Congenital Anomalies

By
Professor Assistant
Dr. Duraid Al-Hadithi
 objective

 To understand the types of congenital anomalies of

genitourinary tracts.
 To know the presentation and complications of it.
 To understand the management of the each type.
Hypospadias

 hypospadias is believed to result from arrested penile

development, leaving a proximal urethral meatus.
 Hypospadias occurs in 1 in 300 live boys; there is a 14%
incidence in siblings and an 8% incidence in offspring.
 It is caused by failure of the mesodermal urethral folds to
converge in midline.
 Associated anomalies

 chordee results from failure of urethral plate

disintegration or fibrosis of inner genital folds (which
form the spongiosum and dartos fascia).
 Undescended testes occur in 9.3% (30% with
penoscrotal or more proximal meatus).
 Intersex: Up to one third of boys with hypospadias and
undescended testes have an intersex state, usually
genetic mosaicism.
 Prostatic Utricle enlarged utricles are uncommon in
penile shaft hypospadias, with increasing incidence as
severity progresses from penoscrotal to perineal cases.
 Inguinal hernia in 9%.
 Upper tract anomalies occur in 46% when associated
with imperforate anus, 33% when meningomyelocele
is present, 12% to 50% when one other system
anomaly is present, 5% with isolated hypospadias
(screening intravenous pyelogram [IVP] not needed for
simple hypospadias).
 Hypospadias with undescended testes may indicate a
disorder of sexual differentiation, indicating need for
karyotyping.
 Hypospadias with developmental delay, dysmorphic
facies, and/or anorectal or scrotal malformations also
suggests need for karyotyping.
Classification (simplified):
 A. Hypospadias without chordee (straight erections, meatus
between midshaft and corona)
 B. Hypospadias with chordee.
Or can be classified according to site of meatus mainly into 3
types:
• anterior (distal).
➢ Glanular
➢ Coronal
➢ Subcoronal
• Middle.
➢ Distal penile
➢ Mid shaft
➢ Proximal penile
Posterior(Proximal)
➢ Peno-scrotal
➢ Scrotal
➢ Perineal
Classification
Timing of Surgery

 There are no data regarding optimal timing for

hypospadias surgery in children.
 psychological factors, anesthetic considerations, and
technical aspects of hypospadias repair should be
reviewed.
 6 - 12 months are the most accepted age after reviewing
the above factors.
How to reduce psychological stress from
hypospadias repair?

 Preoperative sedatives,
 minimal separation from family,
 same-day surgery,
 anesthetic blocks that reduce early postoperative
pain,
 dressings that fall off spontaneously
 urinary diversion into diapers
Posterior Urethral Valves

 Congenital obstruction of the urethra is one of the most

devastating anomalies that occur in the urinary tract and
is one of the few that are life threatening in the neonatal
period.
 Posterior urethral valves are obstructing flaps of tissue
in the male urethra that prevent normal urine flow from
the bladder.
 These lesions usually result in lifelong disabilities with
incontinence and decreased renal function despite
optimal medical management.
 Posterior urethral valves occur in 1 in 8000 to 25,000
live births and make up 10% of urinary obstructions
diagnosed in utero.
 There are reported cases of congenital urethral
obstruction in females, but the classic posterior urethral
valves occur only in males.
Types of PUV

 Type I. In the most common type there is a ridge lying on the

floor of the urethra, continuous with the verumontanum, which
takes an anterior course and divides into two forklike processes
in the region of the bulbomembranous junction, represent 95%
of all posterior urethral obstructions.
 type II as arising from the verumontanum and extending along
the posterior urethral wall toward the bladder neck.
 These type II folds are no longer referred to as valves.
 type III as a membrane lying transversely across the urethra
with a small perforation near its center, represent 5% .
 type III PUV
type I PUV
Pathophysiology

 Posterior urethral valves damage the entire urinary tract

proximal to the valve.
 Pulmonary hypoplasia is the most common cause of mortality
in valve patients.
 Most renal damage occurs early in fetal life.
 Bladder dysfunction is usually a lifelong problem resulting in
incontinence and poor emptying.
 Persistent hydronephrosis is common and may be due to either
ureteral or bladder dysfunction.
 Reflux usually improves and often resolves after valve
ablation.
Clinical Presentation

 most patients with posterior urethral valves are

diagnosed with prenatal ultrasound.
 Obstruction leads to decreased fetal urine output and
results in oligohydramnios.
 The observation of marked hydroureteronephrosis, a
distended bladder, and a thickened bladder wall in
utero strongly support the diagnosis of valves.
 The most severe clinical problem facing the neonate with
posterior urethral valves is pulmonary hypoplasia.
 Renal Insufficiency.
 Intrauterine growth retardation, failure to thrive,
lethargy, and poor feeding. The infants may be pale
and have poor muscle tone.
 Ascites 40% of neonatal ascites is caused by urinary
conditions.
 The majority of boys who present later in life do so with
urinary tract infection and/or voiding dysfunction.
Diagnosis and Evaluation

 Most cases of posterior urethral valves are diagnosed on

antenatal ultrasound screening.
 The VCUG with urethral imaging is the key study in the
diagnosis of valves.
 Evaluation of the infant’s renal function often takes
several days to allow for maternal effects on serum
chemistries to resolve.
 Urodynamics are necessary in understanding bladder
function throughout life.
 Nuclear renal scans are necessary in some patients to
evaluate persistent hydroureteronephrosis.
Initial Management of Posterior
Urethral Valves

 Bladder Drainage: Initial management of all patients

with posterior urethral valves requires the immediate
establishment of urinary catheter drainage from the
bladder.
 Neonates can be catheterized with a 3.5- or 5-Fr
pediatric feeding tube.
 Foley catheters have been used with success, but there
have also been reports that the balloon causes irritation
and resultant bladder spasms.
 The ill newborn with posterior urethral valves is usually
in the hands of the neonatal service for the management
of the most threatening issues such as pulmonary
hypoplasia and renal insufficiency.
 Valve Ablation: After successful initial bladder drainage
and when the patient’s medical condition has stabilized,
the next step is to permanently destroy the valves.
Epispadias
 Epispadias varies from a mild glanular defect in a
covered penis to the penopubic variety with complete
incontinence in males or females. It is most commonly
noted as a component of bladder and cloacal exstrophy.
 Isolated male epispadias is a rare anomaly, with a
reported incidence of 1 in 117,000 males.
 Most male epispadias patients (about 70%) have
complete epispadias with incontinence.
 Epispadias consists of a defect in the dorsal wall of the
urethra.
 The normal urethra is replaced by a broad, mucosal strip
lining the dorsum of the penis extending toward the
bladder, with potential incompetence of the sphincter
mechanism.
 The displaced meatus is free of deformity, and
occurrence of urinary incontinence is related to the
degree of the dorsally displaced urethral meatus
Associated Anomalies

 Anomalies associated with complete epispadias are

usually confined to deformities of the external genitalia,
diastasis of the pubic symphysis, and deficiency of the
urinary continence mechanism.
 The only renal anomaly observed in 11 cases of
epispadias was agenesis of the left kidney.
 The ureterovesical junction is inherently deficient in
complete epispadias, and the incidence of reflux has
been reported.
 inguinal hernias.
Surgical Management

 The objectives of repair of penopubic epispadias include

achievement of urinary continence with preservation of
the upper urinary tracts and the reconstruction of
cosmetically acceptable genitalia.
Phimosis And Paraphimosis

 Phimosis is defined as the inability to retract the skin

(foreskin or prepuce) covering the head (glans) of the
penis
 At birth, a physiologic phimosis with either partial or
complete inability to retract the prepuce exists owing to
natural adhesions between the glans and inner preputial
skin and/or due to a preputial ring.
 Two factors are involved in the separation of the prepuce
from the glans: (1) epithelial debris, referred to as
smegma, accumulates during the first 3 to 4 years of age
under the prepuce, and (2) intermittent penile erections.
Phimosis Paraphimosis
 Preputial retractability increases with age, with 90% of
uncircumcised boys 3 years of age with completely
retractable prepuces and less than 1% by 17 years of age
with phimosis.
 primary phimosis is almost always resolvable during
childhood without intervention.
 Secondary phimosis can result from several causes,
including forceful retraction and balanitis xerotica
obliterans .
▪ Treatments for phimosis vary depending on the child
and severity of phimosis. Treatments may include:
➢ gentle daily manual retraction,
➢ topical corticosteroid ointment application
➢ circumcision.
 Paraphimosis is a urologic emergency in which the
retracted foreskin of an uncircumcised male cannot be
returned to its normal anatomic position.
 the entrapment of the prepuce behind the glans penis,
can result in gangrene if not reduced in a timely fashion
by manipulation, dorsal slit procedure, or circumcision.
 Severe edema of the foreskin occurs within several
hours, depending on the tightness of the tip of the
foreskin, and makes reduction more difficult.
 In most cases, manual compression of the glans with
placement of distal traction on the edematous foreskin
allows reduction of the paraphimotic ring.
➢ Other treatments include: application of an iced glove
for 5 minutes, application of granulated sugar for 1 to
2 hours, placement of multiple punctures in the
edematous skin and circumcision.
meatal stenosis
 Meatal stenosis is a condition that occurs in children
almost only after circumcision during infancy.
 It can be congenital, which occurs primarily in neonates
with hypospadias, or acquired.
 The normal urethral meatus is 10 French before 4 years
of age, 12 French from 4 to 10 years of age, and 14
French after 10 years
 One theory is that after disruption of the normal
adhesions between the prepuce and glans and removal of
the foreskin a significant inflammatory reaction occurs,
resulting in a severe meatal inflammation and cicatrix
formation.
 Other theories are frenular devascularization or chronic
meatitis from diaper irritation of the exposed,
unprotected meatus BXO is another cause of meatal
stenosis .
Symptoms

 (1) typical urinary stream deviation in an upward

direction resulting from a meatal or ventral web located
at the inferior of the meatus,
 (2) a narrow, high-velocity stream,
 (3) penile pain at the initiation of micturition.
 Meatotomy or meatoplasty to treat secondary meatal
stenosis can be performed in the office or under general
anesthesia by making a ventral incision long enough to
create a normal meatal caliber.