Epispadias: Symptoms, Types, Causes and Treatment

Epispadias is a rare congenital condition affecting the urethra and external genitalia, most recognized as part of the exstrophy-epispadias complex. However, isolated epispadias can occur and presents unique challenges in diagnosis and management. This article explores the symptoms, types, causes, and evidence-based treatments of epispadias, drawing from the latest clinical research and case studies.

Symptoms of Epispadias

Epispadias symptoms can vary based on sex and severity, but early recognition is key to successful management. While the external anatomical differences may be striking, the impact on urinary continence and quality of life is often most significant for affected individuals and their families.

Symptom	Description	Demographics	Source(s)
Incontinence	Inability to control urination; may be partial or total	Males & Females	1, 2, 3, 4, 5
Abnormal genitalia	Bifid clitoris, bifid or patulous labia, dorsal urethral opening	Males & Females	2, 3, 4, 12
Dorsal chordee	Upward curvature of the penis	Males	5, 12
Psychological distress	Anxiety, depression due to symptoms	Adolescents & Adults	1

Table 1: Key Symptoms

Urinary Incontinence

One of the most consistent and distressing symptoms of epispadias is urinary incontinence. In both males and females, incontinence can be primary—present from birth—or partial, depending on the severity and anatomical configuration of the defect. In females, primary incontinence is especially common and is often the presenting symptom 1, 2, 3, 4. In males, the degree of incontinence correlates with the severity and location of the urethral defect 5, 8.

Abnormal External Genitalia

Physical examination often reveals distinctive anatomical features. In females, a bifid clitoris and split or patulous labia minora are hallmark signs, while the vagina and hymen are typically normal 2, 3, 4. In males, there is usually a dorsally displaced urethral meatus and, in more severe cases, a visible separation of the penile shaft 5, 12.

Dorsal Chordee

In male patients, dorsal chordee—an upward curvature of the penis—is commonly observed. This can contribute to both functional and cosmetic concerns and impacts surgical planning 5, 12.

Psychological and Social Impact

Persistent urinary incontinence and visible anatomical differences can lead to psychological distress, including anxiety and depression, especially if diagnosis and treatment are delayed 1.

Types of Epispadias

The clinical spectrum of epispadias is broad, with distinct types classified by the anatomical location and extent of the urethral defect. Understanding these types is crucial for appropriate intervention.

Type	Location/Feature	Sex Affected	Source(s)
Glanular	Urethral opening on glans	Males	5, 6
Penile	Urethral opening along shaft	Males	5, 6
Penopubic	Urethral opening near pubic symphysis	Males	5, 6, 12
Isolated (female)	Bifid clitoris, abnormal labia, urethral opening	Females	2, 3, 4
Concealed	Less obvious external defect, delayed diagnosis	Males	6

Table 2: Types of Epispadias

Classification by Anatomical Location

In Males

• Glanular Epispadias: The mildest form, with the urethral opening on the dorsal aspect of the glans penis. Typically, urinary continence is preserved or only mildly affected 5, 6.
• Penile Epispadias: The urethral opening is found along the penile shaft. These cases may involve more significant anatomical disruption and higher rates of incontinence 5.
• Penopubic Epispadias: The most severe form in males, with the meatus located near the pubic symphysis. This type is frequently associated with significant bladder neck abnormalities and urinary incontinence 5, 12.

In Females

• Isolated Female Epispadias: Characterized by a bifid clitoris, split or patulous labia minora, and a dorsally located urethral opening. The vagina and hymen are usually unaffected 2, 3, 4.

Concealed Epispadias

A less obvious form, "concealed epispadias," can occur, especially in males. Here, the abnormality is less externally visible, often leading to delayed diagnosis and less severe incontinence. Despite the subtler presentation, the surgical outcomes are similar to classic cases 6.

Severity and Associated Findings

The severity of symptoms, especially incontinence, often correlates with the proximity of the defect to the bladder neck and presence of associated anomalies such as bladder neck deformity or pubic diastasis 5.

Causes of Epispadias

While the precise causes of epispadias remain incompletely understood, research suggests a complex interplay of genetic and embryological factors.

Cause	Mechanism/Description	Evidence	Source(s)
Genetic factors	Mutations affecting genitalia and body wall development	Animal/human studies	7, 9
Developmental errors	Failure of urethral plate tubularization, abnormal mesenchymal-epithelial interaction	Embryology, animal models	9
Bladder exstrophy-epispadias complex (BEEC)	Spectrum of related malformations; shared embryonic origin	Clinical observation	9, 7

Table 3: Causes of Epispadias

Genetic Influences

Familial clustering and genetic studies indicate that certain gene mutations and signaling pathways—such as bone morphogenetic proteins (Bmp) and transcription factors (Msx1/2, Isl1)—play a significant role in urogenital development and the pathogenesis of epispadias 7, 9. Mouse models have helped identify these critical genetic interactions.

Embryological Development

Epispadias results from failure of the urethral plate to properly tubularize along the dorsal aspect of the genitalia during embryogenesis. The defect may extend to involve the bladder neck, pubic symphysis, and even the bladder, as seen in the exstrophy-epispadias complex (BEEC) 9. Abnormalities in epithelial-mesenchymal interaction (EMI) are also implicated, highlighting the complexity of normal genital and urinary tract formation 9.

Bladder Exstrophy-Epispadias Complex

Epispadias often exists along a spectrum with bladder exstrophy. Both share embryological origins, and the presence of one increases the likelihood of associated malformations in the urinary tract or body wall 9.

Treatment of Epispadias

Modern treatments for epispadias are highly individualized, aiming to restore urinary continence, normal genital appearance, and function. Surgical correction is the mainstay, but approaches differ based on the type and severity of the condition.

Treatment	Purpose/Target	Patient Group	Source(s)
Urethral/genital reconstruction	Restore anatomy/function, improve appearance	All	2, 3, 4, 12, 13, 14
Bladder neck reconstruction	Achieve urinary continence	Severe/penopubic cases	1, 8, 13
Modified Cantwell-Ransley repair	Urethral mobilization and reconstruction	Males	12, 13, 14
Mitchell/Complete disassembly technique	Extensive anatomical correction in severe cases	Males	10, 12
Burch colposuspension, bladder neck plication	Less invasive continence restoration	Females	1

Table 4: Treatment Approaches

Principles of Surgical Treatment

Restoration of urinary continence and normal genital appearance are the central goals. Surgery is typically performed by specialized pediatric urologists, and the choice of technique depends on patient sex, age, and defect severity 12.

Surgical Techniques in Males

• Modified Cantwell-Ransley Repair: This widely used technique involves mobilization and reconstruction of the urethra and is suitable for many forms of male epispadias. It can be combined with chordee correction when necessary 12, 13, 14.
• Mitchell (Complete Disassembly) Technique: A more extensive approach, useful for severe cases, this technique separates the penis into its components for more precise anatomical reconstruction 10, 12.
• Bladder Neck Reconstruction: Especially in penopubic and severe cases, reconstructing the bladder neck is essential for restoring continence. Methods vary but may include simplified reconstructions and reapproximation of tissues 8, 13.

Surgical Techniques in Females

• Single-Stage Reconstruction: Involves repair of the urethra, clitoris, and labia minora, often with excellent cosmetic and functional results 2, 3, 4.
• Burch Colposuspension and Bladder Neck Plication: In selected cases, less invasive procedures may achieve socially acceptable continence, especially when sphincter function is preserved 1.

Outcomes and Complications

Outcomes have improved markedly with modern techniques. Most children and adults can achieve urinary continence and satisfactory genital appearance, though complications such as urethrocutaneous fistula or need for revision surgery can occur 13, 14. Early diagnosis and individualized care remain crucial for optimal results.

Conclusion

Epispadias, though rare, has profound effects on physical health and quality of life. Timely recognition and multi-disciplinary management are key. Here’s a brief summary of main points:

• Symptoms: Urinary incontinence and abnormal external genitalia are the most common, with psychological impacts if left untreated.
• Types: Classified by anatomical location and severity; includes glanular, penile, penopubic (males), and isolated female forms.
• Causes: Stem from genetic and embryological disruptions affecting urogenital development.
• Treatment: Surgical reconstruction tailored to individual needs offers excellent prospects for continence and normal appearance.

With ongoing research and advances in surgical techniques, outcomes continue to improve for those affected by epispadias. Early referral to specialized centers is recommended to provide the best possible care and support for patients and families.