Definition

Hypospadias is a condition from birth that impacts the formation of the urethral opening, which is the tube that allows urine to leave the bladder and the penis. In this condition, the urethral opening is situated on the underside of the penis rather than at the tip.

This condition is frequently encountered, with experts' estimates suggesting that 1 in 200 newborns in the United States is born with hypospadias. Despite being one of the most common congenital abnormalities, taking care of infants with hypospadias does not usually pose difficulties. Surgery is commonly carried out to correct the shape of the baby's penis. With successful treatment for hypospadias, most men can urinate and reproduce normally.

Causes

The development of the penis begins during the fetal stage. Initially, the external genitalia structures are similar in males and females. However, around the 8th week of pregnancy, these structures differentiate into masculine forms in males under the influence of testosterone and dihydrotestosterone hormones. These hormones play a crucial role in stimulating the formation of the urethra and the penile foreskin (prepuce). In males with hypospadias, the urethra forms abnormally during weeks 8 to 14 of pregnancy due to disruptions in the function of these hormones.

However, in most cases, the exact cause of hypospadias remains unknown. It is believed that hypospadias may arise due to a combination of genetic and environmental factors. Factors such as the pregnant mother's exposure to substances in her environment, her dietary habits, or certain medications used during pregnancy may influence the development of hypospadias.

Risk factor

Although the exact cause of hypospadias is often unknown, several factors may increase the risk of giving birth to a male baby with hypospadias:

• Maternal age and weight: Pregnant women aged 35 years or older and those who are obese have a higher risk of delivering a baby with hypospadias.
• Fertility treatments: Women who use assisted reproductive technology to aid pregnancy have a higher risk of delivering a baby with hypospadias.
• Exposure to certain hormones: Women who are exposed to certain hormones shortly before or during pregnancy have been shown to have a higher risk of delivering a baby with hypospadias.
• Family history of hypospadias: Hypospadias is more commonly found in babies with a family history of the condition.
• Exposure to certain substances during pregnancy: There is speculation about the relationship between hypospadias and maternal exposure to certain substances, such as pesticides or industrial chemicals, but further research is needed to establish a definitive link.

Symptoms

In hypospadias, the urethral opening is located on the underside of the penis rather than the top. This abnormality can occur anywhere along the underside of the penis, from below the tip to the scrotum. Hypospadias is classified based on the location of the urethral opening:

• Anterior (frontal): This includes granular and subcoronal hypospadias, where the urethral opening is near the head of the penis.
• Middle (Midshaft): The urethral opening is along the shaft of the penis.
• Posterior (back): The urethral opening is at the junction of the penis and scrotum, within the scrotum itself, or in the perineum.

Approximately 50% of hypospadias cases are anterior, 20% are middle, and 30% are posterior, with the subcoronal location being the most common among all locations. In severe cases, the urethral opening may be located between the scrotum and anus (perineum).

Men with hypospadias may experience symptoms such as:

• Urethral opening is not at the tip of the penis
• Downward curvature of the penis (chordee), which can range from mild to severe
• Urinary stream disturbances, sometimes requiring sitting to urinate
• The hooded appearance of the penis, with only the upper half covered by the foreskin or prepuce
• Incomplete descent of the testes (testicles) into the scrotum in some cases

Diagnosis

Hypospadias is typically diagnosed during the routine physical examination of newborns. During this examination, the doctor may observe that the urethral opening is not located at the tip of the penis. Additionally, the foreskin of the penis may not be fully formed, and the tip of the penis may appear open.

There are no specific laboratory tests to confirm the diagnosis of hypospadias. However, in cases where there is suspicion of developmental abnormalities in the genitalia, hormone tests may be required.

If hypospadias is detected, the doctor will refer the child to a specialist surgeon who specializes in genital or urinary system conditions, known as a pediatric urologist, for further evaluation and management.

Complications

If left untreated, hypospadias can lead to several problems later in life:

• Difficulty with sexual intercourse: Men with untreated hypospadias may experience challenges related to the shape of the penis during erection, affecting sexual function and satisfaction. Additionally, issues with ejaculation may arise.
• Difficulty urinating while standing
• Abnormal penis shape

Furthermore, complications from hypospadias therapy can occur. These may include the formation of fistulas (holes) at the bottom of the penis where the new urethral passage was created, leading to urine leakage. Additionally, there may be issues with wound healing or the development of scar tissue after surgery, which may require further surgical intervention for correction. While these complications are rare, they can impact the success of the treatment and may necessitate additional medical care.

When to see a Doctor?

Most babies with hypospadias are diagnosed shortly after birth while still in the hospital or healthcare facility. However, minor changes in the position of the urethral opening may be more difficult to identify and could be overlooked. It's best to consult a doctor if you have concerns about the shape of your child's penis or notice any issues with urination.

Additionally, if you are pregnant or planning a pregnancy, it's important to consult with a doctor to increase the likelihood of delivering a healthy baby.

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