Hypospadias: symptoms, causes, treatment and prognosis

Hypospadias is a common congenital malformation of the penis, in which the urethra or urethra does not open at the tip of the penis, but at the bottom of the penis. Hypospadias often occurs in combination with a curvature of the penile shaft, stenosis (narrowing of the urethral opening), a split foreskin (long foreskin on one side, absence of the foreskin on the other side) or an undescended testicle (Maldescensus testis). Hypospadias may appear as a feature in some syndromes, such as McKusick-Kaufman syndrome or Naguib-Richieri-Costa syndrome. Hypospadias is usually diagnosed during a physical examination after the baby is born. The treatment of hypospadias depends on the type of defect the boy has. In most cases of hypospadias, surgery is required to correct the defect.

  • What is hypospadias?
  • In boys
  • In girls
  • Epispadias
  • Prevent
  • Risk factors for hypospadias
  • Causes of hypospadias
  • Embryological development
  • Hormonal factors
  • Genetic factors
  • Environmental factors
  • Symptoms of hypospadias
  • forms of hypospadias
  • Examination and diagnosis
  • Complications
  • Treatment of hypospadias
  • Prognosis
  • Prevention

 

What is hypospadias?

In boys

In hypospadias, the opening of the urethra or urethra is at the base of the penis instead of at the tip of the penis. The urethra is shortened. Depending on the severity, the urethra can end under the glans or even at the perineum (between the external genitals and the anus). This makes it difficult for the affected boy or man to urinate while standing because the urine runs backwards. Hypospadias is one of the most common genetic malformations of the male urogenital tract. It is often associated with an enormous psychological burden for the parents and the affected young.

In girls

Hypospadias in girls is a rare phenomenon or little noticed. It means that the opening of the urethra is located in the vaginal wall instead of between the vagina and the clitoris.

Epispadias

The opposite, in which the opening of the urethra is located at the top of the penis, is known as epispadias.

Prevent

It is estimated that approximately 1 in 200 boys are born with hypospadias, making it one of the most common birth defects. Given that the condition often goes undiagnosed in girls and women, the true prevalence of hypospadias in girls and women in 2023 is difficult to determine.

Risk factors for hypospadias

Risk factors for hypospadias include:

  • Familial occurrence: approximately 7% of boys with hypospadias have a father with hypospadias. Brothers of patients with hypospadias have a 14% risk of hypospadias.
  • Increased age of mother: the older the mother, the greater the chance of this abnormality.
  • Low birth weight
  • In vitro fertilization or IVF for short, also known as test tube fertilization.

 

Causes of hypospadias

In most cases, the exact cause of hypospadias is unknown in 2023. Genetic and environmental factors may play a role.

Embryological development

The urethra or urethra arises from the urethral folds, which fuse at the median under the influence of androgens and then close. This fusion begins perineally in the 11th week of gestation and extends distally. The fusion includes the endodermal and ectodermal tissue. In the case of hypospadias, the deformity affects the endodermal and ectodermal tissue. An example of an ectodermal malformation is the foreskin, which in hypospadias is not properly developed, making it appear as if the penis has a cap.

Hormonal factors

Certain hormones stimulate the formation of the urethra and foreskin in a male fetus. Hypospadias occurs when there is a disturbance in the functioning of these hormones, causing the urethra to develop abnormally.

Genetic factors

Hypospadias is probably a polygenic disease, a disease caused by the simultaneous damage of several genes. Most of the genes that play a role are still unknown in 2023. Hypospadias is also a symptom of a number of genetic syndromes, such as Denys-Drash syndrome, Opitz G/BBB syndrome, Smith-Lemli-Opitz syndrome (SLO), Patau syndrome (trisomy 13), hand-foot-genital syndrome (HFGS), McKusick-Kaufman syndrome, Naguib-Richieri-Costa syndrome or Aarskog syndrome.

Environmental factors

A variety of substances with estrogenic activity pollute the environment and accumulate through the food chain. For example, they come from insecticides, natural plant estrogens and from the plastics industry. The impact on wildlife is well documented, such as thin eggshells in birds or penis deformities in alligators. The worldwide increase in hypospadias in humans is attributed to these environmental factors.

Symptoms of hypospadias

A hypospadias can mainly be recognized by the shortened urethral opening. In boys, it usually ends at the end of the penis, on top of the glans, where it can be easily exposed by pulling back your foreskin. In hypospadias, the opening of the urethra is in most cases located in the head of the penis (on the underside). Less commonly, the opening is located in the center or base of the penis (also on the underside). Rarely the opening is in or under the scrotum.
People with hypospadias have problems urinating and ejaculating, such as abnormal spraying during urination. Urination and intercourse can lead to pain and burning, which usually disappear after a few seconds to minutes.
The penis may also show a downward bend when erect and the boy has an abnormal foreskin that makes it appear as if the penis has a cap because only the top half of the penis is covered by the foreskin .

Forms of hypospadias / Source: Centers for Disease Control and Prevention, Wikimedia Commons (CC0)

forms of hypospadias

The type of hypospadias a boy has depends on the location of the urethral opening:

  • Subcoronal: The opening of the urethra is located somewhere near the head of the penis.
  • Mid axis: The opening of the urethra is located along the shaft of the penis.
  • Penoscrotal: The opening of the urethra is located where the penis and scrotum meet.

 

Examination and diagnosis

The treating urologist makes the diagnosis after a detailed physical examination. In most cases, an ultrasound of the urethra is then made. This serves, among other things, to clarify the severity. A urogram can also be made. This is a contrast photo of the kidneys and urinary tract. In addition to these diagnostic measures, a voiding cystourethrogram can also be performed, in which the bladder is subjected to an X-ray examination using contrast fluid before and after urination. As part of the diagnosis, it is also important to determine the severity of the hypospadias.

Complications

If left untreated, hypospadias can result in:

  • Abnormal appearance of the penis.
  • Problems urinating.
  • Abnormal curvature of the penis during erection.
  • Problems with reduced ejaculation.
  • Depression and social withdrawal.

 

Treatment of hypospadias

It is not unusual for people with very mild forms of hypospadias to be barely aware of it and not experience any symptoms. However, if there are functional limitations, surgery is usually recommended. This ideally takes place from the first year of life of the affected boy. If the urethra is narrowed, surgery may be necessary even in babies. It is a complicated operation that can take several hours. The procedure always takes place under general anesthesia.
To correct hypospadias, there are several surgical approaches depending on the severity of the deformity. The surgeons should also be aware of other genitourinary tract malformations that are common in hypospadias. These include malformations of the erectile tissue in the penis or a curvature of the penile shaft.
It is not uncommon for there to be a split foreskin, which means that the foreskin is longer on one side and missing on the other side of the penis. During surgery, the urethra is placed on the tip of the penis. This should allow normal urination or a normal erection. The surgeons also try to straighten the penis.

Prognosis

Most surgical corrections of hypospadias last a lifetime and lead to normal, healthy penile function. Complications after surgery are rare. Occasionally, a urinary tract fistula forms in the skin of the penis. There may also be scarring that can affect urine flow.

Prevention

Since hypospadias is a genetically or endocrinologically caused abnormal development in the urogenital tract that occurs during early pregnancy, prevention is not possible.

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