Hubbry Logo
EpispadiasEpispadiasMain
Open search
Epispadias
Community hub
Epispadias
logo
8 pages, 0 posts
0 subscribers
Be the first to start a discussion here.
Be the first to start a discussion here.
Epispadias
Epispadias
Epispadias
View on Wikipedia
from Wikipedia
Epispadias
SpecialtyMedical genetics Edit this on Wikidata
FrequencyRare[1]

Epispadias is a birth defect in which the urethra fails to fully develop, resulting in urine leaving the body from an abnormal site.[1] In males, this may be an opening on the upper aspect of the penis,[2] and in females when the urethra develops too far anteriorly. It occurs in around one in 117,000 newborn boys and one in 484,000 newborn girls.[3]

Signs and symptoms

[edit]

Most cases involve a small and bifid penis, which requires surgical closure soon after birth, often including a reconstruction of the urethra. Where it is part of a larger exstrophy, not only the urethra but also the bladder (bladder exstrophy) or the entire perineum (cloacal exstrophy) are open and exposed on birth, requiring closure.[citation needed]

Relationship to other conditions

[edit]

Despite the similarity of name, an epispadias is not a type of hypospadias, and involves a problem with a different set of embryologic processes.[1]

Women can also have this type of congenital malformation. Epispadias of the female may occur when the urethra develops too far anteriorly, exiting in the clitoris or even more forward. For females, this may not cause difficulty in urination but may cause problems with sexual satisfaction. Frequently, the clitoris is bifurcated at the site of urethral exit, and therefore clitoral sensation is less intense during sexual intercourse due to frequent stimulation during urination. However, with proper stimulation, using either manual or positional techniques, clitoral orgasm is definitely possible.[citation needed]

Causes

[edit]

Epispadias is an uncommon and partial form of a spectrum of failures of abdominal and pelvic fusion in the first months of embryogenesis known as the exstrophy - epispadias complex. While epispadias is inherent in all cases of exstrophy it can also, much less frequently, appear in isolation as the least severe form of the complex spectrum. It occurs as a result of defective migration of the genital tubercle primordium to the cloacal membrane, and so malformation of the genital tubercle, at about the 5th week of gestation.[citation needed]

Treatment

[edit]

The main treatment for isolated epispadias is a comprehensive surgical repair of the genito-urinary area usually during the first 7 years of life, including reconstruction of the urethra, closure of the penile shaft and mobilisation of the corpora. The most popular and successful technique is known as the modified Cantwell-Ransley approach. In recent decades however increasing success has been achieved with the complete penile disassembly technique despite its association with greater and more serious risk of damage.[citation needed]

Prognosis

[edit]

Even with successful surgery, patients may have long-term problems with: [citation needed]

  • incontinence, where serious usually treated with some form of continent urinary diversion such as the Mitrofanoff
  • depression and psycho-social complications [citation needed]
  • sexual dysfunction [citation needed]

References

[edit]
[edit]
Revisions and contributorsEdit on WikipediaRead on Wikipedia

Epispadias

View on Grokipedia
from Grokipedia
Epispadias is a rare congenital anomaly in which the opens onto the dorsal aspect of the in boys and is often displaced anteriorly in girls, resulting from incomplete closure of the urethral folds during embryological development. It represents the mildest form of the exstrophy-epispadias complex (EEC), a of genitourinary malformations that also includes and , affecting the lower abdominal wall, , and genitalia. The condition arises from disruptions in the cloacal membrane during early fetal development, with contributing factors including genetic mutations, environmental influences, and abnormal mesenchymal migration, though the exact etiology remains multifactorial and not fully elucidated. Epidemiologically, isolated epispadias occurs in approximately 1 in 100,000 to 160,000 male births and 1 in 480,000 female births, with a male-to-female ratio of approximately 4:1. In males, presentation typically includes a short, broad penis with a dorsal urethral meatus, dorsal chordee, and possible urinary incontinence due to an incompetent bladder neck; in females, it manifests as a bifid clitoris, short vaginal vault, and anteriorly displaced urethral opening, often leading to incontinence. Diagnosis is usually made at birth through physical examination, supplemented by imaging such as ultrasound, voiding cystourethrogram, or MRI to assess associated anomalies. Treatment is primarily surgical, aimed at reconstructing the , achieving urinary continence, and improving cosmetic and functional outcomes, with procedures like the modified Cantwell-Ransley or Mitchell techniques performed ideally after age 1 year to reduce risks. Mild cases may require only minor intervention, but moderate to severe epispadias often necessitates staged repairs, potentially including neck reconstruction for incontinence, with long-term follow-up for complications such as urinary tract infections, , or . Multidisciplinary care involving urologists, pediatric surgeons, and geneticists is essential, particularly given the association with EEC, which may involve pelvic bone deformities or other systemic issues.

Overview and Classification

Definition

Epispadias is a rare congenital birth defect in which the urethra fails to fully close during fetal development, resulting in the urethral opening being positioned on the dorsal (upper) surface of the penis in males or anteriorly displaced in the female genitalia. Normally, the urethra develops as a continuous tube extending from the bladder to the external opening at the tip of the penis in males or in the vulva in females; in epispadias, this tubularization is incomplete, leading to an abnormal location of the urethral meatus. Epispadias forms part of the exstrophy-epispadias complex (EEC), a spectrum of midline congenital malformations, though it may occur in isolation without other associated defects. constitutes a more severe variant within the EEC. Modern understanding links it to aberrant processes in early fetal development.

Types

Epispadias is classified based on the location of the urethral meatus and the extent of the defect, with variations differing by sex and severity. In males, the condition is categorized into three primary types: glanular, penile, and penopubic. Glanular epispadias represents the mildest form, where the urethral opening is located at the tip of the glans penis, and it is the most common subtype among isolated cases. Penile epispadias involves the meatus opening along the mid-shaft of the penis, presenting an intermediate severity. Penopubic epispadias is the most severe male variant, with the urethral opening positioned proximally near the pubic bone, often associated with wider anatomical disruptions. In females, epispadias is similarly graded by urethral defect location and severity into vestibular, sub-symphyseal, and retro-symphyseal types. Vestibular epispadias is the mildest, characterized by a patulous urethral opening in the vestibule near the . Sub-symphyseal epispadias is of moderate severity, with the defect extending beneath the . The retro-symphyseal form is the most severe, featuring a urethral cleft extending to or beyond the , often accompanied by separation of the pubic bones. The severity of epispadias spans a , from mild isolated forms with a functional bladder neck allowing continence to more extensive defects involving , where incontinence is common due to incompetent bladder neck mechanisms. Epispadias manifests in isolated forms, affecting less than 10% of cases without broader malformations, or as complex forms integrated within the exstrophy-epispadias complex (EEC), which encompasses associated pelvic, , and genital anomalies.

Epidemiology

Incidence

Epispadias is a rare congenital anomaly, with an estimated worldwide incidence of approximately 1 in 117,000 live births and 1 in 484,000 live female births for isolated cases. The condition is 2 to 3 times more common in males than in females, reflecting a male-to-female ratio of roughly 2:1 to 3:1. In females, epispadias is often underdiagnosed because of its subtler presentation, which may lead to underreporting and potentially higher true incidence rates than observed; this underdiagnosis may mean the true female incidence is up to three times higher than reported, potentially adjusting the male-to-female ratio downward. Geographic and ethnic variations have been reported for isolated epispadias, with higher incidence in some populations such as Native Americans (up to 8.1 per 100,000 live births) and lower in (1 per 100,000 live births). However, when associated with the bladder exstrophy-epispadias complex (BEEC), overall rates increase, reaching approximately 1 in 30,000 to 50,000 live births for the complex spectrum. Incidence trends for epispadias have remained stable over time, with no significant changes noted in recent epidemiological data. Prenatal detection is rare for isolated cases, and most diagnoses occur postnatally through at birth or shortly thereafter.

Risk Factors

Epispadias is a multifactorial congenital anomaly with no single identified cause, involving a complex interplay of genetic predispositions and environmental influences that disrupt normal urogenital development. Genetic factors contribute significantly to the risk, with evidence pointing to mutations or polymorphisms in specific genes involved in embryonic development. For instance, insertion/deletion polymorphisms in the promoter region of the ΔNp63 isoform of the TP63 gene have been associated with increased susceptibility to the bladder exstrophy-epispadias complex (BEEC), of which epispadias is a milder form. Similarly, disruptions in HOX cluster genes, such as Hoxa-13 or Hoxd-13, are implicated due to their role in patterning the lower urinary and genital tracts. Rare variants in FGF8, including duplications, have also been observed in some BEEC cases, though their direct causal role remains under investigation. Familial patterns underscore this genetic component, with a recurrence risk of approximately 1-2% among siblings of affected individuals in non-consanguineous families. Environmental exposures during early pregnancy act as modifiers that may exacerbate genetic vulnerabilities. Periconceptional maternal has been identified as a , potentially through interference with mesenchymal development. Prenatal exposure to valproic acid, an antiepileptic , is another potential contributor, as it has been linked to urogenital malformations in the broader context of BEEC. These factors highlight the polygenic nature of epispadias, where environmental triggers interact with inherited risks within the exstrophy-epispadias complex spectrum. The condition arises during a critical developmental window in the first trimester, specifically between 4 and 6 weeks of , when the foundational structures of the lower and urogenital tract form.

Pathophysiology and Causes

Epispadias arises from embryological disturbances during the fourth to sixth weeks of , when the cloacal membrane fails to be adequately reinforced by ingrowth of mesenchymal tissue, leading to its premature rupture and subsequent developmental anomalies in the exstrophy-epispadias complex (EEC). This premature breakdown occurs before the development of sufficient mesenchymal support, resulting in the dorsal displacement of the urethral structure and an open urethral plate due to the failure of the urethral folds to fuse properly along the dorsal aspect. In milder forms like isolated epispadias, the rupture timing is relatively later compared to more severe EEC variants, limiting the defect primarily to the urethral and regions without full involvement. The incomplete fusion of the urethral folds leaves an exposed urethral plate, disrupting the normal tubularization of the and often resulting in an ectopic dorsal meatus. Associated structural anomalies include pubic diastasis, characterized by separation of the pubic bones due to outward rotation of the innominate bones, which is more pronounced in proximal forms but present to varying degrees across the spectrum. Additionally, (VUR) affects 35-85% of cases, stemming from abnormalities at the ureterovesical junction caused by the altered bladder neck positioning and inadequate anti-reflux mechanisms. The impact on continence is primarily due to incompetence of the neck and external complex, exacerbated by histological abnormalities such as attenuation and reduced in the posterior urethral roof and tissues. In complex or proximal epispadias, variable dysinnervation of the mechanism further contributes to urinary leakage, as the anatomical distortion and muscle deficiencies impair coaptive and constrictive functions, leading to incontinence in a majority of untreated cases.

Etiology

The etiology of epispadias remains incompletely understood, but it is widely regarded as multifactorial, involving a complex interplay of genetic predisposition and environmental triggers that disrupt normal embryonic development during the gastrulation phase. Genetic factors contribute through polygenic inheritance and gene-environment interactions, with identified susceptibility loci such as ISL1 and CELSR3 implicated in familial clustering and altered signaling pathways essential for urogenital formation. Environmental influences, including periconceptional exposures like maternal smoking or assisted reproductive technologies, may exacerbate these genetic vulnerabilities, though no single causative agent has been definitively established. A central mechanism in epispadias involves abnormalities in the cloacal membrane, a transient bilaminar structure that, if overly persistent or fragile, fails to support proper ventral body wall closure and mesodermal ingrowth during early embryogenesis. This leads to incomplete fusion of the urethral folds and pubic rami separation, as the membrane's role in signaling and structural integrity is compromised, preventing the normal progression from to distinct urogenital and anorectal structures. Disruptions here are thought to occur around the fourth to sixth weeks of , aligning with the timing of urogenital tubercle development. Animal models, particularly in mice, have provided insights into these processes by demonstrating that disruptions in (FGF) signaling pathways recapitulate human epispadias phenotypes. For instance, mutations affecting FGF8 expression impair cloacal membrane stabilization and outgrowth, resulting in exstrophy-like defects including dorsal urethral opening and pubic bone diastasis. These models highlight FGF's integration with and Wnt pathways in regulating mesenchymal proliferation around the , underscoring a conserved developmental cascade vulnerable to perturbation. No evidence supports infectious agents or traumatic events as causes of epispadias, with the condition consistently classified as a non-acquired congenital anomaly arising solely from intrinsic developmental errors.

Signs and Symptoms

In Males

In males, epispadias presents with distinctive genital abnormalities, including a shortened and broad penis that often exhibits dorsal , characterized by an upward curvature due to splaying and shortening of the corpora cavernosa. The urethral meatus opens on the dorsal surface, typically along the penile shaft or glans, rather than at the tip, accompanied by a deep groove extending to the distal end and a ventrally hooded prepuce that fails to fully encircle the glans. Urinary manifestations vary by the location of the meatal opening but commonly include a spraying or forward-directed urine stream due to the dorsal positioning of the . In more severe forms, such as penopubic epispadias where the meatus is proximal near the , is frequent because of an incompetent bladder neck sphincter, affecting up to two-thirds of penile cases and nearly all penopubic cases; milder glanular epispadias, with the opening at the , often allows continence and normal . Additionally, 20% to 50% of affected males experience , increasing the risk of urinary tract infections. Untreated epispadias in males can lead to sexual and reproductive challenges in adulthood, including potential from the persistent dorsal curvature and shortened penile length, which may hinder intercourse, as well as issues such as or reduced sperm quality, particularly in severe cases. However, the and ejaculatory ducts are typically normal, preserving basic potential in many instances. Detection usually occurs at birth during routine , where the abnormal meatal position and penile deformity are evident; however, milder glanular variants may be overlooked until attempted reveals the dorsal opening or during early childhood when urinary dribbling becomes apparent during potty training.

In Females

In females, epispadias is significantly rarer than in males, with an incidence ranging from 1 in 160,000 to 1 in 480,000 live births. The condition manifests with distinct anatomical abnormalities in the genital region, including a bifid or completely split adjacent to an open urethral plate, separated with absence of the , and an anteriorly displaced urethral that is often patulous or gaping. Additionally, the vaginal opening is typically narrow, anteriorly positioned, and associated with a shortened , while the mons pubis may appear flattened or ill-formed with absent midline . Urinary symptoms in female epispadias primarily involve incontinence, ranging from continuous dribbling due to a short and poor mechanism to from a gaping . These issues often remain undiagnosed until age, as the external genitalia may appear relatively normal at birth, leading to delayed recognition of the partial or total incontinence. In severe cases, the urethral cleft may extend to involve the bladder neck, resulting in mucosal . Pelvic changes associated with female epispadias include a minor gap or widening of the due to external rotation of the innominate bones, which is more pronounced in severe forms. This structural anomaly contributes to defects, such as absent cardinal ligaments and weaknesses, predisposing affected individuals to vaginal or , particularly in those with involvement in the broader exstrophy-epispadias complex. Isolated female epispadias is uncommon and typically milder, whereas the condition more frequently occurs as part of the exstrophy-epispadias complex (EEC), encompassing variants from vestibular (mild) to retro-symphyseal (severe) forms with associated in 35% to 85% of cases and reduced bladder capacity.

Associated Conditions

Epispadias is primarily associated with the exstrophy-epispadias complex (EEC), a spectrum of congenital malformations affecting the genitourinary, musculoskeletal, and structures, ranging from mild to severe forms. In the classic variant, which represents the most common manifestation of EEC, the bladder is everted through an defect, and epispadias is invariably present due to the dorsal urethral opening, accounting for the majority of EEC cases with an estimated incidence of 1 in 30,000 to 50,000 live births. Other variants within the EEC include , the most severe form, characterized by exposure of both urinary and intestinal tracts, often accompanied by and spinal defects, with a of approximately 1 in 200,000 to 400,000 live births. Isolated epispadias, occurring without other EEC features, comprises less than 10% of all EEC cases and has a lower incidence of about 1 in 100,000 to 200,000 live births. Common comorbidities in epispadias, particularly within the EEC, include inguinal hernias, which are common in patients with due to weakened and pubic diastasis. Spinal dysraphism occurs in approximately 7% of cases and nearly 100% of cases, potentially leading to neurologic issues if untreated. Renal anomalies, such as or structural defects, affect 20-33% of EEC patients overall, with higher rates in more severe variants. Epispadias must be differentiated from other urethral anomalies, such as hypospadias, which features a ventral urethral meatus, and urogenital sinus abnormalities in females, which involve incomplete separation of the urethra and vagina. In complex EEC forms, these associations can amplify urinary and musculoskeletal symptoms.

Diagnosis

Clinical Evaluation

The clinical evaluation of epispadias begins with a detailed history taking, which may include prenatal ultrasound findings suggestive of genitourinary anomalies, though prenatal diagnosis is rare for isolated cases. Family history of urologic anomalies is also elicited, as genetic factors contribute to recurrence risks within the complex. Postnatally, observation of the urine stream is crucial, often revealing a spraying or upward trajectory due to the dorsal urethral opening, which aids in early suspicion. Physical examination focuses on inspection of the genitalia to identify the ectopic meatal location, typically on the dorsal surface of the glans or penile shaft, along with associated features such as dorsal chordee and a hooded prepuce in males. In females, inspection reveals a bifid clitoris and patulous urethral opening. Additional findings include pubic diastasis, assessed visually or by gentle palpation, and palpation of the lower abdomen to confirm an intra-abdominal bladder position, distinguishing isolated epispadias from more severe exstrophy variants. Age-specific considerations influence the evaluation process; in newborns, routine screening during the initial physical assessment typically identifies moderate to severe cases at birth. However, mild forms, particularly in females, may evade detection until later childhood when urinary incontinence manifests, prompting evaluation around school age or toilet training. Evaluation often involves a multidisciplinary team, with a pediatric urologist leading the assessment and a geneticist consulted if features suggest the broader exstrophy-epispadias complex, to evaluate for associated anomalies.

Imaging and Tests

Diagnosis of epispadias often requires imaging and specialized tests to evaluate the extent of the defect, assess associated urinary tract anomalies, and confirm clinical findings from physical examination. These modalities help delineate urethral anatomy, bladder function, and potential comorbidities such as vesicoureteral reflux (VUR) or upper tract involvement, guiding preoperative planning. Ultrasound serves as the first-line, non-invasive imaging tool for evaluating the renal and structures in epispadias patients. It detects , renal anomalies, or abnormalities, particularly in cases of incontinent epispadias where upper tract assessment is crucial preoperatively. Voiding cystourethrogram (VCUG) is essential for assessing urethral and identifying VUR, which occurs in 20% to 50% of epispadias cases. This dynamic study visualizes the bladder neck during filling and voiding, revealing reflux grades and urethral patency to inform surgical strategies. In complex cases within the exstrophy-epispadias complex (EEC), magnetic resonance imaging (MRI) provides detailed evaluation of spinal and pelvic structures. Pelvic MRI offers precise soft tissue anatomy, clarifying ambiguous ultrasound findings, while spinal MRI assesses for associated dysraphism if neurological involvement is suspected. Cystoscopy allows direct visualization of the internal urethral and bladder neck structures, identifying abnormalities such as sphincter defects or mucosal issues that contribute to incontinence. It complements other imaging by providing endoscopic confirmation of the defect's intraluminal extent. Urodynamic studies measure bladder function and continence potential prior to surgery, typically revealing a low-capacity but highly compliant bladder with minimal detrusor dysfunction in isolated epispadias. These tests quantify pressure-volume relationships, detrusor activity, and voiding efficiency to predict postoperative outcomes.

Treatment

Surgical Approaches

Surgical approaches for epispadias focus on reconstructive techniques to address the dorsal urethral opening and associated anatomical defects, primarily through urethral reconstruction and genital approximation. These procedures are typically performed by pediatric urologists specializing in congenital anomalies. The primary goals of epispadias repair include achieving a functional urethra positioned ventrally, ensuring urinary continence, and attaining cosmetically acceptable genitalia with normal sexual potential. Pubic approximation is often incorporated to correct symphyseal diastasis and improve pelvic stability, particularly in cases with significant separation. Recent studies as of 2025 emphasize the importance of preoperative pelvic floor assessment for optimizing continence outcomes, with long-term success rates for staged repairs achieving 80-90% dryness in specialized centers. In males, the Cantwell-Ransley technique is commonly used for penile epispadias, involving mobilization and tubularization of the urethral plate as a flap, medial rotation of the corporal bodies to correct dorsal chordee, and glans closure over the neourethra. This approach provides a single-layer urethral reconstruction with dorsal transfer of the plate for ventral positioning. For more severe penile or penopubic epispadias, the Mitchell technique employs complete penile disassembly, separating the phallus into the urethral plate and bilateral hemicorporeal-glandular bodies based on their independent neurovascular supplies, followed by tubularization of the urethra, ventral repositioning, and reassembly to eliminate curvature and achieve a terminal meatus. This method allows precise correction of chordee and enhances exposure for grafts if needed. Female epispadias repairs are generally simpler due to the absence of significant penile involvement and emphasize urethral lengthening combined with plasty to restore urethrovesical angulation and outflow resistance. Techniques often include perineal urethrocervicoplasty, tubularization of the short , reconstruction via plication or suspension, and associated procedures like clitoroplasty and labioplasty for cosmetic improvement. Repairs can be staged or single-stage depending on complexity; single-stage approaches are preferred for isolated glanular or mild penile epispadias to achieve urethral and genital reconstruction in one operation, while staged repairs are utilized for complex cases within the exstrophy-epispadias continuum, separating urethral reconstruction from bladder neck procedures.

Timing and Considerations

The timing of surgical intervention for epispadias is tailored to the severity and whether it occurs in isolation or as part of the exstrophy-epispadias complex (EEC), with the goal of optimizing functional outcomes such as continence and genital development while minimizing psychological impact during key developmental stages. For isolated epispadias, repair is generally recommended after the child is at least 6 months old, typically between 6 months and 1 year of age, aligning with the onset of toilet training to facilitate early achievement of dryness and reduce emotional distress associated with urinary issues. In contrast, when epispadias is associated with bladder exstrophy or other EEC variants, initial closure is performed neonatally, often within the first 72 hours of life to promote bladder cycling and prevent mucosal desiccation, followed by epispadias-specific repair at 6 to 12 months. Patient-specific factors, including the extent of urethral defects, bladder capacity, and presence of incontinence, further influence scheduling, with delays possible if preoperative assessments reveal suboptimal conditions. A multidisciplinary team approach is essential, particularly for EEC-associated cases, involving pediatric urologists for genitourinary reconstruction, orthopedic surgeons to address pelvic bone deformities, and psychologists to support family coping and child development. This collaborative framework ensures comprehensive evaluation and planning, with input from nephrologists if renal anomalies are present, to coordinate care across specialties and improve long-term adherence to follow-up. Preoperative preparation emphasizes stabilizing the patient and mitigating risks, including pelvic osteotomy in severe EEC forms, particularly with pubic diastasis greater than 4 cm, to facilitate adequate bone approximation and improve closure success rates, which can exceed 90% in modern series with appropriate immobilization. Antibiotic prophylaxis is routinely administered perioperatively in line with guidelines for pediatric urologic procedures to prevent surgical site infections, typically using a single dose of a first- or second-generation cephalosporin. Comprehensive imaging and urodynamic studies are conducted to assess anatomy and function prior to proceeding. Non-surgical management is reserved for rare, mild cases of glanular epispadias that are asymptomatic, with close monitoring for urinary continence and cosmetic concerns rather than immediate intervention, as these often preserve natural bladder neck function without complications.

Prognosis and Complications

Prognosis

The prognosis for epispadias following surgical repair is generally favorable, with high rates of achieving urinary continence and preserved sexual and reproductive function in most patients, though outcomes vary by sex, severity, and whether the condition is isolated or part of the exstrophy-epispadias complex (EEC). In males, daytime continence rates post-repair range from 50% to 90%, influenced by the extent of the defect and the adequacy of bladder neck reconstruction, while nocturnal continence is lower, often below 50% due to incomplete maturation of continence mechanisms. Females typically achieve daytime continence in 60% to 80% of cases after repair, with similar challenges in achieving full nocturnal control. Isolated epispadias cases generally yield better results than those associated with EEC, as the milder anatomy allows for simpler reconstructions and fewer secondary procedures. Functional outcomes emphasize the preservation of sexual health and fertility, which are critical for long-term quality of life. In repaired males, 80% to 90% report good erectile function and minimal sexual dysfunction, with straight erections achieved in the majority and fertility preserved in a substantial proportion, enabling impregnation in about one-third of sexually active adults. Females experience minimal impact on sexual function post-repair, with continence enhancements supporting overall well-being. Early surgical intervention, ideally before age 2 for penile reconstruction and later for bladder neck procedures, significantly improves these outcomes by optimizing tissue growth and function. Lifelong urologic monitoring is essential to maintain these gains, focusing on surveillance for and urolithiasis, which can arise from reconstructive changes and affect renal function over time. Regular assessments, including and urodynamics, help detect issues early, ensuring sustained continence and preventing deterioration in ; complications, if unmanaged, may reduce these success rates. Overall, with multidisciplinary care, most patients achieve satisfactory long-term trajectories, though variability underscores the need for individualized follow-up.

Complications

Surgical complications following epispadias repair primarily include urethrocutaneous fistula, with reported rates ranging from 13% to 18% depending on the technique and patient factors. Urethral stricture represents another key risk, often arising from scar tissue formation during reconstruction, while wound dehiscence can occur due to tension on the closure site, with incidence around 7.5% in some series. Long-term issues may involve persistent urinary incontinence in 10-20% of cases post-repair, particularly when bladder neck involvement is significant. Penile ischemia, a rare but serious vascular compromise, can lead to tissue loss if blood supply is disrupted during disassembly procedures. Recurrent chordee, or penile curvature, may develop over time due to inadequate initial corporal alignment. In the exstrophy-epispadias complex (EEC), complications extend to renal damage from vesicoureteral reflux, which affects nearly all patients and can progress to hydronephrosis or impaired function if unmanaged. Orthopedic challenges, such as pelvic instability and gait abnormalities, stem from pubic symphysis diastasis, potentially requiring osteotomy for correction. Advanced techniques, such as the Mitchell procedure, help mitigate risks like fistula formation, reducing rates to below 10% through preserved penile blood flow and layered closure. Untreated complications can exacerbate overall outcomes by necessitating reoperations.

References

  1. https://www.ncbi.nlm.nih.gov/books/NBK563180/
  2. https://pmc.ncbi.nlm.nih.gov/articles/PMC2777855/
  3. https://medlineplus.gov/ency/article/001285.htm
  4. https://my.clevelandclinic.org/health/diseases/21551-epispadias
  5. https://www.osmosis.org/answers/epispadias
  6. https://www.chop.edu/conditions-diseases/epispadias
  7. https://www.urologyhealth.org/urology-a-z/e/epispadias
  8. https://www.yalemedicine.org/clinical-keywords/epispadias
  9. https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-23
  10. https://www.orpha.net/en/disease/detail/93928
  11. https://www.uptodate.com/contents/clinical-manifestations-and-initial-management-of-infants-with-bladder-exstrophy/print
  12. https://www.health.state.mn.us/diseases/cy/cloacalexst.html
  13. https://www.unboundmedicine.com/5minute/view/Select-5-Minute-Pediatric-Consult/14200/all/Exstrophy%25E2%2580%2593Epispadias_Complex
  14. https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/
  15. https://pubmed.ncbi.nlm.nih.gov/15329123/
  16. https://www.orpha.net/en/disease/detail/322
  17. https://www.auajournals.org/doi/10.1016/j.juro.2011.07.022
  18. https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003070
  19. https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/epispadias
  20. https://pdfs.semanticscholar.org/8520/11f91467e21f46881ec8cab30a591703a2f3.pdf
  21. https://www.mdpi.com/2073-4425/12/8/1149
  22. https://medicaljournals.eu/index.php/IJIMM/article/download/2236/2311/4055
  23. https://pubmed.ncbi.nlm.nih.gov/18951576/
  24. https://pmc.ncbi.nlm.nih.gov/articles/PMC4780475/
  25. https://www.hopkinsmedicine.org/health/conditions-and-diseases/epispadias
  26. https://pubmed.ncbi.nlm.nih.gov/33085327/
  27. https://pmc.ncbi.nlm.nih.gov/articles/PMC2588430/
  28. https://www.mayoclinic.org/diseases-conditions/bladder-exstrophy/symptoms-causes/syc-20391299
  29. https://onlinelibrary.wiley.com/doi/10.1155/2014/587064
  30. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588430/
  31. https://www.uptodate.com/contents/clinical-manifestations-and-initial-management-of-infants-with-bladder-exstrophy
  32. https://pmc.ncbi.nlm.nih.gov/articles/PMC11120324/
  33. https://pubmed.ncbi.nlm.nih.gov/10458459/
  34. https://www.jccpractice.com/article/retrospective-and-prospective-study-of-isolated-epispadias--930/
  35. https://pmc.ncbi.nlm.nih.gov/articles/PMC5046007/
  36. https://publications.aap.org/pediatricsinreview/article/46/8/461/202957/Hypospadias-and-Epispadias
  37. https://www.nature.com/articles/s41598-025-18136-1
  38. https://pubmed.ncbi.nlm.nih.gov/1512838/
  39. https://pmc.ncbi.nlm.nih.gov/articles/PMC5469239/
  40. https://pubmed.ncbi.nlm.nih.gov/7490875/
  41. https://pubmed.ncbi.nlm.nih.gov/8483224/
  42. https://balkanmedicaljournal.org/text.php?lang=en&id=2659
  43. https://www.mdpi.com/2075-1729/14/4/446
  44. https://pmc.ncbi.nlm.nih.gov/articles/PMC4208497/
  45. https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2019.00110/full
  46. https://afju.springeropen.com/articles/10.1186/s12301-023-00356-4
  47. https://pmc.ncbi.nlm.nih.gov/articles/PMC8944721/
  48. https://www.cureus.com/articles/191056-a-rare-case-of-isolated-male-epispadias
  49. https://pmc.ncbi.nlm.nih.gov/articles/PMC11050961/
  50. https://www.auajournals.org/doi/pdf/10.1016/j.juro.2015.04.082
  51. https://pubmed.ncbi.nlm.nih.gov/9258206/
  52. https://pubmed.ncbi.nlm.nih.gov/10458460/
  53. https://pubmed.ncbi.nlm.nih.gov/20541473/
  54. https://onlinelibrary.wiley.com/doi/10.1111/iju.12469
  55. https://www.auajournals.org/doi/10.1016/j.juro.2013.01.027
Add your contribution
Related Hubs
User Avatar
No comments yet.