UGS SYSTEM PATHOLOGY

1. Congenital Anomalies
Of UG System
Presented by:
 Mina Tara
 Amna Sajjad
 Muhammad Anees Shahzad

2. Introduction
Congenital urogenital anomalies are birth defects
and inherited conditions that affect the urinary tract
(kidneys, ureters, and bladder) or the genital tract
(reproductive organs) also called the genitourinary
system.
Congenital urogenital anomalies can affect urine flow and
cause kidney damage that may lead to nephrotic syndrome,
acute kidney failure, or chronic kidney failure

3. Classification
 Congenital anomalies of kidney
 Congenital anomalies of lower urinary tract
 Congenital anomalies of testis and epididymis
 Congenital anomalies of penis

4. Congenital anomalies of kidney and lower
urinary tract
 Renal Agenesis
Renal agenesis is the unilateral or bilateral
absence of any trace of kidney tissue.
Unilateral renal agenesis is seen in roughly
0.1% of adults, whereas bilateral renal
agenesis occurs in 1 in 3000–4000 newborns.
The ureter may be present

5. An infant born with bilateral renal
agenesis dies within a few days after
birth. Because of the lack of urine output,
reduction in the volume of amniotic
fluid (oligohydramnios) during
pregnancy is often an associated feature.
Infants born with bilateral renal agenesis
characteristically exhibit the Potter
sequence, consisting of a flattened nose,
wide interpapillary space, a receding chin,
tapering fingers, low-set ears, hip
dislocation, and pulmonary hypoplasia

6. Etiology and Pathophysiology
The exact cause is unknown, unilateral renal
agenesis is more common with intrauterine
growth restriction (poor growth during pregnancy)
and in multiples (twins, triplets, etc.).
Renal agenesis results when the ureteric bud either fails to
develop from the mesonephric (Wolffian) duct or fails to induce
the surrounding metanephric mesenchyme to form glomeruli and
nephrons. There is a significant familial aggregation of cases.

7.  Renal hypoplasia
Renal hypoplasia occurs when one or both kidneys
are structurally normal but small in size with
fewer nephrons, lobules, and calyces than a normal
kidney. The decreased size is because of a reduced
quantity of metanephric blastema or incomplete
induction of nephron formation by the ureteral bud.
If there is unilateral hypoplasia, the normal kidney
may undergo compensatory hypertrophy, and there
may be no clinical signs unless both kidneys are
affected. One or both kidneys may be palpably
small, but definitive diagnosis requires histology.

8. ETIOLOGY
The etiology of this condition is in the mutations in kidney-related
genes, namely, HNF1B, PAX2, PBX1. However, environmental factors
like maternal diseases such as diabetes, hypertension, and
intoxication via smoking and alcohol are linked to renal hypoplasia.
Morphology is normal. The combined length of both kidneys is 80% or
lower than a single normal kidney and the glomerular filtration rate is
reduced to 30% of the normal. The number of renal lobes is reduced to
five to six or occasionally as few as one or two.
Morphology

9. Clinical features
•Most common cause of neonatal abdominal
masses; presents as flank mass or pyelonephritis
•In bilateral disease, neonates may also display
oligohydramnios and pulmonary hypoplasia
•If blastema present, patient is at a slightly higher
risk for Wilms tumor
•Segmental dysplasia is seen in children with
duplex (duplicated) kidney (incomplete fusion of
upper and lower poles)

10. Microscopic (histologic) description
•Disorganized parenchyma that is distorted by cysts
of various sizes, lined by flattened to cuboidal
epithelium
•May contain nodular blastema (undifferentiated
cells), islands of undifferentiated mesenchyme,
cartilage (10% - 20%), immature collecting ducts
with fibromuscular collars and primitive glomerular
structures

11. Horseshoe kidney
Horseshoe kidney is a common congenital
anomaly where the kidneys have moved laterally
as normal, but remain fused; 90% of horseshoe
kidneys are joined at the inferior poles. The
bridge or isthmus connecting the right and left
kidneys can comprise functional renal
parenchyma or just fibrous tissue.
Horseshoe kidney is a condition in which the
kidneys are fused together at the lower end or
base. By fusing, they form a "U" shape, which
gives it the name "horseshoe."

12. AETIOLOGY:
Early in fetal development the kidneys lie close to each
other and in front of the sacrum. Usually they migrate
upwards and rotate medially almost 90o to reach their final
position by 9 weeks. It is thought that abnormal contact
between the early developing kidneys may lead to fusion.
Subsequent abnormal migration and rotation cause the
horseshoe kidney to lie lower than normal in the abdomen,
and the renal pelvises to face anteriorly rather than medially,
so that the ureters emerge anteriorly.

13. Horseshoe kidney (HSK) is the most common renal fusion,
which is characterized by three anatomic anomalies: ectopia,
malrotation and vascular changes. Patients with HSK are prone
to a variety of complications, genitourinary and non-
genitourinary. In this paper, the anatomy of HSK is delineated
with a great emphasis on its blood supply
In addition, the abnormalities associated with HSK are
highlighted and classified in anatomical variations, congenital
anomalies as well as in pathologic conditions related to HSK.
PATHOLOGY

14.  CYSTIC DISEASES OF KIDNEY
Cystic lesions of the kidney may be congenital or
acquired, nonneoplastic or neoplastic.
Majority of these lesions are congenital
non-neoplastic. Cystic lesions in the kidney may occur
at any age,
extending from fetal life (detected on ultrasonography)
to old age. Their clinical presentation may include:
abdominal mass, infection, respiratory distress (due to
accompanied pulmonary hypoplasia), hemorrhage, and
neoplastic transformation.

15. MULTICYSTIC RENAL DYSPLASIA
The term 'multicystic renal dysplasia’ or Potter type II is used for
disorganized met nephrogenic differentiation with persistence of structures
in the kidney which are not represented in normal
nephrogenesis.
Renal dysplasia is the most common form of
cystic renal disease in the newborn and infants. The condition
may occur sporadically or maybe familial and part of a syndrome
of other anomalies.

16. MORPHOLOGIC FEATURES
Renal dysplasia may be
unilateral or bilateral. The dysplastic process may involve the
entire renal mass or a part of it.
Grossly, the dysplastic kidney is almost always cystic. The
kidney or its affected part is replaced by disorderly mass of
multiple cysts resembling a bunch of grapes. Normal renal
parenchyma is almost totally obscured by the mass while
calyces and pelvis may not be recognised. The ureter is
invariably abnormal, being either absent or atretic.
Histologically, the characteristic feature is the presence
of undifferentiated mesenchyme that contains smooth
muscle, cartilage and immature collecting ducts. The cysts
in the mass represent dilated tubules lined by flattened
epithelium which are surrounded by concentric layers of
connective tissue . Glomeruli and tubules are
scanty, primitive or absent.

17. POLYCYSTIC KIDNEY DISEASE
Polycystic disease of the kidney (PKD) is a disorder in which
major portion of the renal parenchyma is converted into cysts
of varying size. The disease occurs in two forms:
A. An adult type inherited as an autosomal dominant disease; and
B. An in fan tile type inherited as an autosomal recessive
disorder.

18. CLINICAL FEATURES
The clinical manifestations depend on
age of the child. In severe form, the gross bilateral cystic renal
enlargement may interfere with delivery. In infancy, renal failure
may manifest early. Almost all cases of infantile polycystic kidney
disease have associated multiple epithelium-lined cysts in the liver
or proliferation of portal bile ductules. In older children, associated
hepatic changes develop into what is termed congenital hepatic
Fibrosis which may lead to portal hypertension and splenomegaly.

19. Congenital anomalies of testis and epididymis
 CRYPTORCHIDISM
Cryptorchidism or undescended testis is a condition in which
the testicle is arrested at some point along its descent. Its
incidence is about 0.2% in adult male population. In 70% of
cases, the undescended testis lies in the inguinal ring, in 25%
in the abdomen and, in the remaining 5%, it may be present at
other sites along its descent from intra-abdominal location to
the scrotal sac.

20. ETIOLOGY
Exact etiology is being increasingly understood and
includes following factors:
1. Mechanical factors e.g. short spermatic cord, narrow
inguinal canal, adhesions to the peritoneum.
2. Genetic factors e.g. trisomy 13, maldevelopment of the
scrotum or cremaster muscles.
3. Hormonal factors e.g. abnormalities in hypothalamic pituitary-
testicular axis, deficient production of АМН, or
deficient action or production of androgens.

21. MORPHOLOGIC FEATURES Cryptorchidism is unilateral
in 80% cases and bilateral in the rest.
Grossly, the cryptorchid testis is small in size, firm and fibrotic
Histologically, thickening of seminiferous tubules begins to
occur as early as first year of life. The changes are as under
1. Seminiferous tubules There is progressive loss of germ
cell elements so that the tubules may be lined by only
spermatogonia and spermatids but foci of spermatogenesis
are discernible in 10% of cases. The tubular basement
membrane is thickened and tubular diameter is reduced.
2. Interstitial stroma There is usually increase in the
interstitial fibrovascular stroma and conspicuous presence
ofLeydig cells, seen singly or in small clusters.

23. CLINICAL FEATURES
As such, cryptorchidism is completely
asymptomatic and is discovered only on physical examination.
However, if surgical correction by orchiopexy is not undertaken
by about 2 years of age, or certainly in the prepubertal period,
following significant adverse clinical outcome may result:
1. Sterility-infertility Bilateral cryptorchidism is associated
with sterility while unilateral disease may result in infertility.
2. Inguinal hernia A concomitant inguinal hernia is frequently
present along with cryptorchidism.
3. Torsion and infarction Rarely, torsion and ischaemic necrosis
of undescended testis located in the inguinal canal may occur.

24. MALE INFERTILITY
The morphologic pattern of testicular atrophy described above
for cryptorchidism can result from various other congenital or
acquired causes of male infertility. These causes can be divided
into 3 groups: pre-testicular, testicular and post-testicular.
A. Pre-testicular Causes
1. Hypopituitarism Pre -pubertal or post-pubertal
hypopituitarism such as from tumour, trauma, infarction, cyst and genetic
deficiency of FSH and LH secretion.

25. 2. Oestrogen excess Endogenous excess such as from hepatic
cirrhosis, adrenal tumour, Sertoli and Leydig cell tumour; or
exogenous excess such as in the treatment of carcinoma of the
prostate.
3. Glucocorticoid excess Endogenous excess may occur in
Cushing’s syndrome while exogenous excess may occur in the
treatment of ulcerative colitis, bronchial asthma, rheumatoid
arthritis etc.

26. B. Testicular Causes
1. Agonadism i.e. total absence of the testes.
2. Cryptorchidism or undescended testis described above.
3. Maturation arrest i.e. failure of spermatogenesis beyond
one of the immature stages.
4. Hypospermatogenesis i.e. presence of all the maturation
stages of spermatogenesis but in decreased number.
5. Sertoli cell-only syndrome

27. Post-testicular Causes
1. Congenital block e.g. absence or atresia of vas deferens.
2. Acquired block e.g. due to gonorrhoea and surgical
intervention.
3. Impaired sperm motility in the presence of normal sperm
counts e.g. immotile cilia syndrome

28. Congenital anomalies of penis
 PHIMOSIS
Phimosis is a condition in which the prepuce is too small to
permit
its normal retraction behind the glans. It may be congenital or
acquired. Congenital phimosis is a developmental anomaly
whereas acquired phimosis may result from inflammation,
trauma or oedema leading to narrowing of preputial opening. In
either case, phimosis interferes with cleanliness and predisposes
to the development of secondary infection, preputial calculi and
squamous cell carcinoma.

29.  HYPOSPADIAS AND EPISPADIAS
Hypospadias is a developmental defect of the urethra in which
the urethral meatus fails to reach the end of the penis, but
instead, opens on the ventral surface of the penis. Similar
developmental defect with resultant urethral opening on the
dorsal surface of the penis is termed epispadias. Hypospadias
and epispadias may cause urethral constriction with consequent
infection and may also interfere with normal ejaculation and
insemination. Both these urethral anomalies are more frequently
associated with cryptorchidism.