CONGENITAL DISORDERS

Posterior Urethral Valve

1. Definition: A congenital anomaly in male infants where a membrane or valve-like structure obstructs the normal flow of urine from the bladder through the urethra.

2. Types:

   1. Complete or total posterior urethral valve: The most common type, where the valve completely obstructs the urethra.
   2. Incomplete or partial posterior urethral valve: The valve only partially obstructs the urethra.
   3. Bilateral or symmetrical posterior urethral valve: Valves occur on both sides of the urethra.
   4. Unilateral or asymmetrical posterior urethral valve: Valves occur on one side of the urethra.

3. Causes: Usually a random genetic mutation during fetal development, often associated with other congenital abnormalities.

4. Clinical Features:

   1. Initial presentation: Infants may have a distended bladder, urinary retention, or incontinence.
   2. Older children: May have recurrent urinary tract infections, kidney damage, or kidney failure.
   3. Delayed diagnosis: In some cases, the condition is not diagnosed until adolescence or adulthood.

5. Investigations:

   1. Ultrasound: To evaluate the size and function of the kidneys and bladder.
   2. Voiding cystourethrogram (VCUG): To visualize the urethra and bladder during urination.
   3. Cystoscopy: To directly visualize the urethra and bladder.

6. Complications:

   1. Urinary tract infections.
   2. Kidney damage or failure.
   3. Bladder damage or obstruction.

7. Management:

   1. Endoscopic valve ablation: To remove the valve using a specialized endoscope.
   2. Open surgical repair: To remove the valve through an open incision.
   3. Monitoring: Regular follow-up to assess the function of the kidneys and bladder.

8. Treatment: Endoscopic valve ablation is the preferred treatment for posterior urethral valves.

Hypospadias

1. Definition: A congenital condition where the opening of the urethra is located on the underside of the penis instead of the tip.

2. Types:

   1. Distal or distal gland hypospadias: The urethral opening is located on the underside of the penis, near the tip.
   2. Midshaft or midshaft gland hypospadias: The urethral opening is located in the middle of the penis.
   3. Proximal or proximal gland hypospadias: The urethral opening is located near the base of the penis.

3. Causes: Genetic or environmental factors, often associated with other congenital abnormalities.

4. Clinical Features: Infants may have a small or undescended penis, or difficulty urinating.

5. Investigations:

   1. Physical examination: To assess the size and location of the urethral opening.
   2. Ultrasound: To evaluate the size and function of the kidneys and bladder.

6. Complications:

   1. Urinary tract infections.
   2. Kidney damage or failure.
   3. Difficulty urinating or incontinence.

7. Management:

   1. Surgical repair: To move the urethral opening to the tip of the penis.
   2. Monitoring: Regular follow-up to assess the function of the kidneys and bladder.

8. Treatment: Surgical repair is the preferred treatment for hypospadias.

Epispadias

1. Definition: A congenital condition where the opening of the urethra is located on the top of the penis instead of the tip.

2. Types:

   1. Complete epispadias: The urethral opening is located on the top of the penis, and the penis is split open.
   2. Incomplete epispadias: The urethral opening is located on the top of the penis, but the penis is not split open.

3. Causes: Genetic or environmental factors, often associated with other congenital abnormalities.

4. Clinical Features: Infants may have a split penis or difficulty urinating.

5. Investigations:

   1. Physical examination: To assess the size and location of the urethral opening.
   2. Ultrasound: To evaluate the size and function of the kidneys and bladder.

6. Complications:

   1. Urinary tract infections.
   2. Kidney damage or failure.
   3. Difficulty urinating or incontinence.

7. Management:

   1. Surgical repair: To move the urethral opening to the tip of the penis.
   2. Monitoring: Regular follow-up to assess the function of the kidneys and bladder.

8. Treatment: Surgical repair is the preferred treatment for epispadias.

Urethral Diverticulum

1. Definition: A pouch or sac in the urethra that is not connected to the normal flow of urine.

2. Types:

   1. Anterior urethral diverticulum: Located in the anterior part of the urethra, near the bladder.
   2. Posterior urethral diverticulum: Located in the posterior part of the urethra, near the prostate gland.

3. Causes: Often associated with trauma, infection, or congenital abnormalities.

4. Clinical Features:

   1. Difficulty urinating or incontinence.
   2. Recurrent urinary tract infections.
   3. Hematuria or blood in the urine.

5. Investigations:

   1. Voiding cystourethrogram (VCUG): To visualize the urethra and bladder during urination.
   2. Cystoscopy: To directly visualize the urethra and bladder.

6. Complications:

   1. Urinary tract infections.
   2. Kidney damage or failure.
   3. Bladder damage or obstruction.

7. Management:

   1. Surgical repair: To remove the diverticulum and repair the urethra.
   2. Monitoring: Regular follow-up to assess the function of the kidneys and bladder.

8. Treatment: Surgical repair is the preferred treatment for urethral diverticulum.