Hypospadias

Hypospadias is a common malformation of the penis in which there is a displacement of the urethra. It affects about one in 200 to one in 300 male newborns.

The main symptom of hypospadias is a displacement of the urethral outlet (meatus urethrae externus) away from the tip of the glans to the underside of the glans, along the lower shaft of the penis to the scrotum.

The location of the urethral outlet is used to classify hypospadias and their severity. A distinction is made between anterior (distal) forms, in which the meatus is still in the region of the lower glans or the glans margin, and intermediate (penile) forms, in which it has already migrated to the penile shaft. In particularly severe (proximal) forms, the urethral opening may shift to the testicular (scrotal) or perineal (perineal) area. Distal hypospadias are most common, accounting for about 75% of all cases. Intermediate forms occur in about 20% and proximal hypospadias are generally very rare.

In addition to the displacement of the urethral orifice, hypospadias may cause curvature of the penis or even foreskin changes. In "hypospadias without hypospadias" (hypospadia sine hypospadia), the meatus is in the normal position but accompanied by marked penile curvature as well as severe foreskin changes. Other malformations such as undescended testicles (maldescensus testis) or inguinal hernia (hernia inguinalis) also occur frequently in hypospadias.

Hypospadias exists from birth and is due to defective development of the embryo in the third and fourth months of pregnancy. In this case, an interruption of the development of the urethra is suspected, which leads to the displacement of the meatus. The timing of the developmental interruption determines the severity of the hypospadias. The earlier, the more severe the expression.

Various causative factors are discussed. Due to a familial accumulation, a genetic component is assumed. Thus, the risk is significantly increased for sons of affected fathers as well as for their siblings. The development of the genitals and urethra is mainly controlled by sex hormones such as testosterone, which is why disruptive factors in these systems - such as mutations in relevant genes - are also discussed as a cause. Nevertheless, a genetic cause is found in only 5% of cases of the disease. Hypospadias can also occur in the context of rare genetic syndromes in combination with other malformations, which usually have a genetic defect as their cause.

Hypospadias is usually noticed in the first months after birth and early surgical therapy is generally recommended. Symptoms may vary due to the different manifestations. These include:

• Problems urinating

• increased risk of urinary tract infections

• restrictions during sexual intercourse

• unsatisfactory aesthetics

• infertility

• reduced quality of life

• unsatisfactory sexuality

• psychological stress up to depression

Leading causes of hypospadias are limited function during urination, difficulties and pain during sexual intercourse, and aesthetics that are often unsatisfactory for the affected person. The consequences are: psychological stress, sexual avoidance behavior and social isolation as well as depression.

Hypospadias is usually a visual diagnosis that is made during the urological examination or already in the pediatrician's office. In addition to the position of the urethra, the foreskin and a possible curvature of the penis should also be taken into account.

The therapy of hypospadias usually consists of surgical reconstruction. Nowadays, surgery is attempted by the 18th month of life if the diagnosis is made early. If the diagnosis is delayed, a later operation is also possible. The indication is made on the basis of the anatomy. This depends on the position of the urethral outlet, possible penile curvature and changes in the testicles. The indication is usually discussed with the parents and, depending on the age, with the patient. The goals of the operation are a relocation of the urethral outlet to the glans, a normal urinary stream, the correction of penile curvature, and later normal sexual function. The choice of surgical technique depends largely on the anatomy, the deformities to be treated and the intraoperative situation. Often, the extent of the surgery is difficult to predict preoperatively. In very pronounced cases, multiple interventions are often necessary in this case.