes curved during erection.

References

Kraft KH, Shukla AR, Canning DA. Hypospadias. Urol Clin North Am. 2010. 37:167-81.

Elder JS. Anomalies of the penis and urethra. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 544.

Borer JG, Retik AB. Hypospadias. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 125.

Reviewed By

Review Date: 09/03/2010

Linda Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; and Scott Miller, MD, Urologist in private practice in Atlanta, Georgia. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.