An introduction into the world of embryological urology. Series: A pocket guide to Urology.

1. EVALUATION OF URO GENITAL
SINUS AND CLOACAL
ANOMALIES
Dr. Manoj Kumar Deepak
Urology resident
SRM hospital

2. THE FORMATION OF THE UROGENITAL
SINUS AND THE CLOACA
• The 4-week embryo has a cavity (internal cloaca) where the allantois, the
rectum, and the Wolffian ducts end.
• The cloacal membrane closes the cavity at the caudal end.
• Then at the fifth to sixth week of gestation, the urorectal septum
separates the cloacal into the dorsal anorectal canal and ventral
Urogenital sinus (historic observations of Rathke and Tourneux)
• Ultimately, the UGS and its diverticulum, the allantois, form the bladder
and urethra.

5. • The superior part of the urogenital sinus, continuous with the
allantois, forms the bladder.
• The constricted narrowing at the base of the urogenital sinus
forms the pelvic urethra.
• The distal expansion of the urogenital sinus forms the
vestibule of the vagina in females and the penile urethra in
males

7. FORMATION OF VAGINA IN FEMALES

9. UGS DERIVATIVES

10. • Between the 4th and 7th weeks of gestation any failure in this process results in the
congenital anomaly namely:
• UROGENITAL SINUS ABNORMALITIES
• PERSISTENT CLOACA (PC)
• (The term urorectal septum malformation sequence (URSMS) is also used to describe
this anomaly)

11. URO GENITAL SINUS ANOMALIES
• It is characterized by the confluence of the urethra and vagina to form a common
channel of varying length with a single perineal opening (urogenital sinus channel).
• In this condition, the anorectal canal opens separately on the perineum.
KEY DIFFERENTIATING FEATURE

12. • Communication of the vagina with the urinary tract may occur at any point from the
urethral meatus to the bladder, but the majority occur within the mid- to distal portion of
the urethra.

13. URETHRAL TYPE AND VAGINAL TYPE OF
UGS

14. • This anomaly cannot be seen as just a persistence of an embryological structure
because most commonly in the developed world this abnormality is a feature of
disordered sexual differentiation and most commonly associated with congenital
adrenal hyperplasia (CAH)
• Incidence as high as 1 in 500 in the non classic, mild form of CAH
• Mechanism: Circulating androgens inhibit the development of the UG sinus.
• Therefore patients with congenital adrenal hyperplasia (CAH) can develop a persistence
of UGS.

15. • A persistent urogenital sinus is seen in four entities.
PERSISTENT
UGS
PUGS with
genital
ambiguity
Most
common
Female
extrophy
PUGS without
genital
ambiguity
Persistent
cloaca

16. • Regardless of how the confluence of the urinary and genital tracts is described,
the confluence location in relation to the bladder neck is a more critical factor in
surgical management than the length of the common channel.

17. PERSISTENT CLOACAL ANOMALIES
• Cloacal anomalies are a much more complex problem
involving multiple organ systems.
• But they are rare entities with an incidence of only 1 in 20,000
to 50,000 patients.
• They are the most challenging of the anorectal malformations
(ARMs) and make up 13.6% of this group
• These children have a very broad spectrum of findings on
examination of the external genitalia.

18. H

19. PRE NATAL DIAGNOSIS
• Early diagnosis is now possible by ANTENATAL ULTRASONOGRAPHY.
• The prenatal detection of combined bladder and vaginal distention should raise the
suspicion of BOO secondary to vaginal trapping of urine.
• Diagnosis is possible as early as 19 weeks’ gestation.
• The finding of transient fetal ascites with bilobed or trilobed pelvic cystic
structures, bilateral hydronephrosis, and decreased amniotic fluid is diagnostic
• The ascites is thought to develop via retrograde flow of urine into the uterus and out the
fallopian tubes secondary to outlet obstruction from the distended vagina.
• Also a lot of cases are diagnosed via newborn CAH screening programs.
• Prenatal counseling is a fundamental component with these conditions.

20. EVALUATION OF A CHILD WITH
PERSISTENT UGS OR CLOACA

21. EVALUATION PROPER
• AIM: To attain an accurate diagnosis to allow proper management.
• Every effort should be made to establish the karyotype within 48 hours (of cultured
peripheral leukocytes)
• Careful monitoring of fluid and electrolytes (CAH) because 67% to 75% will have
significant salt wasting resulting from lack of aldosterone secretion

22. Low serum aldosterone
High Urine aldosterone
Hyponatremia
High urinary sodium
Hyperkalemia Elevated plasma renin
• LOOK FOR : Classic findings of salt wasting in 21-hydroxylase deficiency.
• This may lead to dehydration, poor feeding, hypotension, and even vascular collapse,
shock, and death (adrenal crisis).
• Hormonal levels for CAH.

23. Present to multi disciplinary DSD team
Must strictly involve parents
Stabilize the child
Electrolytes testing and correct
if needed
Do a hormonal panel for CAH
KARYOTYPING
WITHIN 48 hours
The child should not be named until the evaluation is
complete and the family has met with the multidisciplinary

24. HISTORY
• History taking remains extremely helpful in cases of genital ambiguity and can often lead
to the diagnosis itself.
• H/o Maternal ingestion of any medications like androgenic substances during
pregnancy.
• Is there any family history of early infant death or fluid and electrolyte abnormalities
(suggests CAH).
• Have other children had genital atypia or gender dysphoria?
• Are there family members with abnormal pubertal development?

25. PHYSICIAL EXAMINATION
• The physical examination can at times be very useful in determining the appropriate
management and in helping to identify other organ systems involved.
• A general examination must always preceed a genital examination.
• Note down signs of dehydration.
• Note down Abnormal facies or signs suggestive of any syndromes.
• Record the BP since Hypertension can occur in children with genital ambiguity
secondary to CAH from 11β-hydroxylase deficiency.

26. • Abdominal examination - a mass, particularly a suprapubic mass, may be present
because of a distended bladder, hydrometrocolpos, or both.
• Hydrometrocolpos is frequently an initial sign and is often the only early finding in
pure urogenital sinus abnormalities.
• In cloacal anomalies, abdominal distention may be severe secondary to
hydrometrocolpos and bladder and intestinal distention.
• The distention of these pelvic structures has resulted in edematous, cyanotic legs,
respiratory distress, and acidosis.

27. • The lower part of the back should be examined to identify any evidence of spinal cord
abnormalities, which can be associated with urogenital sinus abnormalities and are very
common with cloacal anomalies.
• Eg: sacral dimple, hair patch, or area of abnormal pigmentation, bone abnormality like
abnormal buttock crease or flattened buttocks as a result of sacral agenesis.

28. • Genital examination should note the size of the phallus and the consistency of the
erectile bodies.
• Any degree of curvature should be documented.
• Persistent isolated clitoral hypertrophy may be found in premature infants and is
not associated with DSDs or other signs of ambiguity

29. • The location of the meatus of the urogenital sinus should be noted.
• The gonads should be identified and their number, location, and consistency should be
noted.
• The labioscrotal folds should be examined for their relationship to the phallus and
rectum, and for the degree of fusion.
• Increased pigmentation of the labioscrotal folds and areola may be seen in some cases
of CAH as a result of increased levels of melanocyte stimulating hormone.
• In urogenital sinus anomalies, the location of the anus should be noted –anterior
displacement is possible
• A gentle rectal examination is helpful in identifying a cervix.

30. • Examination of a child with a persistent cloaca deserves special mention.
• There is a single perineal orifice and the rectum also enters this common channel.
• The appearance of the external genitalia assumes a much wider spectrum, from a
nearly normal female appearance to much more bizarre appearances such as complete
genital transposition or a blank-appearing (doll-like) perineum

31. RADIOGRAPHIC AND ENDOSCOPIC
EVALUATION IN UGS ABNORMALITIES
• The AIM is to define certain critical details of the
anatomy – like
The length of the
common channel
The location of the
vaginal confluence
Its proximity to the
bladder neck
Size of the vagina
Number of vaginas
Presence of a cervix
Bladder and
urethral anatomy

32. • This can be done radiographically or endoscopically.
• The location of the vagina in relation to the bladder neck is the critical issue in
determining the type of surgery, and this distance is far more important than the length
of the common channel.
• This concept of the importance of the bladder neck to confluence (urethral length) has
resulted in a new treatment algorithm for surgical management of persistent cloaca.
• Vaginal confluence with the urinary tract in pure urogenital sinus and cloacal anomalies
can occur anywhere from the bladder to a nearly normal location in the perineum.

33. RADIOLOGIC EVALUATION - USG
• Ultrasonography of the urinary tract and pelvis is mandatory.
• The location and normalcy of the kidneys, ovaries, and uterus should be defined.
• Any bladder or vaginal distention should be noted.
• A cerebriform appearance with enlargement of the adrenal glands is indicative of CAH.

34. GENITOGRAPHY
• Filling the entire bladder, urethra, vagina and sinus with contrast (i.e.,
genitography) is critical in the anatomic evaluation of many children with a
urogenital sinus or cloacal anomaly
• Genitography is performed by placing a Foley catheter with the balloon occluding the
perineal meatus and injecting a contrast agent.
• It is often helpful to pass a catheter into the bladder as for a voiding cystourethrogram.
• In some children, the vagina will only be demonstrated with voiding.
• A cervical impression at the vaginal dome denotes normal female internal organs.
• In CAH patients genitography is less useful since the internal anatomy can nearly
always be defined by an endoscopy at the time of reconstruction.

36. THE ROLE OF MRI
• Magnetic resonance imaging (MRI) is of limited value in persistent USG associated with
CAH but may be very helpful to define the anatomy in pure urogenital sinus
anomalies or other DSD and cloacal conditions.

37. ROLE OF ENDOSCOPY
• The most helpful diagnostic study in defining the anatomy for
surgical reconstruction is endoscopy.
• In patients with CAH, endoscopy is usually performed at the time of
reconstruction but may be necessary as a separate early procedure
also.
• In this situation multiple punctuate openings in the proximal portion
of the urethra may be observed.
• It would be helpful to pass a ureteral catheter into the opening and
evaluate the vagina fluoroscopically.
• The exact location, size, and number of the vaginas should be
recorded.

38. ROLE OF GONADAL BIOPSY AND
LAPAROTOMY
• Rarely, even with the evaluation described, some children with DSD require gonadal
biopsy or evaluation of the internal genitalia, which has historically been done by
laparotomy but in most cases can now be easily performed laparoscopically.
• It should be performed only when the findings would influence the gender of rearing.
• If a biopsy is necessary, a deep longitudinal incision should be made in the
gonad because the ovarian component of ovotestes may completely surround the
testicular component or be located at the poles.
• Finally, scrotal skin biopsy may at times be helpful in males with incomplete androgen
insensitivity, decreased 5α-reductase activity, or decreased dihydrotestosterone binding.

39. RADIOLOGICAL EVALUATION IN CLOACAL
ANOMALIES
• Postnatal radiographic evaluation begins with a plain abdominal film and
abdominal ultrasonography.
• A pelvic mass may be obvious on a kidneys, ureters, and bladder view.
• Retrograde flow of urine and meconium may result in the classic linear calcifications or
calcified meconium.
• More granular calcifications may be noted along the course of the rectum as a result of
urine flow into the rectum that yields calcified meconium.
• Abdominal ultrasonography is very important to visualize not only the pelvic
anatomy but also the kidneys because hydronephrosis is common.

40. • Hydronephrosis is usually related to hydrocolpos, with the distended vagina
compressing the bladder neck and resulting in varying degrees of bladder outlet
obstruction.
• Ureteral compression may also occur; Hydronephrosis caused by primary obstructive
megaureter is another possibility.
• Ultrasonography may also detect other renal anomalies- such as dysplasia, fusion
anomalies, ectopia, ureteropelvic junction obstruction, and duplication have been
seen in 33% to 83% of children with a persistent cloaca.

41. GENITOGRAPHY AND ENDOSCOPY
• Both genitography and endoscopy are mandatory to define the anatomy, which is
even more complex with a cloacal anomaly.

42. OTHER RADIOLOGICAL INVESTIGATIONS
• Assessment of other organs is necessary in cloacal anomalies because they are
associated with VACTERAL anomalies, Vertebral ,Anorectal anomalies ,Cardiac
defects, Tracheo-oesphageal fistula, Renal and, Limb abnormalities.
• Echocardiography should always be performed.
• MRI is necessary for evaluating the lumbosacral spine and assessing the pelvic
anatomy and musculature like the level of the rectal atresia and in identifying the
degree of sphincteric muscle development

43. ROLE OF ENDOSCOPY
• Because of the complexity of the anatomy and the frequency of
hydrometrocolpos, a child with a cloacal anomaly often needs endoscopy early as
a separate procedure to decompress the vagina and bladder and to irrigate and
empty the colonin order to define the anatomy.
• As a general rule, visualization of the vagina (or vaginas) is easily accomplished, but
entry into the bladder can be very difficult and even impossible at times in a neonate
because it is compressed very anteriorly by the distended vagina. Identification of the
rectal fistula can also be difficult at times.
• The vagina should always first be emptied.

44. • The length of the urethra to the vaginal and rectal confluence and the length of the common
cloacal channel should be documented.
• The length of the common channel is helpful in cloacal patients in predicting fecal continence
outcomes