7 Key Signs and Symptoms of Hypospadias in Boys

Hypospadias is a congenital condition affecting male babies in which the opening of the urethra (meatus) is located on the underside of the penis rather than at the tip. This birth defect occurs during fetal development when the tube that carries urine out of the body doesn’t form properly. Hypospadias is one of the most common birth defects affecting the male reproductive system, occurring in approximately 1 in every 200-300 male births.

The severity of hypospadias can vary significantly from mild cases where the opening is near the tip of the penis to more severe cases where it is located along the shaft or near the scrotum. Early identification of the signs and symptoms is crucial for proper medical evaluation and management. Understanding these indicators can help parents and caregivers seek timely medical attention for affected children.

1. Abnormal Urethral Opening Position

The most distinctive and primary symptom of hypospadias is the abnormal placement of the urethral opening. Instead of being located at the tip of the penis (glans), the meatus appears somewhere along the underside of the penis. The location can vary considerably:

• Distal hypospadias: The opening is near the head of the penis, either just below the tip or on the glans itself. This is the mildest and most common form, accounting for about 50-70% of cases.
• Midshaft hypospadias: The opening is located along the middle portion of the penile shaft. This represents approximately 20-30% of cases.
• Proximal hypospadias: The opening is positioned near the base of the penis or in the scrotal area. This is the most severe form, occurring in about 10-20% of cases.

The abnormal positioning is typically visible at birth during physical examination and is usually the first sign that alerts healthcare providers to the condition.

2. Downward Curvature of the Penis (Chordee)

Chordee is a condition where the penis curves downward, and it commonly accompanies hypospadias in approximately 15-30% of cases. This curvature occurs due to abnormal tissue development along the underside of the penis, resulting in tethering or shortening of the urethral tissue and surrounding structures.

The severity of chordee can range from mild to severe:

• Mild chordee may only be noticeable during erection or may cause minimal deviation
• Moderate to severe chordee causes significant downward bending that is visible even when the penis is flaccid
• In some cases, the curvature can also be lateral (to the side) rather than purely ventral (downward)

This curvature can potentially affect urinary stream direction and, if left uncorrected, may impact sexual function in adulthood. The presence of chordee often requires surgical correction as part of hypospadias repair.

3. Abnormal Foreskin Distribution (Dorsal Hood)

Boys with hypospadias typically exhibit an unusual distribution of foreskin, creating what medical professionals call a “dorsal hood” or “hooded prepuce.” This occurs because the foreskin fails to form properly on the underside (ventral surface) of the penis while forming normally on the top side (dorsal surface).

Characteristics of this symptom include:

• Excess foreskin gathered on the top and sides of the penis
• Little to no foreskin coverage on the underside of the penis
• The penis may appear partially circumcised even though no circumcision has been performed
• The foreskin typically forms a hood-like appearance over the glans

This distinctive foreskin pattern is often one of the first visible signs at birth and is an important diagnostic indicator. It’s crucial to note that circumcision should not be performed on boys with hypospadias, as the foreskin tissue may be needed for surgical reconstruction.

4. Abnormal Urinary Stream

The misplaced urethral opening directly affects how urine flows from the body, resulting in an abnormal urinary stream. This symptom becomes more noticeable as the child grows and begins toilet training.

Common urinary stream abnormalities associated with hypospadias include:

• Downward deflection: The urine stream points downward rather than forward, making it difficult for the child to urinate standing up
• Spraying or splaying: Instead of a single, focused stream, urine may spray in multiple directions
• Poor stream control: Difficulty directing the stream into a toilet, leading to potential hygiene issues
• Sitting to urinate: Boys with hypospadias often need to sit down to urinate, even as they get older, because standing causes urine to flow onto their legs or feet

The severity of urinary stream problems typically correlates with the location of the urethral opening. More proximally located openings (those closer to the base) generally cause more significant stream abnormalities.

5. Unusual Appearance of the Penis

Beyond the specific abnormalities already mentioned, the overall appearance of the penis in boys with hypospadias often differs from typical anatomy. Parents may notice that something looks “different” even if they cannot identify the specific abnormalities.

Visual characteristics may include:

• Flattened or broad glans: The head of the penis may appear wider or flatter than normal
• Asymmetry: The penis may appear asymmetrical, with one side looking different from the other
• Incomplete ventral groove: The underside of the penis may lack the normal median raphe (the line running along the underside)
• Thin or narrow urethral opening: The meatus may appear smaller than typical or have an unusual shape
• Webbed appearance: Some cases involve penoscrotal webbing, where skin from the scrotum extends too far up onto the underside of the penis

These visual differences are usually apparent from birth and remain consistent as the child grows, though they may become more noticeable during physical development.

6. Meatal Stenosis or Narrowing

Meatal stenosis refers to the narrowing of the urethral opening, which can occur as a complication in some boys with hypospadias. When the urethral opening is abnormally positioned and not protected by the foreskin as it normally would be, the meatus may become irritated, inflamed, or scarred.

Signs of meatal stenosis include:

• Thin or weak urinary stream: The flow of urine appears unusually thin or takes longer than expected
• Straining to urinate: The child may need to push or strain to empty the bladder
• Upward deflection of stream: In some cases, the narrowed opening causes the stream to shoot upward
• Prolonged urination time: It takes longer than normal to completely empty the bladder
• Pain or discomfort: Some children experience discomfort during urination due to the narrowed opening
• Frequent urination: Incomplete bladder emptying may lead to more frequent trips to the bathroom

Meatal stenosis can develop over time due to chronic exposure and irritation of the abnormally positioned urethral opening. Early identification and monitoring can help prevent complications.

7. Associated Genital Abnormalities

Hypospadias rarely occurs in complete isolation. Many boys with this condition have additional genital abnormalities or developmental differences that may be detected during physical examination.

Commonly associated conditions include:

• Undescended testicles (cryptorchidism): One or both testicles fail to descend into the scrotum, occurring in approximately 9-15% of boys with hypospadias
• Inguinal hernia: A higher incidence of hernias is observed in boys with hypospadias compared to the general population
• Hydrocele: Fluid accumulation around the testicle occurs more frequently in affected boys
• Small penis (micropenis): In some cases, particularly with proximal hypospadias, the penis may be smaller than average
• Bifid scrotum: The scrotum may be divided or appear split in severe cases
• Penoscrotal transposition: Rarely, the scrotum is positioned abnormally high on the shaft of the penis

When multiple genital abnormalities are present, particularly in severe cases of proximal hypospadias, further evaluation may be needed to rule out other underlying conditions or disorders of sexual development.

Main Causes of Hypospadias

While the exact cause of hypospadias remains unclear in most cases, research has identified several factors that may contribute to its development during fetal formation. Understanding these potential causes can help identify at-risk pregnancies and guide medical counseling.

Genetic Factors

Heredity plays a significant role in hypospadias development. Studies show that boys with a family history of the condition have a higher risk. If a father has hypospadias, his sons have approximately a 8-20% chance of being affected. When a brother has the condition, the risk increases to about 12-17%. Researchers have identified several genes involved in genital development that, when mutated or altered, may lead to hypospadias.

Hormonal Influences

Normal penile development depends on adequate production and function of male hormones (androgens), particularly testosterone and dihydrotestosterone (DHT), during critical periods of fetal development (typically between 8-14 weeks of gestation). Disruptions in hormone production, metabolism, or receptor function can interfere with proper urethral formation. Conditions affecting the fetal endocrine system or placental hormone production may contribute to hypospadias development.

Maternal Factors

Various maternal factors during pregnancy have been associated with increased hypospadias risk:

• Advanced maternal age: Women over 35-40 years old may have slightly increased risk
• Assisted reproductive technology: In vitro fertilization (IVF) and other fertility treatments have been linked to higher rates
• Multiple pregnancies: Twin or multiple gestations show slightly elevated rates
• Maternal health conditions: Certain conditions like diabetes or obesity may increase risk

Environmental and Medication Exposures

Exposure to certain substances during pregnancy may interfere with normal genital development:

• Endocrine-disrupting chemicals: Substances that interfere with hormone function, including certain pesticides, plasticizers, and industrial chemicals
• Medications: Some medications taken during early pregnancy, including certain anti-epileptic drugs and some fertility medications, have been studied for potential associations
• Dietary factors: Some research suggests that maternal diet and nutrition during pregnancy may play a role

Low Birth Weight and Prematurity

Babies born prematurely or with low birth weight show higher rates of hypospadias. This may relate to incomplete genital development or reflect underlying factors affecting both fetal growth and genital formation.

Multifactorial Origin

In most cases, hypospadias likely results from complex interactions between multiple genetic and environmental factors rather than a single cause. This multifactorial nature means that no single factor can be identified as “the cause” in individual cases, and the condition likely develops differently in different individuals.

Prevention Strategies

Because hypospadias is a congenital condition that develops during early fetal development and has no clearly identified single cause, there are no guaranteed methods to prevent it. However, certain measures may potentially reduce risk or optimize conditions for normal fetal development.

Preconception and Early Pregnancy Care

Women planning pregnancy or in early pregnancy can take several steps that support healthy fetal development:

• Folic acid supplementation: Taking 400-800 mcg of folic acid daily before conception and during early pregnancy supports normal development
• Prenatal vitamins: Comprehensive prenatal vitamins provide essential nutrients needed for fetal development
• Maintain healthy weight: Achieving a healthy weight before pregnancy may reduce risk
• Manage chronic conditions: Proper management of diabetes, thyroid disorders, and other health conditions before and during pregnancy

Avoid Harmful Exposures

Pregnant women should minimize exposure to substances that may interfere with fetal development:

• Avoid unnecessary medications, especially during the first trimester; always consult healthcare providers before taking any medication
• Limit exposure to pesticides, industrial chemicals, and other potential endocrine disruptors
• Avoid alcohol, tobacco, and recreational drugs during pregnancy
• Be cautious with personal care products and household chemicals that may contain hormone-disrupting substances

Regular Prenatal Care

Consistent prenatal care allows healthcare providers to monitor fetal development and maternal health, identify potential issues early, and provide appropriate guidance throughout pregnancy. While prenatal ultrasound typically cannot detect hypospadias before birth, comprehensive care supports overall healthy development.

Genetic Counseling

Families with a history of hypospadias or other genital abnormalities may benefit from genetic counseling to understand recurrence risks and discuss family planning options. This is particularly relevant when hypospadias occurs with other birth defects or syndromes.

It’s important to emphasize that even with optimal care and precautions, hypospadias can still occur, and parents should not blame themselves if their child is born with this condition. Most cases occur without any identifiable risk factors or preventable causes.

Frequently Asked Questions (FAQ)

Can hypospadias be detected before birth?

Hypospadias is rarely detected on prenatal ultrasound. Most cases are identified at birth during the initial physical examination of the newborn. The condition becomes apparent when the healthcare provider examines the baby’s genitals.

Is hypospadias a serious condition?

The seriousness varies depending on severity. Mild cases near the tip of the penis may cause minimal functional problems, while severe cases involving the base of the penis or scrotum can significantly affect urination and future sexual function. Most cases can be successfully managed with appropriate medical care.

Will my son with hypospadias be able to father children?

Most males with hypospadias, especially those with mild to moderate forms that have been appropriately corrected, have normal fertility and can father children. In severe cases, particularly those with associated conditions or inadequate correction, there may be some impact on fertility, but this varies individually.

Should a baby with hypospadias be circumcised?

No, babies with hypospadias should not undergo circumcision. The foreskin tissue is often needed for surgical reconstruction of the urethra. Healthcare providers typically advise parents to postpone any elective surgery on the penis until after hypospadias repair is completed.

At what age should hypospadias be corrected?

Most pediatric urologists recommend surgical correction between 6 and 18 months of age. This timing balances several factors: the penis is large enough for surgery, the child is too young to remember the procedure, and correction occurs before toilet training begins. However, the optimal timing depends on individual circumstances and should be discussed with a specialist.

Can hypospadias occur with other birth defects?

Yes, hypospadias can occur alongside other congenital conditions. Associated abnormalities may include undescended testicles, inguinal hernias, or hydroceles. In rare cases, hypospadias may be part of a genetic syndrome or disorder of sexual development, which is why thorough evaluation is important.

Is hypospadias hereditary?

There is a genetic component to hypospadias. Boys with affected fathers or brothers have a higher risk of developing the condition compared to the general population. However, the inheritance pattern is complex and involves multiple genes, so having a family history doesn’t guarantee that subsequent children will be affected.

Will hypospadias affect my child’s ability to urinate normally?

Untreated hypospadias typically affects the direction and sometimes the force of the urinary stream. Boys may need to sit to urinate or may experience spraying. After successful surgical correction, most boys can urinate standing with a normal forward stream, though outcomes depend on the initial severity and surgical results.

Does hypospadias cause pain?

Hypospadias itself typically does not cause pain. However, associated complications such as meatal stenosis (narrowing of the opening) or urinary tract infections may cause discomfort. After surgical correction, there may be temporary pain during the healing process, which can be managed with appropriate pain relief as advised by healthcare providers.

Can hypospadias get worse over time if left untreated?

The position of the urethral opening itself doesn’t change or worsen over time. However, complications can develop, including meatal stenosis, increased curvature becoming more apparent with growth, difficulty with hygiene, recurrent urinary tract infections, and psychological impacts as the child becomes aware of the difference. This is why evaluation and appropriate management are important.

References:

• Mayo Clinic – Hypospadias
• Boston Children’s Hospital – Hypospadias
• Urology Care Foundation – Hypospadias
• National Institute of Child Health and Human Development – Hypospadias
• Centers for Disease Control and Prevention – Hypospadias