With hypospadias and epispadias, the prefix -hypo means below, - epi means above, and
the suffix -spadias refers to a slit or opening.
So instead of having an opening at the tip of the urethra, hypospadias refers to an abnormal
opening on the bottom of the urethra and epispadias refers to an abnormal opening on the top of
the urethra, and both of these can happen in boys and girls, but are way, way more common
in boys.
During genital development in the fetus, there's a point in the 8th week of gestation, when
both boys and girls have a similar bit of tissue called the genital tubercle which normally
grows in the cranial direction, meaning that it grows towards the head.
After that point, in boys, the genital tubercle responds to the hormone dihydrotestosterone
and stretches out a bit into a primitive phallus.
As it grows in length, an area of tissue on the underside called the urethral plate invaginates
to form a urethral groove which is lined with epithelial cells.
In the 14th week of gestation, the two urethral folds on the sides pinch off the groove to
make it close, and form the penile urethra.
In the 17th week of gestation, the ectodermal cells of the glans penis or head of the penis
also undergo a process of canalization, and the urethral canal connects with the penile
canal, and that means that the urethra eventually meets the outside world at the tip of the
penis.
In a boy, hypospadias happens when the urethral folds along the penile urethra don't meet
up and close properly.
And that leaves an opening somewhere along the bottom of the penile shaft and urine can
leak out at that spot, instead of going out the tip of the penis like it should.
Anatomically, hypospadias can happen in three areas: glanular, which is near the head of
the penis, midshaft, which is the middle of the penis, and penoscrotal—where the penis
and scrotum come together.
Generally, the least severe hypospadias are glanular and most severe are penoscrotal.
Now, with regard to epispadias, the problem starts during the 6th week of gestation when
the genital tubercle grows in a posterior direction, towards the rectal area instead
of the cranial direction.
In a boy, this results in an opening along the upper surface of the penis.
And anatomically, epispadias can happen in three areas: penopubic, where the base of
the penis and the abdominal wall come together, penile, which is just somewhere along the
penis, and again glanular—near the head of the penis.
Generally, the least severe are glanular, and the most severe are penopubic.
Alright so, switching gears to girls, during development estrogens stimulate the development
of the external genitalia.
In this case, the genital tubercle elongates only gets a little bit longer and then forms
the clitoris.
Here, the urethral folds and groove do not fuse but instead create the labia minora and
the vestibule.
In the 13th week of gestation, the urethra forms, and is situated anterior to the vagina
and is shorter than the one in boys.
Hypospadias results in the urethra opening into the anterior vaginal wall, whereas epispadias
results in the urethra developing too far anteriorly.
Now, the precise cause of hypospadias and epispadias is not fully understood, but seem
to be related to fetal exposure to abnormal levels of androgens and estrogens.
Of the two, hypospadias is more common, and they're associated with other conditions
like chordee, which is when the penis has a hook shape and curves inwardly, inguinal
hernia, which is a protrusion of bowel through the inguinal canal, and cryptorchidism, which
is the absence of testes from the scrotum.
Epispadias, on the other hand, are usually associated with bladder exstrophy, where the
bladder sticks out through the abdominal wall, and in females, they're often associated
with a bifid clitoris, which is where the clitoris itself is divided into two parts.
Symptoms of hypospadias and epispadias largely depends on the location of the abnormal urethral
opening.
In boys, the symptoms can range from making it slightly difficult to target the urine
to incontinence.
In girls, the diagnosis often happens later in life, and can cause frequent and painful
urination, as well as recurrent urinary tract infections.
As individuals mature, if the problem left untreated, it can lead to sexual dysfunction,
infertility, and psychosocial problems, especially in intimate relationships.
The diagnosis of both hypospadias and epispadias is typically made when examining a newborn
infant.
Imaging studies, like an excretory urogram can also be used to help with the diagnosis,
and this is where a series of x-rays are used to visualize substances passing through the
kidneys, the bladder, and the urethra.
To treat both hypospadias and epispadias, surgery can be done to reconstruct the urethra,
close up the defect and allow urine to come out the tip of the urethra.
This is usually done within the first two years of life.
Sometimes hormone therapy can be useful as well, especially when there is an additional
problem.
For example in a boy with a micropenis, which is an extremely small penis that results from
low androgen levels during development.
Finally, infants with hypospadias should not undergo circumcision, because the foreskin
may be useful for future reconstruction.
All right, as a quick recap, epispadias and hypospadias are generally seen in boys, although
they can happen in both sexes.
In boys with hypospadias there is an abnormal opening on the underside of the penis, whereas
with epispadias there is an abnormal opening above, or on top of, the penis.
Fortunately, both can be surgically corrected so that urine flows out of the tip of the
urethra.
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