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Epispadias

Epispadias: Causes, Symptoms, Diagnosis, Treatment, and Prevention

A birth defect called epispadias affects the urethra, which carries urine from the bladder to the external world. This condition causes the urethra not to fully develop and opens abnormally. The causes, symptoms, diagnosis, treatment, and prevention of epispadias will be discussed in this blog post. Epispadias can adversely affect urination, sexual function, and fertility.

Causes of Epispadias

Epispadias may be caused by improperly developed pubic bones, which interfere with urethra and genital formation. Epispadias is often associated with bladder exstrophy, a condition where the bladder protrudes through the abdominal wall from the inside out. Males are more likely to suffer from epispadias than females, where one in 117,000 males and one in 484,000 females suffer from it.

Symptoms of Epispadias

The symptoms of epispadias vary depending on the severity and location of the urethral opening. In males, epispadias can cause:

  • A penis that is short, wide, and curved upward

  • A urethral opening on the top of the penis, instead of the tip

  • A groove or split along the top of the penis

  • Difficulty controlling urine flow and leakage

  • Reduced sensation and erectile function

  • Low sperm count and infertility

In females, epispadias can cause:

  • A urethral opening near the clitoris or the lower abdomen

  • A split or bifid clitoris

  • Abnormal labia (the folds of skin around the vagina)

  • Difficulty controlling urine flow and leakage

  • Reduced sensation and sexual function

  • Urinary tract infections and kidney problems

Diagnosis of Epispadias

Prenatal ultrasound can detect epispadias and bladder exstrophy during the 11th week of pregnancy. After birth, epispadias can be diagnosed by physical examination of the genital area and the urethra. Tests to assess the function of the urinary system and reproductive organs may include blood tests, urine tests, X-rays, and cystoscopy (a procedure that uses a thin tube with a camera to look inside the bladder and urethra).

Treatment of Epispadias

The treatment of epispadias depends on the severity of the condition and the individual’s preferences. The main goals of treatment are to:

  • Correct the appearance and function of the genitals

  • Restore the normal position and function of the urethra and the bladder

  • Prevent or treat urinary tract infections and kidney problems

  • Preserve or improve sexual function and fertility

Surgery is usually required to treat epispadias, which can be done in stages or all at once. Several factors influence the type and timing of surgery, including the patient's age, the extent of the defect, bladder exstrophy, and the expected outcome. Epispadias can be treated in a variety of ways, including:

  • Urethroplasty: This is a surgery that reconstructs the urethra and creates a new opening at the tip of the penis or the vagina.

  • Genitoplasty: This is a surgery that reshapes the genitals and corrects the curvature of the penis or the split of the clitoris.

  • Bladder neck reconstruction: This is a surgery that repairs the bladder sphincter, the muscle that controls the urine flow, and improves the urine control and storage.

  • Bladder augmentation: This is a surgery that enlarges the bladder by using a piece of intestine or other tissue, and increases the bladder capacity and pressure.

  • Urinary diversion: This is a surgery that creates a new way for the urine to exit the body, such as through an opening in the abdomen (stoma) or the navel (Mitrofanoff), and bypasses the urethra and the bladder.

There may be risks and complications associated with epispadias surgery, including bleeding, infection, scarring, narrowing of the urethra, incontinence, impotence, infertility, and psychological distress, which may require multiple procedures and hospitalizations. It is therefore important to discuss the benefits and drawbacks of the surgery with the patient (or the child's parents, if the patient is a child).

Prevention of Epispadias

There is no known way to prevent epispadias, as the causes are not fully understood. However, some factors that may reduce the risk of epispadias and other birth defects are:

  • Taking folic acid supplements before and during pregnancy

  • Avoiding smoking, alcohol, and drugs during pregnancy

  • Getting regular prenatal care and screening tests

  • Consulting a genetic counselor if there is a family history of epispadias or bladder exstrophy

Conclusion

The urethra and genitals can be affected by epispadias, a birth defect that can affect urination, sexual function, and fertility. Epispadias can be diagnosed before or after birth, and it can be treated with surgery. An epispadias treatment involves correcting the appearance and function of the genitals, the urethra, and the bladder, as well as preventing or treating complications. There is no way to prevent epispadias, but some factors can reduce the risk. Individuals with epispadias may require lifelong support and care due to the significant impact it has on their physical and emotional well-being. People with epispadias and their families should seek medical help and counseling, as well as join a support group.

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