Epispadias is a congenital condition whereby the vagina (or penis) is malformed, including in particular the urethra. It can even include a double clitoris. When it involves the bladder and urethra, and other pelvic structures, it is more often called the exstrophy-epispadias complex – epispadias is rarely found by itself. Exstrophy is where the bladder and other structures are outside the abdomen, with other pelvic malformations.

While the foetus is developing, certain events happen at different, but very specific, times. Epispadias is essentially a timing error that results in the external genitalia malforming, and sometimes the bladder and large intestine too. It varies in severity. The more structures involved, the more severe the epispadias.

Epispadias affects boys and girls, however this article only deals with girls, for whom epispadias is far rarer – affecting only one in 484,000 live births.

How epispadias affects girls

The pubic bones are separated, with the result being that the clitoris doesn’t fuse during development, leaving two halves of the clitoris. The bladder neck is almost always affected, which causes leaking urine when the bladder is pressured (coughing, lifting). In most cases, surgery resolves the problem.

Diagnosis

Epispadias is typically observed at birth, but very minor epispadias can be missed, and only becomes apparent when the child remains wet after toilet training. There is no evidence to suggest that babies born with epispadias are any worse off in any other way, and the incidence of other issues is low.

It can be expected that the child’s problems remain isolated to the pelvic region and further studies need not be examined without cause, though boys may experience problems with fertility logistics. Girls generally see no such issues, as their reproductive organs are intact.

Any child born with severe exstrophy-epispadias complex are at a slightly increased risk of other malformations (ureters, vesicoureteral reflux).

Treatment

Treatment depends on the problems in the particular child, and is surgery in all cases. Some children will have complete exstrophy-epispadias, and there is an increased risk of urinary tract infections (vesicoureteral reflux), in which case, the children remain on antibiotics until the reflux is corrected as a preventative for UTIs.

In girls, the main treatment outcomes are cosmetically-pleasing outer genitalia, and if the bladder and bladder neck are involved, urinary continence and fertility preservation techniques as needed.

The surgical techniques differ in boys and girls, with the female reconstruction of the bladder less complex compared to boys. The urethra and vagina can be short and nearer to the front of the body, and the clitoris split into two parts. Other internal reproductive organs are normal (uterus, fallopian tubes, ovaries).

If diagnosed at birth, the clitoris can be brought together and the urethra replaced in a normal position. If the operation happens early enough, continence can be saved. If diagnosis is missed and early repair not performed, incontinence can be surgically corrected later in life. A narrow vaginal entrance in older girls or younger women can be reconstructed after puberty.

If exstrophy-epispadias complex has occurred, further surgery is likely to be required to improve urethral resistance – this involves bladder neck repairs. Newer methods of primary repair at birth mean that almost one-third of girls can achieve complete urinary control without further surgeries.

With children who don’t potty train normally, other methods can be used to get the urinary function up to standard. This could include injecting a bulking material around the bladder neck, solving leakage problems. Other surgical methods may include creating a longer urethra or wrapping other materials around the bladder neck.

Early repair is the best course of action, with early bladder storage and emptying promoting proper bladder growth and function. Surgery used to be delayed until one year after birth, but some surgeons are indicating a preference for earlier repair for better outcomes. Discuss this with the surgeon.

Outcomes

Old problems are being phased out as new surgical methods improve outcomes. The formation of an abnormal hole in the urethral tube used to be common, but is now much less common (about six per cent).

 

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