An epispadias is a rare type of malformation of the penis

Penis

The penis is a biological feature of male animals including both vertebrates and invertebrates...

 in which the urethra

Urethra

In anatomy, the urethra is a tube that connects the urinary bladder to the genitals for the removal of fluids out of the body. In males, the urethra travels through the penis, and carries semen as well as urine...

 ends in an opening on the upper aspect (the dorsum) of the penis. It can also develop in females when the urethra develops too far anteriorly. It occurs in around 1 in 120,000 male and 1 in 500,000 female births.

Causes

Epispadias is an uncommon and partial form of a spectrum of failures of abdominal and pelvic fusion in the first months of embryogenesis known as the exstrophy - epispadias complex. While epispadias is inherent in all cases of exstrophy it can also, much less frequently, appear in isolation as the least severe form of the complex spectrum. It occurs as a result of defective migration of the genital tubercle primordii to the cloacal membrane, and so malformation of the genital tubercle, at about the 5th week of gestation.

Presentation

Most cases involve a small and bifid penis

Bifid penis

A bifid penis is a rare congenital defect where two genital tubercles develop.Historically, males born with a bifid penis often underwent sex reassignment surgery, due to the difficulty of penile reconstruction. They were raised as girls, and often had reconstructive surgery to make them...

, which requires surgical closure soon after birth, often including a reconstruction of the urethra. Where it is part of a larger Exstrophy, not only the urethra but also the bladder (bladder exstrophy

Bladder exstrophy

Bladder exstrophy is a congenital anomality in which part of the urinary bladder is present outside the body. It is rare, occurring once every 10,000 to 50,000 live births with a 2:1 male:female ratio. The diagnosis involves a spectrum of anomalies of the lower abdominal wall, bladder, anterior...

) or the entire perineum (cloacal exstrophy

Cloacal exstrophy

Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs are exposed. It often causes the splitting of both male and female genitalia , and the anus is occasionally sealed.Cloacal exstrophy is an extremely rare birth defect, present in only one in 200,000 pregnancies - one...

) are open and exposed on birth, requiring closure.

Relationship to other conditions

Despite the similarity of name, an epispadias is not a type of hypospadias

Hypospadias

Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus...

, and involves a problem with a different set of embryologic processes.

In women

Women can also have this type of congenital malformation. Epispadias of the female may occur when the urethra develops too far anteriorly, exiting in the clitoris or even more forward. For females, this may not cause difficulty in urination but may cause problems with sexual satisfaction. Frequently, the clitoris is bifurcated at the site of urethral exit, and therefore clitoral sensation is less intense during sexual intercourse due to frequent stimulation during urination. However, with proper stimulation, using either manual or positional techniques, clitoral orgasm is definitely possible.

Treatment

The main treatment for isolated epispadias is a comprehensive surgical repair of the genito-urinary area usually during the first 7 years of life, including reconstruction of the urethra, closure of the penile shaft and mobilisation of the corpora. The most popular and successful technique is known as the modified Cantwell-Ransley approach. In recent decades however increasing success has been achieved with the complete penile disassembly technique despite its association with greater and more serious risk of damage.

Prognosis

Even with successful surgery, patients may have long-term problems with

• incontinence, where serious usually treated with some form of continent urinary diversion such as the Mitrofanoff
• depression and psycho-social complications
• sexual dysfunction

External links

• Exstrophy of the Bladder and Epispadias - Children's Hospital Boston