Hypospadias & epispadias - causes, symptoms, diagnosis, treatment, pathology

Summary

Hypospadias and epispadius are congenital conditions affecting the urethral opening in boys and, less commonly, girls. Hypospadias involves an opening on the underside of the penis, while epispadius has it on the top. Both conditions are more prevalent in males and can cause urinary and sexual dysfunction if untreated. They result from abnormal development of the genital tubercle during fetal growth, influenced by hormones. Surgical correction is common within the first two years of life, and circumcision should be avoided in affected infants.

Takeaways

• 🔤 Hypospadias and epispadius are congenital abnormalities affecting the urethra's opening position.
• 👦 Hypospadias is more common in males, where the urethral opening is abnormally located on the underside of the penis.
• 👧 Epispadius also occurs more frequently in males but can affect females, with the urethral opening on the top side of the penis.
• 🔢 Both conditions can manifest in three areas: glanular, midshaft, and perineoscrotal for hypospadias; penoscrotal, penile, and glandular for epispadius.
• 🚼 The development of these conditions is linked to the response of the genital tubercle to hormones during the eighth week of gestation.
• 🌡️ The exact cause of these abnormalities is not fully understood but is associated with abnormal levels of androgens and estrogens in the fetus.
• 🔗 Hypospadias is often associated with other conditions like chordee, inguinal hernia, and cryptorchidism.
• 🔗 Epispadius is commonly linked to bladder extrophy and, in females, a bifid clitoris.
• 🚨 Symptoms vary depending on the location of the abnormal opening and can lead to urinary difficulties, infections, and sexual dysfunction if untreated.
• 🩺 Diagnosis is typically made at birth, and treatment often involves surgery to reconstruct the urethra and correct the defect.
• ⚠️ Infants with hypospadias should not undergo circumcision as foreskin may be needed for future surgical reconstruction.

Q & A

What is the difference between hypospadias and epispadius?

Hypospadias refers to an abnormal opening on the bottom of the urethra, while epispadius refers to an abnormal opening on the top of the urethra.

Which gender is more commonly affected by hypospadias and epispadius?

Both conditions are more common in boys than in girls.

What is the role of dihydrotestosterone in genital development?

Dihydrotestosterone causes the genital tubercle to stretch out into a primitive phallus in boys.

What is the normal development process of the urethra in male fetuses?

In the 14th week of gestation, the urethral folds pinch off the urethral groove to form the penile urethra, and by the 17th week, the urethral canal connects with the penile canal, allowing the urethra to open at the tip of the penis.

In what three areas can hypospadias occur in boys?

Hypospadias can occur in the glanular area near the head of the penis, the midshaft, and the perineoscrotal area where the penis and scrotum meet.

How does the development of the genital tubercle differ in boys with epispadius?

In boys with epispadius, the genital tubercle grows in the posterior direction towards the rectal area instead of the cranial direction.

What are the three areas where epispadius can occur in boys?

Epispadius can occur in the penopubic area where the base of the penis meets the abdominal wall, along the penile shaft, and in the glandular area near the head of the penis.

How do hypospadias and epispadius affect girls?

In girls, hypospadias results in the urethra opening into the anterior vaginal wall, while epispadius results in the urethra developing too far anteriorly.

What are some associated conditions with hypospadias?

Hypospadias can be associated with chordee, inguinal hernia, and cryptorchidism.

What are the symptoms of hypospadias and epispadius in boys?

Symptoms can range from difficulty targeting urine to incontinence.

How are hypospadias and epispadius diagnosed?

Diagnosis is typically made during a physical examination of a newborn infant, and imaging studies like an excretory urogram can also be used.

What is the usual treatment for hypospadias and epispadius?

Surgery is usually performed to reconstruct the urethra and close up the defect, allowing urine to flow out the tip of the urethra.