An epispadias is a rare type of

malformation A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can r ...

in which the

urethra The urethra (from Greek οὐρήθρα – ''ourḗthrā'') is a tube that connects the urinary bladder to the urinary meatus for the removal of urine from the body of both females and males. In human females and other primates, the urethra con ...

ends, in males, in an opening on the upper aspect of the penis, and 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.

Signs and symptoms

Most cases involve a small and

bifid penis A bifid penis (or double penis) is a rare congenital defect where two genital tubercles develop. Many species of male Marsupial#Reproductive system, marsupials have a naturally bifurcated penis, with left and right prongs that they insert into mul ...

, 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 is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias complex, and most notably involves protrusion of the urinary bladder through a defect in the abdominal wall. Its presentation is variable, often ...

) or the entire perineum (

cloacal exstrophy Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of the bladder, genitalia, and the anus. It is sometimes called OEIS complex. Diagnosti ...

) are open and exposed on birth, requiring closure. Many parts of this article are incorrect.

Relationship to other conditions

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

hypospadias Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting abou ...

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

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.

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 The Mitrofanoff procedure, also known as the Mitrofanoff appendicovesicostomy, is a surgical procedure in which the appendix is used to create a conduit, or channel, between the skin surface and the urinary bladder. The small opening on the skin ...

* depression and psycho-social complications * sexual dysfunction

References

External links

{{Congenital malformations of urinary system Congenital disorders of urinary system Congenital disorders of male genital organs Rare diseases