Paper

Epispadias

Presented By:
Muhammad Fikri Hanif (20360044)
Muhammad Furqan Satriadi (20360045)
Rio Chairul Anam (21360016)

Supervisor:
dr. Hasroni Fathurrahman, Sp.U., M.Ked Klin

KEPANITERAAN KLINIS ILMU BEDAH UROLOGI

RSU HAJI MEDAN
FAKULTAS KEDOKTERAN
UNIVERSITAS MALAHAYATI
TAHUN 2021
 CONTENT

Page
TITEL i
CONTENT ii

CHAPTER I INTRODUCTION 1
CHAPTER II LITERATURE REVIEW
2.1. Definition 2
2.2. Etiology 2
2.3. Epidemiology 2
2.4. Patophysiology 3
2.5. History and Physical 3
2.6. Evaluation 4
2.7. Treatment/Management 5
2.8. Differential Diagnosis 6
2.9. Prognosis 7
2.10. Complication 7
2.11. Post Operative and Rehabilitation Care 8

CHAPTER III CONCLUSION 10

DAFTAR PUSTAKA

2
 CHAPTER I
INTRODUCTION

Epispadias is a rare urogenital malformation characterized by the failure of

the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where
the meatus is on the ventral aspect, children with epispadias have a wide-open
urethral plate on the dorsum. It is commonly seen as a component in the spectrum
of bladder exstrophy-epispadias-complex (BEEC). Isolated epispadias constitutes
less than 10 percent of the total cases of epispadias. 1 Isolated male epispadias is
rare, with an incidence of less than 1 per 100,000 live births.2
Males have characteristic anatomic abnormalities, including a short-stubby
phallus with a dorsally located meatus, upward-pointing phallus, and ventral
hooding of the prepuce. Female epispadias is even rarer with an incidence ranging
from at least 1 in 160,000 to 1 in 480,000 live births. 3 Girls have a bifid clitoris,
patulous urethral opening, anteriorly placed vaginal opening, and ill-formed or
absent mons. Pubic diastasis is seen in both males and females with epispadias.
Varying degrees of urinary continence are reported in these patients, and
depending on the degree of continence, they can be categorized into continent or
incontinent epispadias. The diagnosis of epispadias is clinical and does not require
any additional investigations. The most important factor determining
postoperative continence in these patients is the availability of a skilled pediatric
surgeon/urologist. Long-term follow-up is necessary to address the psychosexual
issues during the transition from childhood to adolescence and adulthood.
 CHAPTER II
LITERATURE REVIEW

2.1 Definition
Epispadias is a rare urogenital malformation characterized by the failure of
the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where
the meatus is on the ventral aspect, children with epispadias have a wide-open
urethral plate on the dorsum. It is commonly seen as a component in the spectrum
of bladder exstrophy-epispadias-complex (BEEC). Isolated epispadias constitutes
less than 10 percent of the total cases of epispadias. 1 Isolated male epispadias is
rare, with an incidence of less than 1 per 100,000 live births.2

2.2 Etiolgy
Epispadias lies on the milder end of the spectrum of anomalies under the
bladder exstrophy-epispadias-complex (BEEC). Although a number of theories
have been put forward for its occurrence, whether as a part of BEEC or isolated,
the exact cause of epispadias is still unclear. It is believed that abnormalities of the
cloacal membrane might be responsible for its occurrence. An abnormally large
cloacal membrane not only prevents the normal migration of mesenchymal tissue
but is also prone to early rupture, leading to this spectrum of anomalies. Isolated
epispadias occurs when this rupture causes a non-union of the distal portion of the
urinary tract.4 Various animal models have also suggested that interactions
between growth factors and transcription factors might play a role in its
occurrence.5

2.3 Epidemiology
Epispadias is a rare congenital birth defect with an estimated prevalence of 1
in 10,000 to 50,000. The disease is more common in males than in females. The
incidence of isolated male epispadias is 1 in 100,000. In females, it is even rarer,
with an incidence ranging from 1 in 160,000 to 1 in 480,000.2,3
The risk factors for epispadias are similar to that of other forms of BEEC.
No additional risk factors for epispadias are known. While compliance with
 3

periconceptional folate reduces the risk of severe forms of the spectrum of BEEC,
the risk of occurrence of milder forms like isolated epispadias is not decreased.2,6

2.4 Patophysiology
Isolated male epispadias is characterized by a short phallus, an abnormal
dorsally located urethral meatus, dorsal chordee, and a ventrally hooded prepuce.
Depending on the position of the meatus, male epispadias is categorized into
glandular, penile, and penopubic forms. Urinary incontinence is almost always
seen in the penopubic forms due to the incompetent bladder neck. Until recently,
it was believed that the degree of incontinence depends only on the position of the
meatus, with distal (glandular) epispadias not having incontinence issues.
Histological abnormalities in the roof of the urethra have shown that there are
additional factors contributing to the development of continence in these patients.7
Similar to male epispadias, female epispadias can be categorized into
vestibular, sub-symphyseal, and retro-symphyseal types. Only a patulous urethral
meatus is seen in the vestibular forms. However, the retro-symphyseal form can
present with complete incontinence and extremely small bladder capacity.8

2.5 History and Physical

When presenting as a component of the severe forms of the BEEC, the
diagnosis is usually apparent at birth and does not require additional
investigations. Similarly, the majority of newborns with isolated male epispadias
can be diagnosed by the pediatrician or neonatologist involved in immediate post-
natal care. However, glandular epispadias and female epispadias are difficult to
diagnose and require careful identification of the external genitalia. In the former,
the diagnosis can be missed if the child is continent, and is usually identified at
the time of circumcision when the foreskin is retracted. Female epispadias also
poses a diagnostic challenge to the pediatric surgeon because of the rarity of the
disease and are often noticed only on precise perineal examination when the toilet
training is delayed.9
Urinary incontinence in isolated epispadias needs a special mention. In
males, it is variable and was earlier believed to depend only on the position of the
 4

meatus, with the majority of the penopubic defects being incontinent due to
invariable involvement of the bladder neck in these cases. However, recent reports
mentioning total incontinence in distal epispadias have initiated discussions
regarding other factors also contributing to the continence mechanism in these
cases. In females, the continence mechanism is invariably involved, and
incontinence is a usual symptom.9,10 On examination of the external genitalia, the
following characteristic features are found in isolated epispadias:
1. Males: Short and stubby phallus with dorsal meatus, dorsal chordee, and
ventrally hooded prepuce are classical features on examination. Splaying
and shortening of the corpora is another feature universally found in male
epispadias. Splaying is seen due to pubic diastasis. The total corporal length
is short due to the foreshortened anterior corporal segment (the posterior
segment is normal). Other factors contributing to the smaller appearance of
the phallus include the short urethral plate and dorsal chordee. All of these
have to be addressed during epispadias repair for penile lengthening. The
vas and ejaculatory ducts are normal in these children but have a risk of
getting injured during the reconstructive procedure.10
2. Females: Bifid clitoris, anteriorly placed vaginal orifice, absent mons, and
patulous urethral orifice with visible bladder neck are classical features on
perineal examination of girls with an epispadias. 10 Apart from these, when
associated as a part of BEEC, other clinical features are also present.
However, a detailed discussion about all the features of BEEC is beyond the
scope of this article.

2.6 Evaluation
Similar to exstrophy bladder, the diagnosis of epispadias is clinical and does
not require any other additional investigations for diagnosis. A plain
radiograph should always be performed to document pubic diastasis. In children
with incontinent epispadias, the bladder is a low-pressure receptacle. Thus, an
ultrasound KUB to rule out associated congenital anomalies of the upper tract is
usually sufficient in the preoperative period. Other investigations, including
cystourethrography (MCUG) and nuclear scintigraphy scans, should be performed
 5

to assess the baseline renal function in children with continent epispadias, as

tubularizing the open urethral plate will further increase the outlet resistance and
may lead to upper tract damage. However, it has been shown that the incidence of
vesicoureteric reflux before surgery ranges from 35% to 85%, due to lateral
ureteral ectopia. Due to this, some surgeons perform MCUG and nuclear
scintigraphy scans in all children.9

2.7 Treatment/Management
Surgical management of epispadias is challenging and requires technical
expertise. The surgery aims to reconstruct the genitalia and urethra, providing
optimal functional and cosmetic outcomes. At present, surgeons across the world
have adopted either of the two following approaches.
Modified Cantwell-Ransley repair: The initial procedure of mobilizing the
urethral plate followed by tubularization and ventral movement between the
corpora was described by Cantwell. Ransley changed the procedure to
include mobilization of the urethral plate with separation of the corporal bodies,
leaving the distal portion of the plate attached to the glans. Lateral glans wings are
developed. A reverse-MAGPI (meatal advancement and granuloplasty) procedure
is performed on the distal urethra. Cavernostomies are required to correct
persistent chordee. The corporal bodies are medially rotated and
reapproximated.9,10
Complete penile disassembly technique (Mitchell and Bagli): The technique
is based on the special anatomy in epispadias. According to the surgeons who first
described it, the blood supply of the hemiglans is based on the dorsal complex on
the lateral surface of the corpora. The corpora receive their blood supply from the
central artery, and the urethral plate receives its supply from the proximal urethra.
Therefore, the urethral plate can be completely lifted from the corpora and
hemiglans, and both the corporal bodies can be separated from each other. This
complete penile disassembly confers better reconstruction. Another advantage is
that the dissection extends right to the bladder neck; therefore, a bladder neck
repair (BNR) can be added in the same sitting. 10 Both techniques have their own
 6

merits and demerits, and the success of the reconstruction is based on the

surgeon's expertise.
Female Epispadias
Perineal approach: Although female epispadias is very rare, a few words
must be mentioned about the reconstruction in females. The repair of epispadias
in females follows similar surgical principles as in males. The urethra and bladder
neck are mobilized along with the vagina. During mobilization of the urethra and
bladder neck, the division of the intersymphyseal bands is crucial to ensure the
completeness of the postero-lateral dissection. The exposure of the pelvic floor
muscle complex marks the completion of posterior dissection. The mobilized
urethra is then tubularized over a self-retaining catheter. The neourethra and
the vagina are shifted posteriorly. The pubic bones are reapproximated and may
require osteotomies for this. However, this is not universally performed by all
surgeons. Subsequently, clitoroplasty and labioplasty are performed.10
Traditional staged approach: Due to the patulous bladder neck, the
traditional approach for the management of female epispadias is urethroplasty,
followed by bladder neck reconfiguration. Favorable continence results have been
depicted when epispadias repair and bladder neck reconfiguration are performed
successively at 12-18 months and 5-6 years of age respectively.11

2.8 Differential Diagnosis

Epispadias represents the mild form of the spectrum of anomalies included
in BEEC. It must be differentiated from classical bladder exstrophy, in which the
bladder plate is also exposed, apart from the open urethral plate, as seen in
epispadias. The pubic diastasis is common among both bladder exstrophy and
epispadias. Also, the most severe form of the spectrum is represented by cloacal
exstrophy. It is characterized by the presence of major anomalies, including
omphalocele, bladder exstrophy, imperforate anus, and spinal abnormalities. An
isolated epispadias can easily be distinguished from these diseases on clinical
examination. 
Hypospadias is another disease, which sounds similar, but has the exact
opposite clinical features. Hypospadias has a ventral meatus, ventral chordee,
 7

dorsally hooded prepuce, and lacks pubic diastasis. Common urogenital sinus is

frequently misdiagnosed as female epispadias, which is a disorder of sexual
differentiation. The patulous urethral opening may appear to be a single opening
in the vestibule. However, upon precise examination, the anteriorly placed vaginal
opening becomes visible.

2.9 Prognosis
Urinary continence is an important issue in these children. Variable rates of
continence, ranging from as low as 50% to up to 90%, have been mentioned by
different centers across the world.2,10 It depends on the type of epispadias in males,
as an abnormal proximal urethra and incompetent bladder neck are almost always
associated with penopubic defects. Similar to males, the continence rates after
surgery for female epispadias are also variable. It ranges between 60%-80% in
terms of daytime continence. However, achieving nocturnal continence is always
an issue in these patients. Nocturnal continence rates hardly approach more than
50%.8

2.10 Complication
Apart from wound infection and dysuria (due to bladder spasms), some
other surgical complications are possible when the surgery is not performed by an
expert.9,10
1. Urethral stricture and obstruction: Improper tissue handling and vascular
compromise can lead to the formation of strictures. These can be managed
by dilatation, but occasionally require urethral substitution.
2. Persistent chordee: This can be avoided by performing cavernostomies
before medializing and re-approximating the corporal bodies.
3. Persistent short length: Release of the corporal bodies, division of the
intersymphyseal bands, and advancing the dissection till the bladder neck
can increase the length.
4. Urethral retraction and hypospadias: During complete penile disassembly, it
not uncommon to have a deficiency of the urethral plate. In these scenarios,
some surgeons resort to performing a distal preputial tube urethroplasty.
 8

5. Partial or complete penile loss: Although the supply of the hemiglans comes
from the lateral surface of the corpora and is not based on the urethral plate,
there are cases where penile loss has occurred postoperatively, even after
careful dissection. This can be attributed to the rare vascular aberrations
apart from the precarious blood supply in newborns.

2.11 Post Operative and Rehabilitation Care

Similar to bladder exstrophy, children undergoing epispadias repair require
optimal postoperative care. The following elements must be taken care of during
management of these children:
1. Adequate pain relief: The surgery involves the repair of one of the most
sensitive parts of the urinary tract i.e., bladder neck and urethra. Therefore,
adequate postoperative analgesia is a must. Epidural analgesia in the initial
postoperative period is followed by most of the centers across the globe.
Intermittent pain can be relieved by using intravenous analgesics.
2. Bladder spasms: As soon as the child is able to take orally, an
anticholinergic medication should be started. These not only play a major
role in detrusor relaxation but also have a local anesthetic action.
3. Immobilization of the lower extremities: The immobilization of lower
extremities is preferred when osteotomy is performed. However, performing
the osteotomy is solely based on the surgeon's preference. Some surgeons
emphasize on lower limb immobilization using a hip spica even when
osteotomy is not performed. 
4. Care of the indwelling catheter: Care of the bladder catheter cannot be
emphasized more. It is always better to use a self-retaining catheter in these
surgeries.

2.12 Education
Epispadias lies on the milder end of the spectrum of anomalies in the BEEC
complex. Therefore, the morbidity in these children is significantly less compared
to those with classical bladder exstrophy and cloacal exstrophy. Although not
having urinary continence majorly affects the quality of life, parents must realize
 9

that these children are completely healthy and achieve milestones according to
their age. The continence rates after surgery are variable, ranging from 50%-85%.
Better continence rates are noticed when the reconstruction is performed by
skilled surgeons.10 Thus, it is imperative for parents to consult a trained and
experienced pediatric surgeon/urologist for reconstructive surgeries.
 CHAPTER III
CONCLUSION

Epispadias is a rare urogenital anomaly characterized by the failure of the

urethral tube to tubularize on the dorsal aspect. Although commonly associated as
a part of bladder exstrophy-epispadias-complex (BEEC), isolated epispadias
occurs less frequently. Its diagnosis is clinical and does not require any additional
investigations. The most important factor determining postoperative continence in
these patients is the availability of a skilled pediatric surgeon/urologist. This
activity outlines the etiology, pathogenesis, and surgical management of
epispadias and highlights the role of the interprofessional team in the care of
patients with this condition.
 REFERENCES

1. Gite VA, Jain HM, Bote SM, Nikose JV. Modified Cantwell-Ransley repair
for isolated continent epispadias in adult: Our experience. Indian J Plast
Surg. 2017 Jan-Apr;50(1):68-73.
2. Spinoit AF, Claeys T, Bruneel E, Ploumidis A, Van Laecke E, Hoebeke P.
Isolated Male Epispadias: Anatomic Functional Restoration Is the Primary
Goal. Biomed Res Int. 2016;2016:6983109.
3. Allen L, Rodjani A, Kelly J, Inoue M, Hutson JM. Female epispadias: are we
missing the diagnosis? BJU Int. 2004 Sep;94(4):613-5.
4. Inouye BM, Massanyi EZ, Di Carlo H, Shah BB, Gearhart JP. Modern
management of bladder exstrophy repair. Curr Urol Rep. 2013
Aug;14(4):359-65.
5. Suzuki K, Matsumaru D, Matsushita S, Murashima A, Ludwig M, Reutter H,
Yamada G. Epispadias and the associated embryopathies: genetic and
developmental basis. Clin Genet. 2017 Feb;91(2):247-253.
6. Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R,
Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen
B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A,
Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP,
Ludwig M, Nöthen MM, Jenetzky E. Phenotype severity in the bladder
exstrophy-epispadias complex: analysis of genetic and nongenetic
contributing factors in 441 families from North America and Europe. J
Pediatr. 2011 Nov;159(5):825-831.e1.
7. Canon S, Reagan R, Koff SA. Pathophysiology and management of urinary
incontinence in case of distal penile epispadias. J Urol. 2008
Dec;180(6):2636-42; discussion 2642.
8. Leclair MD, Faraj S, Villemagne T, Carrouget J, Arnaud A, Heloury Y.
Primary female epispadias: Perineal approach or Kelly repair? J Pediatr
Urol. 2018 Feb;14(1):33-39.
9. Frimberger D. Diagnosis and management of epispadias. Semin Pediatr
Surg. 2011 May;20(2):85-90.
10. Grady RW, Mitchell ME. Management of epispadias. Urol Clin North
Am. 2002 May;29(2):349-60, vi.
11. Gearhart JP, Peppas DS, Jeffs RD. Complete genitourinary reconstruction in
female epispadias. J Urol. 1993 May;149(5):1110-3.
12. O'kelly F, Keefe D, Herschorn S, Lorenzo AJ. Contemporary issues relating
to transitional care in bladder exstrophy. Can Urol Assoc J. 2018 Apr;12(4
Suppl 1):S15-S23.