Hypospadias: Comprehensive Diagnosis and Treatment Options

Introduction

Hypospadias is a congenital condition that affects the development of the male urethra, the tube responsible for carrying urine from the bladder to the outside of the body. This condition has been recognized for centuries, with descriptions found in ancient medical texts. Hypospadias occurs when the urethral opening is located on the underside of the penis rather than at the tip. Although present at birth, the severity of the condition can vary, and treatment options have advanced significantly over time. This article provides a comprehensive overview of hypospadias, including risk factors, symptoms, diagnostic tests, treatment options, and home care strategies. Whether you or a loved one has been diagnosed with hypospadias, this guide will help you understand the condition and the available care options.

What is Hypospadias?

Hypospadias is a congenital condition in which the urethral opening is located on the underside of the penis. This article will explore its risk factors, symptoms, diagnostic tests, medications, surgical procedures, and home care strategies to help manage symptoms effectively.

Description of Hypospadias

Hypospadias is a birth defect that affects the male urethra and penis. In a typical male, the urethral opening is located at the tip of the penis. However, in individuals with hypospadias, the opening can be found anywhere along the underside of the penis, from just below the tip to the scrotum. The severity of hypospadias is classified based on the location of the urethral opening. Mild cases may have the opening near the tip, while severe cases may have it near the base or even within the scrotum.

The condition can also affect the appearance of the penis, causing it to curve downward, a condition known as chordee. This curvature can become more pronounced during an erection and may cause discomfort or difficulty with urination and sexual function if left untreated. Hypospadias is typically diagnosed at birth during a physical examination.

Hypospadias is one of the most common congenital abnormalities in males, affecting approximately 1 in every 200 to 300 live male births. The exact cause is not fully understood but is believed to result from a combination of genetic and environmental factors. Early diagnosis and treatment, typically through surgery, can correct the condition and allow for normal urination and sexual function.

Risk Factors for Developing Hypospadias

Lifestyle Risk Factors

While hypospadias is primarily a congenital condition, certain lifestyle factors during pregnancy may increase the risk. Maternal exposure to chemicals, such as endocrine disruptors found in plastics and pesticides, has been linked to a higher risk of hypospadias. Additionally, smoking during pregnancy, excessive alcohol consumption, and poor nutrition may contribute to its development. Maintaining a healthy lifestyle during pregnancy, including avoiding harmful substances and following a balanced diet, can help reduce the risk of congenital abnormalities, including hypospadias.

Medical Risk Factors

Several medical conditions during pregnancy can increase the likelihood of a baby being born with hypospadias. For instance, mothers with diabetes, particularly gestational diabetes, may have a higher risk. The use of certain medications during pregnancy, such as hormones or fertility treatments, has also been associated with an increased risk. Expectant mothers should discuss any medications they are taking with their healthcare provider to ensure they are safe during pregnancy.

Genetic and Age-Related Risk Factors

Genetics play a significant role in the development of hypospadias. If a close male relative, such as the father or a brother, has been diagnosed with hypospadias, the risk of the condition in a newborn male is higher. Additionally, advanced maternal age (typically over 35 years) has been associated with an increased risk of congenital abnormalities, including hypospadias. While genetic factors cannot be controlled, understanding the family history can help parents make informed decisions about prenatal care and early intervention if necessary.

Clinical Manifestations of Hypospadias

Abnormal Urinary Stream

Approximately 80% of patients with hypospadias experience an abnormal urinary stream. This occurs because the urethral opening is not at the tip of the penis, altering the direction and force of urine flow. Depending on the severity, the stream may be weak, spray in multiple directions, or be difficult to control. This symptom is often noticed during infancy or early childhood when parents observe unusual urination patterns. In severe cases, the abnormal stream can lead to difficulty with toilet training and may require surgical correction to restore normal urination.

Urethral Opening Location

An abnormally located urethral opening is present in 100% of hypospadias cases. The opening can be found anywhere along the underside of the penis, from just below the tip (mild hypospadias) to the scrotum or perineum (severe hypospadias). The location of the urethral opening is crucial in determining the severity of the condition and the type of treatment required. In milder cases, the opening may be near the tip, causing minimal disruption to urination. In more severe cases, the opening may be located further down, leading to significant functional and cosmetic concerns.

Chordee

Chordee, or the downward curvature of the penis, occurs in about 30-40% of hypospadias patients. This condition is caused by abnormal tissue development on the underside of the penis, which pulls it downward, especially during an erection. Chordee can lead to difficulties with urination and sexual function later in life if left untreated. The severity of chordee often correlates with the severity of hypospadias, with more pronounced curvature seen in cases where the urethral opening is located further from the tip. Surgical correction is often recommended to straighten the penis and improve function.

Penile Curvature

Penile curvature, which may or may not be associated with chordee, is present in approximately 10-20% of hypospadias cases. This curvature can occur due to abnormal development of the penile tissues or the presence of fibrous bands that cause the penis to bend. Like chordee, penile curvature can affect both urination and sexual function. The degree of curvature varies, with some patients experiencing only mild bending, while others may have more significant deformities. Surgical intervention is often required to correct the curvature and ensure normal function.

Difficulty Urinating

Difficulty urinating is reported in about 50% of patients with moderate to severe hypospadias. This can manifest as straining, a weak stream, or the need to sit down to urinate. The abnormal location of the urethral opening and any associated curvature can make it challenging for patients to direct their urine flow properly. In some cases, this difficulty can lead to urinary retention or incomplete bladder emptying, increasing the risk of urinary tract infections (UTIs). Surgical correction of the urethral opening can help alleviate these symptoms and improve urinary function.

Recurrent Urinary Tract Infections (UTIs)

Recurrent UTIs occur in about 20% of patients with hypospadias, particularly in those with more severe forms. The abnormal location of the urethral opening can make it easier for bacteria to enter the urinary tract, leading to infections. Additionally, difficulty urinating or incomplete bladder emptying can contribute to UTIs. Symptoms of a UTI may include pain or burning during urination, frequent urination, and fever. In cases where recurrent UTIs are a concern, surgical correction of the urethral opening may be necessary to reduce the risk of infection.

Abnormal Foreskin

In approximately 90% of hypospadias cases, the foreskin is incomplete or abnormally developed. This is often referred to as a “dorsal hood” because the foreskin covers only the top of the penis, leaving the underside exposed. The abnormal foreskin is a cosmetic concern for many parents and patients, but it can also contribute to hygiene difficulties. In some cases, the foreskin may be used during surgical correction to reconstruct the urethra or improve the appearance of the penis. Parents should discuss foreskin management options with their healthcare provider.

Scrotal Abnormalities

Scrotal abnormalities, such as a bifid or split scrotum, occur in about 10-15% of patients with severe hypospadias. These abnormalities are often associated with more proximal forms of hypospadias, where the urethral opening is located near the scrotum or perineum. A bifid scrotum can affect the appearance of the genitalia and may be associated with other developmental issues. Surgical correction may be recommended to address both functional and cosmetic concerns related to scrotal abnormalities.

Associated Cryptorchidism

Cryptorchidism, or undescended testicles, is present in about 10% of hypospadias patients. This condition occurs when one or both testicles fail to descend into the scrotum during fetal development. Cryptorchidism is more common in patients with severe hypospadias and may require surgical intervention to bring the testicles into the scrotum. If left untreated, cryptorchidism can increase the risk of infertility and testicular cancer later in life. Early diagnosis and treatment are important to reduce these risks.

Hypospadias Severity Variations

Hypospadias can vary in severity, with mild cases affecting only the location of the urethral opening and more severe cases involving significant penile curvature, chordee, and scrotal abnormalities. The severity is typically classified based on the location of the urethral opening: distal (near the tip of the penis), midshaft, or proximal (near the scrotum or perineum). The more proximal the urethral opening, the more likely the patient is to experience complications such as difficulty urinating, recurrent UTIs, and sexual dysfunction. Treatment plans are tailored to the severity of the condition, with more severe cases often requiring multiple surgical procedures.

Diagnostic Evaluation of Hypospadias

Hypospadias is typically diagnosed shortly after birth during a physical examination. In most cases, the abnormal location of the urethral opening is easily visible, and the presence of other associated symptoms, such as penile curvature or abnormal foreskin, can further confirm the diagnosis. However, in some cases, additional diagnostic tests may be required to assess the severity of the condition and identify any associated abnormalities, such as cryptorchidism or urinary tract issues. These tests help healthcare providers develop an appropriate treatment plan and determine whether surgical intervention is necessary.

Ultrasound

Ultrasound is a non-invasive imaging test that uses sound waves to create images of internal structures. In the context of hypospadias, an ultrasound may be performed to evaluate the urinary tract, including the bladder, kidneys, and ureters. This test is particularly useful in cases where there is concern about urinary tract abnormalities or recurrent UTIs. The ultrasound is performed by placing a small handheld device called a transducer on the skin, which sends sound waves into the body and captures the returning echoes to create an image.

Results that Indicate Hypospadias

In patients with hypospadias, an ultrasound may reveal abnormalities in the urinary tract, such as a dilated bladder or ureters, which can be caused by difficulty urinating or incomplete bladder emptying. These findings may indicate that the hypospadias is affecting urinary function and may require surgical correction. If the ultrasound shows no abnormalities, but the patient continues to experience symptoms such as recurrent UTIs or difficulty urinating, further evaluation may be necessary to determine the underlying cause.

Voiding Cystourethrogram (VCUG)

A voiding cystourethrogram (VCUG) is a specialized X-ray test that evaluates the bladder and urethra while the patient is urinating. During the test, a catheter is inserted into the bladder, and a contrast dye is injected to fill the bladder. X-ray images are then taken as the patient urinates, allowing healthcare providers to assess the flow of urine and identify any abnormalities in the urinary tract. This test is particularly useful in patients with hypospadias who are experiencing recurrent UTIs or difficulty urinating.

Results that Indicate Hypospadias

In patients with hypospadias, a VCUG may show abnormal urine flow or reflux of urine from the bladder back into the ureters, which can increase the risk of UTIs. These findings suggest that the hypospadias is affecting urinary function and may require surgical intervention. If the VCUG results are normal, but the patient continues to experience symptoms, further testing may be needed to rule out other causes of urinary dysfunction.

MRI

Magnetic resonance imaging (MRI) is a non-invasive imaging test that uses magnetic fields and radio waves to create detailed images of the body’s internal structures. In the context of hypospadias, an MRI may be used to evaluate the anatomy of the penis, urethra, and surrounding tissues. This test is particularly useful in complex cases where there is significant penile curvature or other associated abnormalities. The MRI is performed by having the patient lie still in a large machine that generates the magnetic field, and the images are then analyzed by a radiologist.

Results that Indicate Hypospadias

An MRI may reveal abnormalities in the structure of the penis, such as fibrous bands or abnormal tissue development, which can contribute to penile curvature or chordee. These findings can help healthcare providers determine the severity of the hypospadias and plan for surgical correction. If the MRI shows no abnormalities, but the patient continues to experience symptoms, further evaluation may be necessary to identify the underlying cause.

Urethroscopy

Urethroscopy is a procedure that involves inserting a small, flexible tube with a camera (urethroscope) into the urethra to visualize the inside of the urethra and bladder. This test is used to assess the anatomy of the urethra and identify any abnormalities that may be contributing to symptoms such as difficulty urinating or recurrent UTIs. Urethroscopy is typically performed under local or general anesthesia, depending on the patient’s age and comfort level.

Results that Indicate Hypospadias

In patients with hypospadias, urethroscopy may reveal an abnormally narrow or misshapen urethra, which can contribute to difficulty urinating or recurrent UTIs. These findings suggest that the hypospadias is affecting urinary function and may require surgical correction. If the urethroscopy results are normal, but the patient continues to experience symptoms, further testing may be needed to identify the underlying cause.

What if All Tests are Negative but Symptoms Persist?

If all diagnostic tests come back negative, but the patient continues to experience symptoms such as difficulty urinating or recurrent UTIs, it is important to follow up with a healthcare provider. In some cases, symptoms may be caused by other underlying conditions that were not detected during the initial evaluation. Additional testing or referral to a specialist, such as a pediatric urologist, may be necessary to identify the cause of the symptoms and develop an appropriate treatment plan.

Treatment Options for Hypospadias

Medications for Hypospadias Treatment

Topical Estrogen

Topical estrogen is a hormone-based cream or gel applied to the skin. It promotes tissue growth and improves skin elasticity around the urethra and penis.

This medication is often used when the urethral opening is narrow or when additional tissue growth is needed before surgery. It is typically prescribed to enhance surgical outcomes.

Patients can expect improved tissue flexibility and growth within a few weeks, making surgical correction easier and more effective.

Testosterone

Testosterone, administered either topically or via injection, stimulates penile growth in boys with hypospadias. It helps increase penis size, which can facilitate surgical correction.

Testosterone is usually prescribed before surgery when the penis is underdeveloped. While not a first-line treatment, it is used when necessary to improve surgical outcomes.

Patients may notice penile growth within a few weeks, which can enhance the success of surgical procedures.

Dexamethasone

Dexamethasone is a corticosteroid that reduces inflammation and swelling. It is sometimes used after surgery to manage post-operative inflammation in hypospadias patients.

This medication is typically prescribed post-surgery to reduce swelling and promote healing. It is not a first-line treatment but is used as needed to manage post-surgical complications or discomfort.

Patients can expect reduced swelling and faster healing within a few days of starting dexamethasone.

Corticosteroids

Corticosteroids are anti-inflammatory medications used to reduce swelling and inflammation in the genital area. They are sometimes prescribed after surgery to aid in recovery.

These medications are used post-operatively to manage inflammation and promote healing. While not a primary treatment, they play a crucial role in post-surgical recovery.

Patients can expect reduced swelling and discomfort within a few days, leading to a smoother recovery process.

Antibiotics

Antibiotics are used to prevent or treat infections. In hypospadias cases, they are often prescribed after surgery to prevent infection at the surgical site.

Antibiotics are a standard part of post-operative care to reduce the risk of infection.

Patients can expect a reduced risk of infection and a smoother recovery when antibiotics are used as directed.

Pain Relievers

Pain relievers, such as acetaminophen or ibuprofen, help manage discomfort after surgery by reducing pain and swelling.

These medications are typically used post-surgery to manage pain and are a standard part of post-operative care.

Patients can expect pain relief within 30 minutes to an hour, making recovery more comfortable.

Antihistamines

Antihistamines reduce itching and allergic reactions. They may be used if a patient experiences itching or irritation after surgery.

These medications are used as needed to manage itching or allergic reactions to surgical dressings or medications. While not a primary treatment, they can improve comfort during recovery.

Patients can expect relief from itching and irritation within a few hours of taking antihistamines.

Alpha-Adrenergic Agonists

Alpha-adrenergic agonists help relax the muscles in the bladder and urethra. They may be used when a patient has difficulty urinating after surgery.

These medications are typically used post-operatively if a patient experiences urinary retention or difficulty urinating. They are not a first-line treatment but are used as needed to manage complications.

Patients can expect improved urinary flow within a few hours of taking alpha-adrenergic agonists.

Antispasmodics

Antispasmodics reduce muscle spasms in the bladder and urethra, relieving discomfort or difficulty urinating after surgery.

These medications are used post-operatively to manage bladder spasms or discomfort. While not a primary treatment, they are used as needed to improve comfort during recovery.

Patients can expect relief from spasms and improved comfort within a few hours of taking antispasmodics.

Hypospadias Surgical Procedures

Urethroplasty

Urethroplasty is a surgical procedure that reconstructs or repairs the urethra. It is the most common surgery used to correct hypospadias.

This procedure is typically performed in moderate to severe cases, where the urethral opening is far from the tip of the penis. It is often done in early childhood to prevent complications later in life.

Patients can expect a fully functional urethra and improved cosmetic appearance after surgery. Recovery usually takes a few weeks, with full results visible within a few months.

Meatoplasty

Meatoplasty is a surgical procedure that widens the urethral opening (meatus). It is used when the opening is too narrow, causing difficulty with urination.

This procedure is often performed in mild hypospadias cases or as a secondary procedure after urethroplasty. It is a relatively simple surgery with a short recovery time.

Patients can expect improved urinary flow and reduced discomfort, with full recovery typically occurring within a few weeks.

Circumcision

Circumcision involves removing the foreskin from the penis. In hypospadias cases, circumcision is often delayed until after corrective surgery, as the foreskin may be needed for reconstruction.

Circumcision is typically performed after hypospadias repair, especially if the foreskin is used during surgery. While not a primary treatment, it is often part of the overall surgical plan.

Patients can expect improved hygiene and a reduced risk of infections after circumcision, with recovery taking a few weeks.

Improving Hypospadias and Seeking Medical Help

While surgical correction is the most effective treatment for hypospadias, some home remedies can help manage symptoms and improve comfort before and after surgery:

1. Proper Hygiene: Keeping the genital area clean helps prevent infections and reduce discomfort.
2. Warm Baths: Soaking in a warm bath can relieve discomfort and reduce swelling after surgery.
3. Avoiding Irritants: Avoid harsh soaps and chemicals to prevent irritation and promote healing.
4. Loose Clothing: Wearing loose-fitting clothing reduces friction and discomfort in the genital area.

Seek medical help if you notice signs of infection, such as redness, swelling, or discharge, or if your child has difficulty urinating. Telemedicine offers a convenient way to consult healthcare providers from home. Through virtual visits, you can discuss symptoms, receive treatment guidance, and even get prescriptions if needed.

Living with Hypospadias: Tips for Better Quality of Life

Living with hypospadias can be challenging, but with proper treatment and care, most individuals can lead normal, healthy lives. Here are some tips for improving quality of life:

1. Follow Post-Surgical Care Instructions: Adhering to your doctor’s recommendations after surgery is crucial for a smooth recovery.
2. Regular Follow-Ups: Regular check-ups with your healthcare provider help monitor progress and address concerns early.
3. Emotional Support: Seek emotional support from family, friends, or counseling to cope with stress or anxiety related to the condition.
4. Education: Educating yourself and your child about hypospadias can reduce anxiety and empower you to make informed treatment decisions.

Conclusion

Hypospadias is a congenital condition affecting the placement of the urethral opening in males. While it can cause complications with urination and sexual function, early diagnosis and treatment can significantly improve outcomes. Surgical correction is the most common and effective treatment, with most patients experiencing full recovery and normal function.

Early intervention is key to preventing complications and ensuring the best possible outcome. If you or your child has been diagnosed with hypospadias, consult a healthcare provider to discuss treatment options. Our telemedicine practice offers convenient, accessible care, allowing you to consult with a doctor from the comfort of your home. Don’t hesitate to reach out for guidance and support.

James Kingsley

Learn More