Frequently Asked Questions
The following information is reproduced with grateful acknowledgement to the Hypospadias and Epispadias Association (HEA) in the USA.
What are hypospadias and epispadias?
Hypospadias and epispadias are birth anomalies that result from defective development of the penis during embryological development. Normally the urethra (the tube that serves as a conduit through the penis for passage of urine and semen) runs the entire length of the penis, forming an opening at the tip. However, the penis sometimes does not form correctly and the urethra fails to reach the tip of the penis. The incompletely-developed urethra may form an opening at the under side of the penis (hypospadias) or the upper side of the penis (epispadias).
What problems do hypospadias and epispadias cause?
Consequences depend in large part on the severity of the condition. The most common consequences are difficulty urinating while standing and a cosmetic appearance of the penis that differs from other boys. If chordee is present, the severe curvature of the penis might also cause painful erections. Many boys with these conditions are more susceptible to urinary tract infections because of the shortened urethra.
How do I know whether the condition is mild or severe?
Severity of hypospadias or epispadias can vary significantly from one boy to another. In the mildest cases, the urethral opening forms just short of the tip of the penis. In more severe cases, the opening forms closer to the scrotum.
Hypospadias and epispadias are also often associated with severe curvature of the penis, or chordee, especially in more severe cases. Epispadias may also be associated with a severe condition known as bladder exstrophy, in which the bladder forms outside of the abdominal cavity.
Will boys with hypospadias/epispadias be able to father children when they grow up?
There is no evidence that men with these conditions have more infertility problems than anyone else. However, in severe cases, the urethral opening may be so far from the tip of the penis that semen may not easily enter the vagina. Even in those instances, insemination will likely be possible without medical intervention.
How common are hypospadias and epispadias?
Hypospadias is one of the most common birth anomalies, occurring to some degree in as many as 1 out of every 125 boys (according to the Centers for Disease Control and Prevention). Epispadias, which is often more severe than hypospadias, occurs much less frequently.
What causes hypospadias/epispadias?
Until 8 to 10 weeks of development, embryos have neither male nor female sex organs and genitalia, but instead have a genital tubercle, genital folds and genital swellings. The default developmental pathway is female development, with genital folds becoming labia minora, the tubercle forming the clitoris, and the genital swellings forming the labia majora.
However, male hormones (testosterone and dihydrotestosterone, or DHT) secreted by the male embryo beginning around 10 weeks of development alter the default developmental pathway. The male hormones cause the genital swelling to create the scrotum, the genital folds to fuse together to become the shaft of the penis, and the genital tubercle to form the glans or tip of the penis.
Normally, in male development, the genital folds fuse completely so that the penis completely surrounds the urethra all the way to the tip. Hypospadias/epispadias results when the genital folds fail to fuse properly, leaving part of the penis open and the urethra incompletely developed.
No clear underlying cause of the incomplete fusion has been identified, and there are likely many contributing factors which act together to cause the condition.
- Studies indicate that genes play a role; however, men with hypospadias or epispadias will not necessarily father children with the condition.
- Environmental pollutants that resemble female hormones (oestrogens) or interfere with male hormones may also play a role, but the studies were performed in animals and may not be relevant to humans.
- Some medications may also contribute. For example, pregnant women are advised not to come in contact with the baldness medication Propecia, which blocks formation of DHT, because it may increase the incidence of hypospadias.
The information below is reproduced with grateful acknowledgement from the Bladder Exstrophy Family Association website in Manchester, United Kingdom.
What are bladder exstrophy, epispadias and cloacal exstrophy?
Classic bladder exstrophy is an abnormality of the lower part of the tummy where the bladder, the urethra (the tube that takes urine to the outside of the body), the pelvis and the genitalia are affected. The bladder is seen on the outside of the baby’s tummy, the urethra is open along the top side and not formed into a cylindrical shape as it should be, and the tummy button is in a lower position. The pelvic bones do not come together completely at the front (this is known as diastasis). In the boys the penis is tilted backwards and is shorter than normal. In girls the clitoris is split. Epispadias represents a less extensive form of the condition where the bladder is not visible outside the tummy. In cloacal exstrophy (the most severe form of the complex) the bowel is also affected.
Is my baby going to die?
Bladder exstrophy/epispadias is not a life-threatening or life-limiting condition. Indeed there are people living overseas who have never had treatment for their bladder exstrophy/epispadias and have lived to old age.
Will my child lead a normal life?
There is no reason why a child with bladder exstrophy/epispadias will not meet their expected milestones. He/she will crawl, walk and talk at the usual time, he/she will attend mainstream education. Many patients have very successful careers and there are a significant number of patients who have married and had their own children.
Why has this happened?
It is not known exactly why bladder exstrophy/epispadias happens, however research is ongoing to try and find the answers. It is known that the problem happens very early on in pregnancy, around the 4th- 8th week.
Could I/we have prevented this from happening?
We are not aware of anything that you or your partner could have/have not done to prevent this from happening.
Will my child be incontinent?
Your child will be able to gain continence however he/she may not empty their bladder in the normal way.
Should this problem have been noted during pregnancy?
The condition is sometimes detected during routine ante-natal scanning, however it is obvious at birth.
What is the treatment?
It must be remembered that every case of bladder exstrophy/epispadias is different, therefore management is individualised. However your child will need surgical repair of the defect.
Could this happen to us again in future pregnancies?
Bladder exstrophy/epispadias is a very rare condition and happens in approximately 1:50,000 live births. It is more commonly seen in boys than in girls and the risk of recurrence in a family is approximately 1:100.
Could this happen again if my child chooses to have children?
The risk of bladder exstrophy/epispadias happening to children of individuals with bladder exstophy/epispadias is 1:70, this is a greater risk than in the general population.