Hypospadias: Symptoms, Types, Causes and Treatment

Hypospadias is a common congenital condition affecting boys and men, characterized primarily by an abnormal location of the urethral opening on the underside of the penis. While often diagnosed at birth, its impact can extend into adolescence and adulthood, affecting urinary and sexual function, as well as self-esteem. Understanding the symptoms, various types, underlying causes, and modern treatment options is crucial for patients, parents, and healthcare providers navigating this lifelong condition.

Symptoms of Hypospadias

Hypospadias presents with a range of symptoms that may affect both physical function and psychosocial well-being. Recognizing these symptoms early can guide timely intervention and support better long-term outcomes.

Symptom	Description	Frequency/Severity	Source(s)
Abnormal Meatus	Urethral opening located on underside of penis (glans, shaft, scrotum)	Most Common	6 9 20
Curvature	Downward bend of penis (chordee), especially during erection	Mild to Severe	6 9 20
Spraying/Stream	Deflected or spraying urinary stream, difficulty urinating while standing	Common	2 4 20
Terminal Dribble	Dribbling at end of urination, incomplete emptying	More with severe types	2 4
Cosmetic Issues	Unusual appearance, ventrally hooded foreskin, dissatisfaction	Variable, more in youth	1 4 5 20
Sexual Difficulties	Penile length dissatisfaction, coital pain, inhibited sexual contact	Some adults, severe types	1 4 20
Urinary Obstruction	Difficulty or straining to urinate, obstructive symptoms	Increases with age	1 4
Psychosocial	Behavioral/emotional concerns, self-esteem, anxiety	Occasional	3 5 20

Table 1: Key Symptoms

Physical Manifestations

Abnormal Urethral Opening:
The hallmark of hypospadias is an ectopic urethral opening, typically found anywhere along the underside of the penis—from just below the tip (glanular) to the perineum in severe cases. This abnormality may be accompanied by a ventrally hooded foreskin, often prompting early recognition during infancy 6 9 20.

Penile Curvature (Chordee):
Chordee, or a downward bend of the penis, is common, especially in proximal (more severe) forms. Chordee can interfere with normal urination and, later, sexual activity 6 9 20.

Urinary Problems:
Children and adults with hypospadias may have difficulty directing their urinary stream, often experiencing spraying or deflection. Severe cases may result in weak stream, terminal dribbling, or the need to manually squeeze the urethra after voiding to clear residual urine. Some report obstructive symptoms or straining, particularly as they age 2 4.

Cosmetic and Functional Concerns

Appearance:
The ventrally hooded foreskin and abnormal meatus can be distressing for both parents and affected individuals. Cosmetic dissatisfaction is more commonly reported during youth, when issues of body image and self-esteem are heightened 1 4 5 20.

Sexual and Psychosocial Impact:
In adolescence and adulthood, some men may report dissatisfaction with penile length, pain during intercourse, or inhibition in pursuing sexual relationships. While many achieve satisfactory sexual function, psychological effects such as anxiety or self-consciousness may persist, especially in those with more severe forms 1 3 4 5 20.

Behavioral and Emotional Symptoms:
Although most boys show normal emotional development, some studies suggest a higher prevalence of anxiety or obsessive-compulsive symptoms, particularly if surgery is performed later in childhood. Ongoing monitoring of emotional well-being is recommended 3 5.

Types of Hypospadias

Hypospadias is classified based on the location of the urethral opening and associated structural differences. Understanding these distinctions is crucial for diagnosis, management, and outcome prediction.

Type	Meatus Location	Associated Features	Source(s)
Glanular	Near tip (glands)	Usually mild, minimal curvature	7 9 10 20
Coronal	Coronal sulcus (just below)	Mild, little or no chordee	7 9 10
Subcoronal	Below coronal sulcus	Often mild-moderate	7 9 10
Midshaft	Along penile shaft	Variable curvature, moderate	1 7 9 10
Penoscrotal	Junction of penis & scrotum	More severe, marked chordee	4 7 9 10
Scrotal/Perineal	In scrotum/perineum	Most severe, severe chordee	7 8 9 10
Distal	Glanular, coronal, subcoronal	70–75% of cases, less severe	7 9 20
Proximal	Midshaft, penoscrotal, scrotal	~25–30%, more complex	1 7 9 20
"Hypospadias Cripple"	Failed previous repairs	Complex, variable complications	9

Table 2: Hypospadias Types and Features

Classification by Meatus Location

Distal Hypospadias:
The majority (about 70–75%) of cases are distal, with the meatus located at the glans, coronal, or subcoronal regions. These forms are typically less severe, with minimal curvature and fewer associated anomalies 7 9 20.

Proximal Hypospadias:
Roughly 25–30% are proximal, with the opening along the penile shaft, at the penoscrotal junction, or within the scrotum or perineum. These cases often involve marked chordee, underdeveloped ventral penile tissue, and may be associated with other urogenital anomalies. They are more challenging to repair and have higher rates of postoperative complications 1 7 9 20.

Objective Severity Assessment

Beyond simple anatomical location, newer classification systems consider the extent of tissue underdevelopment and the degree of curvature—providing more objective measures of severity and aiding surgical planning 10.

Special Types

• "Hypospadias Cripple": This term describes cases with multiple failed repairs, resulting in complex, often severely scarred anatomy that requires specialized management 9.
• Unrepaired Adult Cases: Some men present in adulthood with uncorrected hypospadias, showing a range of symptoms—cosmetic concerns in youth, and obstructive symptoms or sexual difficulties later in life 4.

Causes of Hypospadias

The origins of hypospadias are complex, involving an interplay of genetic, hormonal, and environmental factors. While most cases are considered multifactorial, understanding current scientific insights can help guide prevention and management.

Cause Type	Key Factors/Examples	Evidence/Details	Source(s)
Genetic	Family history, single gene mutations, polymorphisms	High heritability, multiple genes	7 8 11 12 14
Hormonal	Androgen deficiency, receptor anomalies	Rare, some syndromic forms	8 11 15 13
Environmental	Endocrine disruptors, maternal factors, low birthweight	Suspected, inconsistent	6 7 11 13
Placental	Placental insufficiency, pre-eclampsia, hypertension	Associated risk factors	11
Unknown	Most cases	Multifactorial	6 7 8 11 13 20

Table 3: Causes and Risk Factors

Genetics and Inheritance

Heritability:
Family history is a strong risk factor, with a heritability coefficient as high as 0.67. Genome-wide studies have identified several genetic regions and single gene mutations (e.g., CXorf6, HOXA4, IRX5, EYA1) associated with hypospadias, though most cases are polygenic or multifactorial 7 8 11 12 14.

Syndromic and Chromosomal Anomalies:
A minority of severe cases are linked to recognized genetic syndromes or chromosomal abnormalities, such as androgen insensitivity syndrome, 5-alpha-reductase deficiency, and other disorders of sex development 8 12.

Hormonal and Developmental Influences

Androgen Pathway Defects:
Androgens (male hormones) are critical for normal penile and urethral development. Rare defects in hormone biosynthesis or androgen receptor function can result in hypospadias, especially in severe or syndromic cases 8 11 15 13.

Placental and Maternal Factors:
Low birthweight, maternal pre-eclampsia, hypertension, and threatened abortion have been repeatedly associated with increased risk—pointing to placental insufficiency and disrupted fetal development as contributing factors 7 11.

Environmental Exposures

Endocrine Disruptors:
Exposure to environmental chemicals with anti-androgenic or estrogenic effects (e.g., phthalates, pesticides) has been implicated in the rising incidence of hypospadias, though definitive evidence in humans is limited and inconsistent 6 7 11 13.

Other Maternal Factors:
Early maternal age at menarche, use of progestins during pregnancy, and shorter gestation have also been linked to increased risk in some studies 7 11.

Multifactorial and Idiopathic Cases

Despite advances, the majority of hypospadias cases remain idiopathic—likely resulting from a combination of genetic susceptibility and environmental factors 6 7 8 11 13 20.

Treatment of Hypospadias

Modern treatment aims to restore both function and appearance, usually through surgical intervention. The approach is tailored to the individual, considering severity, age, and personal or family preferences.

Treatment Option	Description/Indication	Outcomes/Considerations	Source(s)
Surgical Repair	Single- or multi-stage correction of meatus, chordee, urethra	High success, especially in distal cases	6 16 17 18 20
Age at Surgery	Usually performed at 6–18 months, but can be done later	Comparable outcomes at any age	5 20
Hormone Therapy	Preoperative testosterone to increase penile size	Controversial benefit, not routine	19
Minor Procedures	Preputioplasty, circumcision, meatoplasty	For mild cases or symptom relief	4
Counseling	Support for psychosocial issues, self-esteem, sexual health	Important in adults/youth	4 5 20
Long-term Follow-up	Monitor urinary, sexual, psychosocial outcomes	Essential for best outcomes	1 2 4 20

Table 4: Treatment Approaches

Surgical Management

Goals and Timing:
Surgery is the mainstay of treatment, aiming to create a straight penis with a urethral opening at or near the tip, and a normal cosmetic appearance. Repair is usually recommended between 6 and 18 months of age, but can be performed later with similar results 6 20.

Techniques:

• Distal Hypospadias: Single-stage procedures (e.g., tubularized incised plate urethroplasty) are highly successful for mild forms.
• Proximal Hypospadias: More complex cases may require multi-stage repairs, especially when severe chordee or tissue underdevelopment is present. Techniques such as staged preputial graft repair have shown better outcomes for severe cases 16 17 18.

Surgical Advances:
Recent innovations emphasize preservation or modification of the urethral plate, improved techniques for correcting curvature, and refined graft/flap methods. However, no single technique is superior for all proximal cases, and complication rates remain higher than for distal repairs 6 16 17 18.

Non-Surgical and Supportive Therapies

Preoperative Hormone Therapy:
Testosterone may be administered before surgery to increase penile size, potentially facilitating repair. Evidence for its benefit remains inconclusive, and protocols vary widely 19.

Minor Surgical Procedures:
Preputioplasty, circumcision, meatoplasty, and urethral dilation may provide symptom relief for mild or adult cases unwilling or unsuitable for full reconstruction 4.

Counseling and Psychosocial Support:
Given the potential for emotional, behavioral, and sexual concerns, psychological support and counseling are important, particularly for older children, adolescents, and adults 4 5 20.

Long-term Outcomes and Follow-up

Functional and Cosmetic Results:
Most patients achieve good urinary and sexual function, with satisfactory cosmetic outcomes. However, complications such as fistula, stricture, or persistent chordee may occur, especially in severe or proximal cases 1 16 17 18.

Monitoring:
Long-term follow-up into adolescence and adulthood is essential for detecting late complications, supporting sexual health, and addressing psychosocial needs 1 2 4 20.

Conclusion

Hypospadias is a diverse and complex condition with important implications for urinary, sexual, and psychosocial health. Advances in surgical techniques and understanding of its causes have improved outcomes, but challenges remain, particularly for severe cases.

Key Points:

• Hypospadias typically presents with an abnormal urethral opening, penile curvature, urinary symptoms, and cosmetic concerns.
• Types are classified by the location of the meatus, with distal forms being most common and less severe, and proximal forms often requiring complex repair.
• Causes are multifactorial, involving genetic, hormonal, placental, and environmental factors, but most cases remain unexplained.
• Surgical repair is the mainstay of treatment, usually performed in early childhood, with modern techniques tailored to severity.
• Long-term follow-up and psychosocial support are essential for optimal outcomes, especially in severe or complex cases.
• Continued research and standardized outcome measures are needed to further improve care and quality of life for those affected by hypospadias.

Understanding and addressing hypospadias requires a holistic, patient-centered approach—combining surgical expertise with ongoing support for physical and emotional well-being.