Now Know All about Hypospadias: Cause, Symptoms, Diagnosis, Treatment

Hypospadias is a common birth defect in male infants where the opening of the urethra is located on the underside of the penis rather than at the tip. The urethra is the tube that carries urine from the bladder to the outside of the body. In hypospadias, the opening can be located anywhere from just below the tip of the penis to the scrotum. It occurs in about 1 in every 200 to 300 male births, making it one of the most frequent congenital abnormalities in boys.

Early diagnosis and surgical correction, usually in infancy or early childhood, can help restore the function and appearance of the penis, allowing for normal urination and sexual function later in life. (Source)

What is Hypospadias?

It is a condition that affects the development of the male genitalia. In boys with it, the urethral opening, or meatus, is not located at the tip of the penis. Depending on the severity, the opening may be positioned along the shaft of the penis, near the scrotum, or at other points on the underside. The foreskin is often incompletely formed on the underside of the penis, and in some cases, the penis may curve downward (a condition known as chordee).

There are three main types of it based on the location of the urethral opening:

1. Subcoronal: The opening is near the head of the penis.
2. Midshaft: The opening is located along the shaft.
3. Penoscrotal: The opening is located where the penis and scrotum meet. (Source)

How is Hypospadias Caused?

The exact cause of it is not fully understood, but it is believed to be influenced by a combination of genetic and environmental factors. It occurs when the urethra fails to develop completely during fetal growth, typically during the 8th to 14th week of pregnancy. Hormonal imbalances during this period can disrupt the development of the penis and urethra.

Environmental factors during pregnancy, such as exposure to certain hormones or chemicals, have also been linked to an increased risk of hypospadias. For example, mothers who are exposed to phthalates (chemicals found in plastics) or certain hormonal treatments during pregnancy may have a higher likelihood of giving birth to a child with this condition. (Source)

History and Science of Hypospadias

The condition has been recognized for centuries, with references to it appearing in ancient Greek and Roman medical texts. In modern medical science, it is a well-researched condition, with significant advances in surgical techniques over the past century.

The first descriptions of hypospadias and its surgical repair date back to ancient Greece, where physicians like Hippocrates documented early forms of treatment. The condition was studied more systematically in the 19th and 20th centuries when modern surgical techniques for genital reconstruction were developed. Today, hypospadias repair is one of the most common pediatric surgeries performed by urologists.

The development of it is linked to the androgen (male hormone) levels during pregnancy, which guide the formation of the external genitalia. Disruptions in hormone levels or receptor activity during the critical weeks of gestation are believed to cause the incomplete formation of the urethra. (Source)

Risk Factors for Hypospadias

Several factors may increase the risk of a baby being born with hypospadias, including:

1. Genetics: A family history of hypospadias increases the risk, suggesting a genetic component to the condition. Fathers or siblings with hypospadias make it more likely for the condition to recur in other male offspring.
2. Maternal Age: Women over the age of 35 may have a slightly higher risk of giving birth to a child with hypospadias.
3. Hormonal Treatments: Women who use certain hormones, such as progesterone, during pregnancy to prevent miscarriage, may have an increased risk of having a child with hypospadias.
4. Environmental Exposure: Exposure to chemicals like phthalates and pesticides during pregnancy has been associated with an increased risk of hypospadias. These substances can interfere with hormonal balances that are critical for genital development.
5. Assisted Reproductive Technology (ART): Some studies have shown that boys conceived using ART, such as in vitro fertilization (IVF), may have a higher likelihood of being born with hypospadias. (Source)

Treatment for Hypospadias

Hypospadias is treated through surgery, typically performed when the child is between 6 to 18 months of age. The goal of surgery is to create a functional urethra that opens at the tip of the penis and to correct any curvature or abnormal appearance.

The surgery involves the following steps:

• Urethral Reconstruction: The surgeon reconstructs the urethra, extending it to the tip of the penis.
• Correction of Chordee: If the penis is curved, the surgeon may straighten it.
• Cosmetic Repair: The foreskin is usually removed or reconstructed to give the penis a more typical appearance.

Most boys with hypospadias who undergo surgery will have normal urinary function and a normal-looking penis. In more severe cases, multiple surgeries may be required.

Post-surgery, the child may need to wear a catheter for a short time while the surgical site heals. (Source)

Can Hypospadias Be Prevented?

Currently, there is no definitive way to prevent hypospadias, as the exact cause remains unclear. However, some steps may reduce the risk of having a child with the condition:

1. Avoiding Harmful Chemicals: Pregnant women should avoid exposure to known environmental hazards like pesticides and chemicals such as phthalates.
2. Care with Medications: Pregnant women should consult their doctor before taking any medications, especially hormone treatments, which could potentially impact fetal development.
3. Healthy Pregnancy: Maintaining a healthy lifestyle, including proper prenatal care and avoiding smoking or alcohol, may help reduce the risk of birth defects. (Source)

Is Hypospadias Hereditary?

Yes, hypospadias can be hereditary. Having a family history of the condition increases the likelihood that it will appear in subsequent generations. Genetic factors play a significant role in the development of hypospadias, but environmental and hormonal factors also contribute.

Can Hypospadias Be Cured?

Hypospadias can be effectively corrected through surgery, and most boys who undergo the procedure will have normal function and appearance afterward. While there is no “cure” in the traditional sense, since the condition is a structural birth defect, surgical correction can lead to excellent long-term outcomes. The earlier the surgery is performed, the better the chances of complete functional recovery. (Source)

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Conclusion

Hypospadias is a common congenital condition affecting the urethral development in male infants. While its exact cause is not fully understood, genetic and environmental factors are believed to play significant roles. Fortunately, modern surgical techniques can effectively correct the condition, allowing for normal urinary function and appearance. Early diagnosis and intervention are crucial for the best outcomes, and while prevention methods remain limited, reducing environmental exposure and maintaining a healthy pregnancy can help minimize risk factors.