Congenital Anomaly

dr. Yacobda H. Sigumonrong, SpU

Urology Division, Department Of Surgery

Faculty Of Medicine
University Of Sumatera Utara
Learning Objective
• Mampu menjelaskan kelainan congenital pada ginjal (termasuk ginjal tapal
kuda)
• Mampu menjelaskan kelainan congenital pada ureter
• Mampu menjelaskan kelainan congenital pada buli buli
• Mampu menjelaskan dan melakukan diagnosis kelainan congenital pada uretra
(hipospadia, epispadia)
• Mampu penjelaskan dan melakukan diagnosis kelainan congenital pada testis
(kriptorkidismus, retractile testis)
• Mampu menjelaskan, melakukan diagnosis, hingga tata laksana kelainan
seperti fimosis dan parafimosis
Congenital Anomalies of Upper Urinary Tract

Congenital Anomalies of Bladder

Male Genital Anomalies

Standar Kompetensi Dokter Indonesia
(SKDI)
Tingkat
No Topik Tingkat Kemampuan
Kompetensi
• Mendiagnosis
1 Congenital Anomaly 2
• Merujuk

Lulusan dokter mampu :

•Membuat diagnosis klinik terhadap penyakit tersebut
•Menentukan rujukan yang paling tepat bagi penanganan pasien selanjutnya
•Menindaklanjuti sesudah kembali dari rujukan
References
HORSESHOE KIDNEY
Congenital Anomalies of Upper Urinary Tract
 Horseshoe Kidney

• Most common 🡪 0.25% of the

population (1:400)
• The anomaly consists of two distinct
renal masses lying vertically on
either side of the midline and
connected at their respective lower
poles by a parenchymatous or
fibrous isthmus that crosses the
midplane of the body.
Horseshoe Kidney

• The isthmus is bulky and consists of

parenchymatous tissue.
• The calyces, normal in number, are
atypical in orientation. Because the
kidney fails to rotate, the calyces
point posteriorly, and the axis of
each pelvis remains in the vertical or
obliquely lateral plane.
• The blood supply can be variable.
Horseshoe Kidney

• UPJ obstruction, causing significant hydronephrosis, occurs in as many as one

third of individuals with horseshoe kidneys.
• Sixty percent of patients with horseshoe kidneys remained asymptomatic for an
average of 10 years after discovery.
• The organ systems most commonly affected include the skeletal, cardiovascular
(primarily ventriculoseptal defects), and central nervous system.
• Anorectal malformations and neural tube defects are also frequently
encountered.
• Horseshoe kidney is seen in 60% of females with Turner syndrome
 Symptoms

• At least 50% with horseshoe kidneys are

asymptomatic
• Symptoms are typically related to
hydronephrosis, infection, or calculus
formation. The most common symptom is
vague abdominal pain that may radiate to
the lower lumbar region.
• 5-10% of horseshoe kidneys are
confirmed after palpation of an
abdominal mass
 Diagnosis
• The classic radiologic features on a plain film
of the abdomen include kidneys that are low
lying and close to the vertebral column and
that have a vertical or outward axis with the
lower poles being more medial than in the
normal kidney
• Prenatal ultrasonography detects most
horseshoe kidneys
• Radionuclide scanning demonstrates the
abnormal axis of a horseshoe kidney
• CT and MRU can also be used to characterize
the isthmus.
Prognosis

• Patients with horseshoe kidneys for an average of 10 years after discovery and
found that almost 60% of these remained asymptomatic.
• Kidney cancers have been reported in about 150 individuals with horseshoe
kidney
• The incidence of Wilms tumor in horseshoe kidneys is 1.76 to 7.93 times higher
than that expected in the general population
URETEROPELVIC JUNCTION
OBSTRUCTION (UPJO)
UPJO

• Obstruction is the single largest entity leading to renal insufficiency in boys

younger than 1 year and is the largest single cause of renal failure requiring
transplantation.
• Progression of obstructive renal dysfunction may be seen in two forms, one with
an uncorrected, partially obstructive lesion (eg: UPJO) and the other with a
previously obstructed but corrected lesion that has produced some degree of
renal damage.
• The second situation reflects the fact that the damaged kidney does not have the
functional reserve of a normal kidney by which it may maintain its absolute
function with time.
• Elevated creatinine indicates altered absolute renal function but is relatively
insensitive in the early stages of progression.
UPJO

• Impairment of renal functional development should be considered a determinant

of obstruction that warrants intervention.
• COU is distinct from acquired obstruction in a mature kidney.
• Obstructed renal tissues show disorganization of structure with primitive forms of
renal tissues, called dysplasia.
• Structural alterations caused by obstruction are evident in hydronephrosis as a
distortion in normal architecture and relative alterations in the amount of renal
tissue elements. Subtle changes are functionally important and include fibrosis
and increased interstitial tissue, as well as abnormal tubules and glomeruli.
 UPJO
• The effects of obstruction on the
developing kidney vary with the
time of onset, as well as the
severity of obstruction.
• Obstruction of a developing
kidney produces alterations in
• The regulation of growth, tissue
differentiation, and ECM and
fibrosis, as well as alterations in
functional integration of the
kidney.
VESICOURETERAL REFLUX
Normal Anatomy
Vesicoureteral Reflux
• Vesicoureteric reflux is an anatomical and/or
functional disorder with potentially serious
consequences, such as renal scarring,
hypertension and renal failure
• Vesicoureteric reflux is a very common urological
anomaly in children, with an incidence of nearly
1%.
• The main management goal is the preservation of
kidney function, by minimising the risk of
pyelonephritis.
Vesicoureteral Reflux

• The incidence of VUR is much higher among children with UTIs (30-50%,
depending on age).
• Urinary tract infections are more common in girls than boys due to anatomical
differences. However, among all children with UTIs, boys are more likely to have
VUR than girls
• Boys also tend to have higher grades of VUR diagnosed at younger ages, although
their VUR is more likely to resolve itself
• The spontaneous resolution of VUR is dependent on age at presentation, sex,
grade, laterality, mode of clinical presentation, and anatomy
Vesicoureteral Reflux

• The spontaneous resolution of VUR is dependent on age at presentation, sex,

grade, laterality, mode of clinical presentation, and anatomy
• Faster resolution of VUR is more likely with age less than one year at
presentation, lower grade of reflux (grade 1-3), and asymptomatic presentation
with prenatal hydronephrosis or sibling reflux.
• The overall resolution rate is high in congenital high-grade VUR during the first
years of life.
Diagnostic Evaluation
• Detailed medical history (including family history,
and screening for LUTD)
• Physical examination including blood pressure
measurement, urinalysis (assessing proteinuria),
urine culture, and serum creatinine in patients
with bilateral renal parenchymal abnormalities.
• The standard imaging tests include renal and
bladder US, VCUG and nuclear renal scans.
• The criterion standard in diagnosis of VUR is
VCUG, especially at the initial work-up.
Disease Management
•Non-surgical:
• The objective of conservative therapy is prevention of febrile UTI.
• The conservative approach includes watchful waiting, intermittent
or continuous antibiotic prophylaxis, and bladder rehabilitation in
those with LUTD
•Surgical:
• Surgical treatment can be carried out by endoscopic injection of
bulking agents or ureteral re-implantation
Congenital Anomalies
of Bladder
 Types of urachal anomalies:

1. Patent urachus (50%)

Urachal Anomalies 2. Umbilical-urachus sinus (15%)

3. Urachal cyst (30%)

4. Vesicourachal diverticulum (3% to

5%)
 Urachal Anomalies

• Patent urachus
• Patent urachus is explained by
nondescent of the bladder or failure
of the epithelial-lined urachal canal
to obliterate
• A patent urachus is suspected in the
neonatal period by continuous or
intermittent drainage of fluid from
the umbilicus
• The most common organisms
cultured from the umbilical drainage
include Staphylococcus aureus,
Escherichia coli, Enterococcus,
Citrobacter, and, rarely, Proteus
species
• Management of an infected urachus
with abscess formation includes initial
drainage under antibiotic coverage.
Once the infection has subsided,
complete excision of the patent
urachus, including a bladder cuff, is
required
Umbilical-Urachal Sinus

• In the umbilical-urachus sinus, the

urachus obliterates at the bladder
level but remains open at the
umbilical site, causing a continuously
draining sinus.
• The manifestation is similar to that
of the patent urachus.
• The diagnosis is made by sinugram.
Vesicourachal
Diverticulum
• The urachus obliterates almost
completely, except at the level of
bladder apex. Here it forms a
diverticulum of varying size.
• These lesions are usually
nonsymptomatic and found
incidentally on nonrelated
radiographic workups.
Bladder Diverticulum
• Bladder diverticula are caused by infravesical
obstruction, iatrogenic after bladder surgery,
or as a congenital defect.
• Independent from the cause, all diverticula
develop as herniation of bladder mucosa
between defects of bladder smooth muscle
fibers.
• Primary diverticula arise as a localized
herniation of bladder mucosa at the ureteral
hiatus and are most likely caused by a
congenitally decient bladder wall.
• Secondary paraureteral diverticula are
acquired and develop as a result of existing
infravesical obstruction.
 • Bladder diverticula can be detected on prenatal ultrasound,
but the gold standard remains VCUG, which will reveal
possible accompanying VUR.
Bladder • Duplication of the bladder and urethra can be complete or
Diverticulum incomplete. It can occur in either the coronal or sagittal plane.
• Symptomatic diverticula, especially in conjunction with VUR,
should be treated surgically.
Male Genital Anomalies
PHIMOSIS
• At the end of the first year of
life, retraction of the foreskin
behind the glandular sulcus is
possible in approximately
50% of boys 🡪 this rises to
approximately 89% by the
age of three years.
• The incidence of phimosis is
8% in six to seven year olds
and just 1% in males aged
sixteen to eighteen years
Definition
• The prepuce (foreskin) is too tight to be retracted to reveal the glans penis

Classification
1. Physiologic phimosis occurs naturally in newborn males.
Results from adhesions between the epithelial layers of the inner
prepuce and glans
2. Pathologic phimosis 🡪 an inability to retract the foreskin after it was
previously retractible or after puberty, usually secondary to distal
scarring of the foreskin.
Poor hygiene and recurrent episodes of balanitis or
balanoposthitis lead to scarring of preputial orifices, leading to
pathologic phimosis.
Phisiologic phimosis VS pathologic phimosis
 Diagnostic Evaluation

Physical examination

If the prepuce is not retractable, or only partly retractable, and shows a

constrictive ring on drawing back over the glans penis

Disproportion between the width of the foreskin and the

diameter of the glans penis has to be assumed.

In addition to the constricted foreskin 🡪 there may be adhesions between the

inner surface of the prepuce and the glanular epithelium and/or a fraenulum
breve.
 Management
Conservative treatment is an option for primary phimosis.
The steroid therapies were more effective over placebo and manual
stretching
A corticoid ointment or cream (0.05-0.1%) can be administered twice a day
over a period of 20-30 days with a success rate of > 90%

Operative treatment of phimosis

•dependent on the caregivers’ preferences
•can be plastic or radical circumcision after completion of the second year of
life

Circumcision
•An absolute indication for secondary phimosis
•Contraindications : an acute local infection and congenital anomalies of the
penis, particularly hypospadias or buried penis.
Follow Up

• Any surgery done on the

prepuce requires an early
follow-up of four to six
weeks after surgery
PARAPHIMOSIS
• Paraphimosis is a urologic
emergency in which the
retracted foreskin of an
uncircumcised male
cannot be returned to its
normal anatomic position.
• It is important for
clinicians to recognize this
condition promptly, as it
can result in gangrene and
amputation of the glans
penis.
• Prompt urologic
intervention is indicated
Etiology
• Paraphimosis can occur after retraction of the
foreskin during detailed penile examination,
cleaning of the glans penis, urethral
catheterization, or cystoscopy.
 Pathophysiology

When the foreskin becomes trapped behind the corona for a prolonged
period, it forms a tight band of tissue around the penis.

This constricting ring initially impairs venous blood and lymphatic flow from
the glans penis and prepuce, in turn causing edema of the glans

As the edema worsens, arterial blood flow becomes compromised

The ensuing tissue ischemia and vascular engorgement 🡪 painful swelling of

the glans and prepuce 🡪 lead to gangrene or autoamputation of the distal
penis.
Presentation

• In the pediatric population, paraphimosis may manifest as acute urinary tract

obstruction and may be reported as obstructive voiding symptoms.
• On examination, the glans penis is enlarged and congested with a collar of
edematous foreskin.
• A constricting band of tissue is noted directly behind the head of the penis
• If paraphimosis is left untreated for too long, necrosis of the glans penis can
occur.
Treatment
• Manual compression of the
oedematous tissue with a subsequent
attempt to retract the tightened
foreskin over the glans penis.
• Injection of hyaluronidase beneath
the narrow band or 20% mannitol
may be helpful to release the foreskin
• If this manoeuvre fails, a dorsal
incision of the constrictive ring is
required. Depending on the local
findings, a circumcision is carried out
immediately or can be performed in a
second session
Follow Up

• Any surgery done on the prepuce requires an early follow-up of four to six weeks
after surgery
HIPOSPADIA
 The total prevalence of
hypospadias in Europe is 18.6
new cases per 10,000 births
(5.1-36.8) according to the
recent EUROCAT registry-based
study.
Epidemiology
This incidence was stable over
the period of 2001 to 2010
 Risk factors associated with hypospadias are
likely to be genetic, placental and/or
environmental

Endocrine disorders can be detected in rare

Risk cases.

Factors Babies with a low birth weight have a higher

risk of hypospadias

Endocrines disruptors are one component of a

multi-factorial model for hypospadias.
Classification
• Hypospadias are usually classified based on the
anatomical location of the proximally displaced
urethral orifice:
• Distal-anterior hypospadias (located on the
glans or distal shaft of the penis and the most
common type of hypospadias);
• Intermediate-middle (penile);
• Proximal-posterior (penoscrotal, scrotal,
perineal).
• A simple classification related to
severity of the problem, which
considers penile length, glans size,
shape, urethral plate quality and
penile curvature is commonly used.
• Mild hypospadias (glanular or penile
isolated hypospadias without
associated chordee, micropenis or
scrotal anomaly);
• Severe hypospadias (penoscrotal,
perineal hypospadias with
associated chordee and scrotal
anomalies).
 Diagnosis includes a description of the local findings:
1. Position, shape and width of the orifice;
2. Presence of atretic urethra and division of corpus
Diagnostic spongiosum;
evaluation 3. Appearance of the preputial hood and scrotum;
4. Size of the penis;
5. Curvature of the penis on erection.
• The diagnostic evaluation also includes an assessment of associated anomalies,
which are:
1. Cryptorchidism (in up to 10% of cases of hypospadias);
2. Open processus vaginalis or inguinal hernia (in 9-15%).
• Severe hypospadias with unilaterally or bilaterally impalpable testis, or with
ambiguous genitalia, requires a complete genetic and endocrine work-up
immediately after birth to exclude DSD, especially congenital adrenal hyperplasia
• Urine trickling and ballooning of the urethra requires exclusion of meatal stenosis
Managemen
t
 Indication for reconstruction and therapeutic
objectives
The indications for surgery are:
1. Proximally located (ectopic) meatus causing ventrally deflected or spraying urinary
stream;
2. Meatal stenosis;
3. Anterior curvature of the penis;
4. Cleft glans;
5. Rotated penis with abnormal cutaneous raphe;
6. Preputial hood;
7. Penoscrotal transposition;
8. Split scrotum.
 Age at surgery

Complication rate after

primary TIP repair was 2.5
The age at surgery for
times higher in adults than
primary hypospadias repair
in the paediatric group
is usually 6-18 (24) months
according to a recent
prospective controlled study
Follow up

• Long-term follow-up is
necessary up to
adolescence to detect
urethral stricture,
voiding dysfunctions and
recurrent penile
curvature, diverticula,
glanular dehiscence
EPISPADIA
• Epispadias varies from a
mild glanular defect in a
covered penis to the
penopubic variety with
complete incontinence
in males or females
• Most commonly noted
as a component of
bladder and cloacal
exstrophy
Male Epispadias • Consist of a defect in the dorsal wall
of urethra
• Normal Urethra 🡪 replaced by a
broad, mucosal strip linning the
dorsum of the penis extending
toward the bladder, with potential
incompetence of the spinchter
mechanism
• The displaced meatus may be found
on the glans, on penile shaft or in the
penopubic region
• All types of epispadia 🡪 associated
with varying degress of dorsal
chordee
Associated
Anomalies

• Usually confined to deformities of

the external genitalia
• Diastasis of the pubic symphysis
• Deficiency of urinary continence
mechanism
Surgical Management

• The objective of repair of penopubic epispadias include achievement of urinary

continence with preservation of the upper urinary tracts and reconstruction of
cosmetically acceptable genitalia
• The surgical management virtually identical to that in closed bladder exstrophy
• The success of genital reconstruction 🡪 good long term follow up
Female Epispadias
• Rare congenital anomaly
• The degrees of epispadias in female patients
:
1. Severe degree of epispadias 🡪 urethral
orrifice simply appears patulous
2. Intermediet : Urethra is dorsally split along
most of urethra
3. Most severe degree of epispadia : urethral
cleft involves the entire length of urethra
and sphincteric mechanism and patient is
rendered incontinent
Cryptorchidism & Retractile Testes
Cryptorchidism

• Cryptorchidism or undescended testis is one of

the most common congenital malformations of
male neonates.
• Spontaneous descent usually occurs within the
first months of life
• This congenital malformation may affect both
sides
• In newborn cases with non-palpable or
undescended testes on both sides and any sign
of disorders of sex development (DSDs) like
concomitant hypospadias, urgent
endocrinological and genetic evaluation is
required
 Classification

• Cryptorchidism or undescended is classified into palpable and non-palpable testes

• clinical management is decided by the location and presence of the testes
• 80% of all undescended testes are palpable.
• Acquired undescended testes can be caused by entrapment after herniorrhaphy or
spontaneously referred to as ascending testis.
• Palpable testes include true undescended testes and ectopic testes.
• Non-palpable testes include intra-abdominal, inguinal, absent, and sometimes also
some ectopic testes.
• The diagnosis of palpable or non-palpable testis needs to be confirmed once the child
is under general anaesthesia, as this is the first step of any surgical procedure for
undescended testes.
 • Undescended testes:
• A true undescended testis is on its normal path
of descent but is halted on its way down to the
scrotum.
• Depending on the location, the testes may be
palpable or not, as in the case of testes arrested
in the inguinal canal.
• Ectopic testes:
• If the position of a testis is outside its normal
Palpable Testes path of descent and outside the scrotum, the
testis is considered to be ectopic.
• The most common aberrant position is in the
superficial inguinal pouch.
• Usually, there is no possibility for an ectopic
testis to descend spontaneously to the correct
position; therefore, it requires surgical
intervention.
• An ectopic testis might not be palpable due to its
position.
Palpable Testes

• Retractile testes
• Retractile testes have completed their descent into a proper scrotal
position but can be found again in a suprascrotal position along the path of
their normal descent.
• This is due to an overactive cremasteric reflex.
• Retractile testes can be easily manipulated down to the scrotum and
remain there at least temporarily. They are typically normal in size and
consistency.
• However, they may not be normal and should be monitored carefully since
up to one-third can ascend and become undescended
 Non-Palpable Testes
• Intra-abdominal testes:
• Intra-abdominal testes can be located in different positions, with most of them being found
close to the internal inguinal
• Possible locations include the kidney, anterior abdominal wall, and retrovesical space.
• In the case of an open internal inguinal ring, the testis may be peeping into the inguinal canal.
• Absent testes
• Monorchidism can be identified in up to 4% of boys with undescended testes, and
anorchidism (bilateral absence) in < 1%.
• Possible pathogenic mechanisms include testicular agenesis and atrophy after intrauterine
torsion with the latter one most probably due to an in utero infarction of a normal testis by
gonadal vessel torsion.
• The term vanishing testis is commonly used for this condition
Diagnostic
Evaluation - History
• Ask for maternal and paternal risk
factors, including hormonal
exposure and genetic or hormonal
disorders.
• If the child has a history of
previously descended testes this
might be suggestive of testicular
ascent
• Prior inguinal surgery is indicative of
secondary undescended testes due
to entrapment.
Diagnostic Evaluation -
Physical Examination
• An undescended testis is pursued by carefully
advancing the examining fingers along the
inguinal canal towards the pubis region, perhaps
with the help of lubricant.
• A possible inguinal testis can be felt to bounce
under the fingers
• A non-palpable testis in the supine position may
become palpable once the child is in a sitting or
squatting position.
• If no testis can be identified along the normal
path of descent, possible ectopic locations must
be considered.
Diagnostic Evaluation - Physical Examination

• In case of unilateral non-palpable testis, the contralateral testis needs to be

examined. Its size and location can have important prognostic implications.
• Any compensatory hypertrophy suggests testicular absence or atrophy.
• Nevertheless, this does not preclude surgical exploration since the sign of
compensatory hypertrophy is not specific enough
• In case of bilateral undescended testes and any evidence or sign of DSDs, such as
genital ambiguity, or scrotal hyperpigmentation, further evaluation including
endocrinological and genetic assessment becomes mandatory
Diagnostic Evaluation - Imaging Studies

• In case of bilateral undescended testes and any evidence or sign of DSDs,

such as genital ambiguity, or scrotal hyperpigmentation, further evaluation
including endocrinological and genetic assessment becomes mandatory
• Consequently, the use of different imaging modalities, such as US or MRI, for
undescended testes is limited and only recommended in specific and selected
clinical scenarios (e.g. identification of Müllerian structures in cases with
suspicion of DSDs)
 • Treatment should be started at the age of six months.
After that age, undescended testes rarely descend
Management • Early timing of treatment is also driven by the final adult
results on spermatogenesis and hormone production, as
well as on the risk of tumor development
Medical Therapy

• Short-term side effects of hormonal treatment include increased scrotal

erythema and pigmentation, and induction of pubic hair and penile growth.
• Some boys experience pain after intramuscular injection of human chorionic
gonadotropin (hCG).
 • Medical therapy for testicular descent
• Hormonal therapy using hCG or
gonadotropin-releasing hormone
(GnRH)
Medical • Almost 20% of these descended testes
Therapy have the risk of re-ascending later
• Success rates depend on testicular
location. The higher the testis is located
prior to therapy, the lower the success
rate.
 • Medical therapy for fertility potential
• There is no difference in treatment with
GnRH before (neo-adjuvant) or after
(adjuvant) surgical orchidolysis and
orchidopexy in increasing fertility index
Medical • hCG treatment may be harmful to future
spermatogenesis through increased
Therapy apoptosis of germ cells, including acute
inflammatory changes in the testes and
reduced testicular volume in adulthood
• Important on the long-term effects are
still lacking, thus the Nordic consensus
does not recommend hormonal therapy
 • If a testis has not concluded its descent at
the age of six months (corrected for
gestational age), and since spontaneous
testicular descent is unlikely to occur after
that age, surgery should be performed
Surgical Therapy within the subsequent year, and by age
eighteen months at the latest
• Early orchidopexy can be followed by partial
catch-up testicular growth, which is not the
case in delayed surgery.
 Surgical Therapy
• Palpable testes
• Surgery for palpable testes includes orchidofunicolysis and orchidopexy, either via an
inguinal or scrotal approach.
• The latter approach is mainly reserved for low-positioned, undescended testes
• Non-palpable testes
• For non-palpable testes, surgery must clearly determine whether a testis is present or
not. If a testis is found, the decision has to be made to remove it or bring it down to the
scrotum.
• The easiest and most accurate way to locate an intra-abdominal testis is diagnostic
laparoscopy
• Subsequent removal or orchidolysis and orchidopexy can be carried out using the same
approach to achieve the therapeutic aims
• In case of a vanishing testis, the procedure is finished once blind-ending spermatic
vessels are clearly identified.
• Although boys with one undescended testis
have a lower fertility rate, they have the same
paternity rate as those with bilateral descended
testes.
• Boys with bilateral undescended testes suffer
both, lower fertility and paternity rates. Undescended
• Fertility rate is the number of offspring born per
mating pair, individual of population, whereas testes and
paternity reflects the actual potential of
fatherhood
fertility
• The age at which surgical intervention for an
undescended testis occurs seems to be an
important predictive factor for fertility later in
life.
 • Boys who are treated for an undescended testis
Undescended have an increased risk of developing testicular
testes and malignancy.
• Screening and self-examination both during and
malignancy after puberty is therefore recommended
 Pediatric Urology,
EAU Guidelines
2020
References
Campbell Wallsh
th
Urology 12
Edition
Thank You