Congenital anomalies ppt

1. Urology Department
Undergraduate courses
Congenital Genitourinary
anomalies

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3. Common congenital anomalies
Common Renal anomalies Common ureteral & renal
• Abnormal number: agenesis pelvis anomalies
• Abnormal form or position: • UPJ obstruction.
horseshoe kid. • Vesico-uretral reflux.
• Duplication.
Common Bladder anomalies • Uretrocele.
• Bladder Extrophy. • Ectopic ureter.
Common genital
Common Urethral & penile anomalies
anomalies • Undescended testis.
• Hypospadias. • Intersex (disorders of
• Epispadias. sexual differentiation).

4. Renal agenesis
Bilateral renal agenesis
• both mesonephric ducts fail to
develop.
• Incompatible with life.
Unilateral renal agenesis
• the mesonephric duct fails to develop.
• Usually there is absent ureter, trigone,
kidney and (in boys) vas deferens.

5. Horseshoe kidney
• both metanephros are fused together.
• both kidneys rotated & their lower poles
are joined in the shape of a horseshoe.
• As the fetus grows, the joined kidneys
are held up by the inferior or superior
mesenteric arteries at L3.

6. Pelviureteric junction
obstruction
Obstruction of the junction
between the renal pelvis & ureter.
Aetiology
• aperistaltic segment of
ureter due to absent muscles.
or
• crossing vessels over UPJ.

7. Pelviureteric junction
obstruction- Presentation
• may present at any time
(before birth, in childhood, or in
adulthood) by:
• abdominal mass.
• abdominal pain.
• Haematuria after fairly minor abdominal
trauma.

8. Pelviureteric junction
obstruction- Evaluation
• IVU shows delay in
appearance of contrast and
dilated renal pelvis and calices.
• Renal scan shows differential
renal function and confirms
obstruction.

9. Pelviureteric junction
obstruction- Treatment
• Surgery is indicated for:
1. obstructive symptoms,
2. stone formation,
3. recurrent urinary infection,
4. progressive renal impairment.
• Pyeloplasty is the treatment of choice
• Nephrectomy is performed if the affected
kidney is <10% of total renal function.

10. Pelviureteric junction
obstruction
• Minimally invasive alternative techniques:
1. antegrade endopyelotomy.
2. Laparoscopic pyeloplasty is becoming
more used now.

11. Vesicoureteric junction reflux
• Reflux can be defined as the retrograde
flow of urine into upper urinary tract.
• incidence of reflux is equal in both sexes.
• Reflux can be classified into 5 grades
according to severity.

12. Vesicoureteric junction reflux-
evaluation
• Micturating cystourethrography
is the gold standard for diagnosis
and evaluation of VUR grade.
• Diuretic Renal scan (DMSA) is
used to visualize scarring and
quantify differential renal function.

13. Vesicoureteric junction reflux-
Management
• antibiotic prophylaxis is recommended for
children with reflux of grades I-II.
• Surgery (uretro-vesical reimplantation or
endoscopic injection) is recommended in
reflux of grades III-V and persistent reflux
despite a trial of antibiotics.

14. Duplication of urinary system
• Ureteral duplication is the most
frequent anomaly of urinary tract
• Female: male = 2 : 1
• ureteral orifice of the upper renal segment
drains inferiorly and medially to the orifice
of the lower segment (Weigert –Myer
law).

15. Duplication of urinary system
• The orifice draining the upper
segment is often obstructed.
• The orifice of the lower segment
generally refluxes.
• Duplication is usually discovered
on an IVU.
• Management is according to
segment affected and its function.

16. Ectopic ureter
• An ectopic ureter is one that opens in
some location other than the bladder.
80% associated with duplicated system.
20% associated with single system. Single system
• Most common sites (in female): urethra,
vestibule, and vagina
• In female present as urinary incontinence.
• Most common sites (in male): posterior
urethra and seminal vesicles.
duplex system

17. Uretrocele
• A congenital cystic ballooning of the
terminal submucosal ureter.
• It is classified as simple or ectopic.
• Simple (Orthotopic) Ureterocele:
in trigone.
• Ectopic Ureterocele: can obstruct
bladder neck or even prolapse from
female urethra.

18. Undescended testis
• The incidence ranges from 3.4% to 5.8%
in full term boys
• It decreases to 0.8% in one year old boys.
• Cause is unclear, but
androgens may have an
important role.

19. Undescended testis vs Ectopic
• Undescended testis can be classified by its
location:
1. upper scrotum,
2. superficial inguinal pouch,
3. inguinal canal,
4. abdomen.
• In 80% of cases, the undescended testis will be
palpable in the inguinal canal.

20. Undescended testis vs Ectopic
• Ectopic testis (testis outside path of normal
descent) may be:
1. penile,
2. femoral,
3. perineal,
4. retrovesical.
5. Superficial inguinal pouch.

21. Undescended testis-
Complications
• Patients with undescended testes have
two major concerns:
1. increased incidence of testicular cancer:
up to 10 times higher than in a normal
testis
2. subfertility.
• Spontaneous descent of undescended
testis is rare after the age of one year.

22. Undescended testis-
• Examination (esp, under anesthesia) is
more accurate than imaging.
• Laparoscopy is the investigation of
choice for non-palpable testes to
differentiate intra-abdominal from vanished
from inguinal testis.
• Imaging: Ultrasound, CT, MRI (inaccurate).
• chromosomal and endocrine evaluation if
bilateral non-palpable testes.

23. Undescended testis
Patent internal ring
Spermatic vessels
Vas
Laparoscopy showing intra-abdominal testis

24. Undescended testis-
Management
• Orchidopexy if testis is felt in inguinal
canal or below, it should be performed as
soon as possible.
• Orchidectomy If an atrophic intra-
abdominal testis is detected especially after
puberty, as the testis is incapable of
spermatogenesis and the risk of
malignancy.

25. Retractile testis
• Commonly confused with undescended
testis.
• the testis can be delivered into bottom of
scrotum.
• low undescended testis will immediately
pop back to its undescended position after
being released.

26. Hypospadias
• congenital condition results
in underdevelopment of urethra.
• affects 3 per 1000 male infants.
• Consists of 3 anomalies:
(1) Abnormal ventral opening of the urethral
meatus.
(2) Ventral curvature of the penis (chordee).
(3) Deficient prepuce ventrally.

27. Hypospadias- Evaluation
- Site Of the meatus.
- Circumcised or not.
- Associated anomalies:
meatal stenosis, or
undecended testis.
- Penile curvature.

28. Hypospadias- Examples

29. Hypospadias- Treatment
• The child should be referred for urological
assessment and surgical treatment.
• The ideal age for surgery is 6–12 months.

30. Epispadias
• Congenital condition in
which the urethra opens
on dorsal surface of penis..
• Usually associated with bladder extrophy
(ectopia vesicae).

31. Bladder Extrophy (Ectopia vesicae)
• Failure of development of the lower abdominal wall.
• Anomaly include defect in anterior abdominal wall,
defect in anterior bladder wall and epispadias (dorsal
penile opening).

32. Posterior Urethral Valves
• Posterior urethral valves are congenital
membranel like structures located in the distal
prostatic urethra.
• most common cause of BOO in male children.
• Diagnosis is made on voiding
cystourethrography (VCUG) &
cystourethroscopy.

33. Posterior Urethral Valves
Treatment
• Fulgration of posterior valves by endoscopy.
• Urinary diversion.
• Management of renal failure.

34. Thank You