Congenital Abnormalities of the Genitourinary System

By
Dr Faten Shafik Mahmoud
Professor of Pediatric Nursing
2-
2-5-2023
Introduction
Congenital urogenital anomalies are birth defects that
affect the urinary tract (kidneys, ureters, and bladder) or
the genital tract (reproductive organs) also called the
genitourinary system. Depending on the condition, these
anomalies can be diagnosed during development in the
infancy, or childhood, while others can go unnoticed
until symptoms develop in adolescence or adult hood.
Introduction
Normal Development

Intra-abdominal descent of the testicles occurs at 10-15 weeks'

gestation, the same time as penile development, and is regulated
by the hormones insulin-like hormone

The inguinoscrotal phase of testicular descent occurs at 26-40

weeks' gestation.The most frequent congenital defects and
abnormalities of the genitourinary tract are; Hypospadias ,
Epispadias, undescended tests
Hypospadias

• Hypospadias is a condition that is present at

birth (congenital) in which the opening of the
tube that carries urine in males, from the body
(the urethra) is located below the normal
location. not located at the tip of the penis This is
caused by incomplete development of the
urethra in utero between 8 and 20 weeks of
gestation
Hypospadias
 Hypospadias

• Various degrees of hypospadias result in an opening

located anywhere along the length of the urethra. Degrees
of hypospadias are classified according to location,

• including anterior (50% of cases), middle (20% of cases),

and posterior (30% of cases). Hypospadias may also cause
a curvature of the penis (chordae). Chordae is sometimes
evident only with an erection. Severe chordae may result
in the inability to perform sexual intercourse.
Location of urethral opening

• The most common sign of

hypospadias is when the location of
the opening through which a child
urinates (the urethral meatus) is not
present at its typical location at the
tip of the penis.
• In a child born with hypospadias, the
urethral meatus can be located just
below the tip of the penis (glanular
or coronal), the shaft of the penis
(penile), the scrotum (scrotal), and
occasionally below the scrotum
(perineal).
• This illustration depicts the many
locations where the urethral meatus
can appear in hypospadias. Each
child has only one opening through
which they urinate.
Hypospadias
• severe hypospadias without surgical correction, may result in the
inability to urinate standing and infertility.
Hypospadias
• Hypospadias Diagnosis

• Hypospadias is sometimes diagnosed by prenatal

ultrasound, but it usually occurs in males at birth. Upon
examination, the foreskin is usually incomplete and the
misplaced urethral opening is located. Mild hypospadias
may not be diagnosed unless removal of the foreskin
(circumcision) is performed. Diagnosis of hypospadias in
females requires thorough physical examination.
 Hypospadias
• Incidence and Prevalence of Hypospadias

• Hypospadias occurs in approximately 1 in 300 males and 1 in

500,000 females in the United States. Worldwide incidence is
rising.
• Signs and Symptoms of Hypospadias

 Opening of the urethra at a location other than the tip of the penis.
The opening of the urethra is near the head of the penis. Less often,
the opening is at midshaft or at the base of the penis. Rarely, the
opening is in or beneath the scrotum.
 Downward curve of penis.
 Hypospadias
• Hypospadias Infants with hypospadias should not be circumcised. The
foreskin should be kept intact for use in later surgical repair..

 Cases of hypospadias in which the urethral opening is near the tip of the glans
don’t require treatment if the urine stream is straight and there is no chordee.
 Moderate or severe hypospadias requires surgery to achieve the following:

 Allow the patient to urinate standing

 Correct curvature of the penis (chordee)

 Present a cosmetically acceptable appearance.

 Preserve fertility.

 Surgery is usually performed when the child is between the ages of 6 and 18
months.
Curved penis

• Curved penis
• The second thing that
parents may notice is that
the penis is not straight but
instead has a curve to it.
This curvature is sometimes
referred to as chordee. The
penis bends in a forward
direction which can make it
appear shorter than it
really is. The skin can also
appear underdeveloped on
the front of the penis.
hypospadias surgery

• During surgery, the

surgeon may place a
temporary drainage
catheter (tube) in the
urethra to divert the
urine in order to help
the healing process.
hypospadias surgery
• A drainage tube called a catheter may be temporarily placed in the
urethra to drain urine from the bladder and help the healing
process after surgery. The catheter may be stitched to the head of
penis to keep it in place. The catheter is typically removed in the
urology clinic one to two weeks after surgery. The remainder of the
stitches used during surgery dissolve on their own and will not have
to be removed.
• Your child will most likely have a bandage on the penis for several
days after surgery to help prevent any bleeding. We typically have
parents remove this at home by soaking the penis in the tub, which
releases the bandage.
• It is common for the penis to be swollen, red and bruised for the
first several days to weeks as it heals following surgery. After the
bandage is removed, parents will be instructed to apply petroleum
jelly to the penile area with each diaper change to help the healing
process. We often have parents email pictures or follow up in the
office to verify that the healing process is progressing nicely.
 Epispadias

•Epispadias can be associated with bladder extrophy,

an uncommon birth defect in which the bladder is inside
out and sticks through the abdominal wall. However,
epispadias can also occur with other defects.

• Incidence:- Epispadias occurs in one in 117,000

newborn boys and one in 484,000 newborn girls. The
condition is usually diagnosed at birth or shortly
thereafter.
 Hypospadias
• Surgical Complications

•Local swelling and minor bleeding are common following surgery to

repair hypospadias and usually are not severe. Antibiotics are continued after
the procedure and infection is rare. Complications include adverse reactions
to anesthesia and excessive bleeding that may require additional surgery.

• Long-term complications that may require additional surgery

include the following:

 Development of an abnormal opening from the urethra to the skin (fistula).

 Narrowing of the urethral opening (mental stenosis) or the urethra
(stricture)
 Formation of ballooning of the urethra (urethral diverticula).
Epispadias
•Epispadias is a rare birth defect located at the opening of the
urethra. In this condition, the urethra does not develop into a full
tube, and the urine exits the body from an abnormal location. The
causes of epispadias are unknown. It may be related to improper
development of the pubic bone. In boys with epispadias, the urethra
generally opens on the top or side of the penis rather than the tip.
However, it is possible for the urethra to be open along the entire
length of the penis. In girls, the opening is usually between the
clitoris and the labia but may be in the belly area.
Epispadias
 Epispadias
• Symptoms.
• In males: Abnormal opening from the joint
between the pubic bones to the area
• above the tip of the penis
• Backward flow of urine into the kidney (reflux
nephropathy)
• Short, widened penis with an abnormal curvature
Urinary tract infections
Widened pubic bone
 Epispadias

• In females:

 Abnormal clitoris and labia

 Abnormal opening from the bladder neck to the area above the
normal urethral opening
 Backward flow of urine into the kidney (reflux nephropathy)
 Widened pubic bone
 Urinary incontinence
 Urinary tract infections
Epispadias
Epispadias
• Diagnosis

 Blood test to check electrolyte levels

 Intravenous pyelogram (IVP), a special X-ray of the kidneys,
bladder and ureters
 MRI and CT scans, depending on the condition
 Pelvic X-ray
• Ultrasound of the urogenital system
Epispadias
• Treatment

• Surgical repair of epispadias is recommended in

children with more than a mild case. Leakage of
urine (incontinence) is not uncommon and may
require a second operation. Surgery generally leads
to the ability to control the flow of urine and a
good cosmetic outcome. Persistent urinary
incontinence can occur in some people with this
condition even after several operations. Upper
urinary tract (ureter and kidney) damage and
infertility may occur.
 Epispadias
• Epispadias and hypospadias nursing care.
• Relief from pain. Encourage use of relaxation techniques; apply
ice compress as indicated; and educate parents that medications
will prevent pain and restlessness and allow for healing.
• Improve urinary elimination. Encourage high fluid intake after
catheter removed, offer favored choice of liquids hourly; and
instruct parents to notify the physician of changes in the urinary
pattern or inability to void.
• Lessen anxiety. Encourage verbalization of concerns and allow
time for parents and child to ask questions about condition,
procedures, recovery; Answer questions calmly and honestly; use
pictures, drawings, and models for information; and reassure
parents and child that defect or surgery will not compromise sexual
the activity and will not affect reproductive ability
Epispadias
• Prevent infection. Obtain urine specimen for
culture and sensitivities as indicated; inform
parents to avoid allowing the child to straddle
toys, play in a sandbox, swim, or engage in rough
activities until advised by the physician; and
apply sterile technique during dressing changes,
catheter care or draining urine bag.
• Circumcision is delayed so the foreskin can be
used for the surgical repair.
Undescended tests

•An undescended testicle (cryptorchidism) is a

testicle that hasn't moved into its proper position in
the bag of skin hanging below the penis (scrotum)
before birth. Usually just one testicle is affected, but
about 10 percent of the time both testicles are
undescended.
• An undescended testicle is uncommon in general,
but common among baby boys born prematurely
Undescended tests
•The vast majority of the time, the undescended testicle
moves into the proper position on its own, within the first few
months of life. If your son has an undescended testicle that
doesn't correct itself, surgery can relocate the testicle into the
scrotum. Fieger (Dayton Children's 2022)
Undescended tests
• Causes
• The exact cause of an undescended testicle isn't known. A combination
of genetics, maternal health and other environmental factors might
disrupt the hormones, physical changes and nerve activity that
influence the development of the testicles.
• Risk factors
• Low birth weight
• Premature birth
• Family history of undescended testicles or other problems of genital
development
• Conditions of the fetus that can restrict growth, such as Down
syndrome or an abdominal wall defect
• Alcohol use by the mother during pregnancy
• Cigarette smoking by the mother or exposure to secondhand smoke
•
Undescended tests

• Complications
• In order for testicles to develop and function
normally, they need to be slightly cooler than
normal body temperature. The scrotum provides this
cooler environment. Complications of a testicle not
being located where it is supposed to be include:
• Testicular cancer. Testicular cancer usually begins
in the cells in the testicle that produce immature
sperm. What causes these cells to develop into
cancer is unknown. Men who've had an
undescended testicle have an increased risk of
testicular cancer.
Undescended tests
• The risk is greater for undescended testicles located in the abdomen than in the
groin, and when both testicles are affected. Surgically correcting an
undescended testicle might decrease, but not eliminate, the risk of future
testicular cancer.
• Fertility problems. Low sperm counts, poor sperm quality and decreased
fertility are more likely to occur among men who've had an undescended
testicle. This can be due to abnormal development of the testicle, and might get
worse if the condition goes untreated for an extended period of time.
• Other complications related to the abnormal location of the undescended
testicle include:
• Testicular torsion.
• Testicular torsion is the twisting of the spermatic cord, which contains blood
vessels, nerves and the tube that carries semen from the testicle to the penis.
This painful condition cuts off blood to the testicle.
• If not treated promptly, this might result in the loss of the testicle. Testicular
torsion occurs 10 times more often in undescended testicles than in normal
testicles.
Undescended
• Trauma.
tests
• If a testicle is located in the groin, it might be damaged from
pressure against the pubic bone.
• Inguinal hernia.
• If the opening between the abdomen and the inguinal canal is too
loose, a portion of the intestines can push into the groin.
• Nursing care
• Understanding the surgical treatment. .
• Promoting normal urine output. .
• Providing emotional support regarding body image.
• Preventing infection. Maintaining fluid volume. .
• Promoting comfort.
 Exstrophy of the bladder
• Bladder exstrophy is a congenital abnormality that
occurs when the skin over the lower abdominal wall
(bottom part of the tummy) does not form properly.
The bladder is open and exposed on the outside of the
abdomen. In epispadias, the urethra does not form
properly.
• Exstrophy means ‘turned inside out’. Bladder
exstrophy is a congenital (present at birth)
abnormality of the bladder. It happens when the skin
over the lower abdominal wall (bottom part of the
tummy) does not form properly, so the bladder is open
and exposed on the outside of the abdomen.
Exstrophy of the bladder of the

bladder
 Exstrophy of the bladder
• Signs and symptoms
• A defect in the abdominal wall occupied by both the
exstrophied bladder as well as a portion of the
urethra
• A flattened pub rectal sling
• Separation of the pubic symphysis
• Shortening of a pubic rami
• External rotation of the pelvis
 Exstrophy of the bladder
• Treatment
• Initial Closure: This is usually done soon after the baby
is born. At this first operation, the pelvic bones are
reformed into their normal ring shape (by a Pediatric
Orthopedic surgeon), the bladder, abdominal wall, and
posterior urethra are closed and the belly button is
reconstructed. This procedure takes between 4-6 hours.
Following surgery, the baby is placed with the lower legs
in traction to prevent separating the pelvic bones. Babies
are observed carefully and may be in the Intensive Care
Unit to be monitored for the first day or two. The baby
usually stays in the hospital for 3-4 weeks of healing.
 Exstrophy of the bladder
• Treatment
• Initial Closure: Antibiotics are given following the
operation to prevent infection. The tube in the bladder is
removed four weeks following surgery. The size of the
bladder gradually increases over time. In very special
circumstances with an excellent bladder plate and good-
sized penis, bladder exstrophy closure and epispadias
repair can be combined. However, this is only for very
experienced exstrophy surgeons.
 Exstrophy of the bladder

• Epispadias repair: This repair occurs around 6-12 months of age.

Time of surgery and the extent of the surgery is dependent on the
size of the bladder and the deformity of the penis. At this stage, the
urethra on top of the flattened penis is closed and transferred to
below the corporal bodies as in the normal penis.
• Continence Procedure: At this time the control of urine leakage is
repaired and then further enlargement of the bladder is preformed if
necessary. The timing of this procedure depends totally on the
capacity of the bladder and the child's emotional and developmental
status. The child must "want to be dry" and able to participate in a
voiding program
 Exstrophy of the bladder
• Nursing management:
• Supporting nursing care is important before and after
reconstructive surgery to prevent complication
• • Pre-operative care:- -Protection of bladder area from
infections and trauma -avoid irritating clothing over
exposed bladder -position by back or side -humidifying
with wet gauze -Preparation of parents and child for
surgery
• • Post-operative care:- -close monitoring of child’s
condition -special attention to urinary catheter, drainage -
teaching the parents regarding follow up care, complications
and prevention
• Nursing role towards congenital anomalies
• As a member of the team, the pediatric nurse has the responsibility
of being liaison among the family, referring physician or agency
and the medical-genetics team. The pediatric nurse is usually the
first person with whom the family has contact. The nurse can help
the family by assuring them and explaining about importance of
accurate diagnosis for appropriate management. Nursing personnel
can provide following interventions for the management of the
affected child.
• Collection of details history, especially history of prenatal, natal
and postnatal period along with history of family illness.
• Preparation of pedigree chart by interview and home visit.
Increasing public awareness about the risk factors and
etiological factors of congenital anomalies and their
preventive measures.
 Control and Prevention
• Maintaining good health and limiting risk factors can reduce the
chance of health problems for the infant.
• The Centers for Disease Control and Prevention (CDC)Trusted
Source recommend taking the following steps to reduce the chance
of congenital anomalies:
• Take 400 micrograms of folic acid per day during pregnancy.
• See a medical professional regularly.
• Avoid alcohol, cigarettes, and recreational drugs.
• Check that medications are safe to use in pregnancy.
• Try to prevent infections
 Control and Prevention
• Try to avoid getting too hot.
• Seek prompt treatment for fever.
• Maintain a moderate weight.
• Manage diabetes as best as possible.
• increasing and strengthening education of health staff and others
involved in promoting prevention of congenital anomalies; and
• screening for infections, especially rubella, varicella and syphilis, and
• consideration of treatment.
• Genetic counseling is the true preventive measure of congenital
anomalies.
• Reducing & discouraging consanguineous marriages. When blood
relatives marry each other there is an increased risk in the off spring of
traits controlled by recessive genes
 Control and Prevention
• Avoiding late marriage of females & avoidance of pregnancy
beyond the age of 35 years.
• Promotion of health of girl child & pre-pregnant health status of
females by prevention of malnutrition, anemia, folic acid
deficiency, iodine deficiency, etc.
• Encouraging the immunization of all girl children by MMR
(Mumps, Measles, and Rubella).
• Immunization by anti-D immunoglobulin to Rh-negative’ mothers
after abortion or first child birth to prevent Rh- hemolytic disease
of the newborn
• Increasing attention to the protection of individuals & whole
communities against mutagens such as X-ray & other ionizing
radiations and also for chemical mutagens (drugs, alcohol).
 Control and Prevention
 Elimination of active and passive smoking of tobacco by mothers.
 Avoidance of drug intake without counseling physician in the first
trimester of pregnancy.
 Prevention of intrauterine infections and promotion of sexual hygiene
along with general hygienic measures.
 Efficient antenatal care especially periconceptional supplementation of
folic acid, prevention of maternal malnutrition by adequate diet, prenatal
diagnosis of suspected genetic disorders and maternal diseases,
appropriate treatment of maternal diseases and infections, etc.
 Discouraging reproduction after birth of a baby with congenital
anomalies, without genetic counseling.
 Undescended tests
• Identification of present problems, its nature and severity, for necessary
interventions.
• Participation in diagnostic investigations, treatment, follow-up.
• Provide necessary information to the parents and family members.
• Motivate the family members for genetic counseling and referring to the
genetic clinic.
Thank Yo
• Participating in genetic counseling process with special training, personal
u
experience, knowledge and competency.
• Provide emotional support and answer questions asked by the counselee.
• Guide the family for rehabilitation of child and for available social and
economic support through social welfare agencies.
• Promote public awareness about the prevention of congenital anomalies
by individual or group health education or by mass media information.
•