DEVELOPMENT OF THE UROGENITAL SYTEM AND
MALFORMATIONS - Dr Kabare
PREVIEW
Embryo has three layers
• Endoderm - forms the lining of primitive gut, part of the
urinary apparatus
• Ectoderm – covers the outer surface of the embryo.
Some of the lower genital tract.
• Mesoderm – muscles, skeleton connective tissues,
vascular systems, major portions of the urogenital
system.
URINARY SYSTEM
• The first precursor of urogenital system appears at 3
weeks. Cells sprout from the nephrogenic cord to form
the pronephros. These cells further unite to form the
pronephric (wolffian) duct. The duct Lumen establishes
connection with hindgut lumen and this area dilates to
form the cloaca.
• Pronephros is rudimentary and non functional and quickly
disappear. The pronephric duct persists and is used by
the second excretory organ, it becomes the mesonephric
duct.
• Mesonephric stage: As pronephros disappears
nephrogenic cord divides into cell masses; which
becomes vesicles which form the cellular membrane of
mesonephric glomeruli. Mesonephric duct forms the
ureteric bud which gives origin to distal ureter. The
major portion of genital system in the male is of
mesonephric duct. In the female the mesonephric duct
makes pathway for paramesonephric ducts which form
most of the genenital tract mucosa.
• Mesenchyme around the mesonephric duct proliferates to
form the urogenital ridges. At maturity each mesonephric
unit has a functional glomerulus and a tubule which
empty into the mesonephric duct
• METANEPHROS (Permanent Kidney): The mesonephros
regresses cranial caudally and is replaced by
metanephros. This appears on the fifth week, same time
as the gonads.
• Collecting ducts. Ureteric bud forms on the caudal part
of mesonephric duct. It gives rise to; collecting tubules,
calices renal pelvis and ureter. The expanded tip of the
bud becomes the ampulla which subdivides and
eventually makes 12-15 generations of collecting tibules.
• Dilation of the tubular branches produce renal pelvis,
major and minor calices. Middle generations form the
medullary collecting tibules.
• Nephrons: Ureteric bud cranially grows into the dorsal
end of the nephrogenenic cord, thus the bud gets into
contact with the metanephric blastema.
• Blastema becomes cap – like structure over the
ampullated end of the bud. Blastema cells are influenced
by the ampulla to form cell clusters which elogate and
differentiate into metanephric tubules. Mid portion of
the tubules produce proximal and distal convoluted
tubules. Central – mid portion forms the loop of henle
• The cup shaped end of the metanephric tubule becomes
the Bowman’s capsule. Its invaginated by a tuft of
capillaries forming the glomerulus.
• Formation of urine is thought to begin at 10-13 weeks
when 20% of nephrous are morphologically mature.
• There are positional changes of the kidney due to 90o
medial rotation of the kidney. Midline structures growth
and differential growth of the lumbosacral area and
reduction of curvature of the embryo
CONGENITAL ANOMALIES OF THE FEMALE GENITALIA
• Most developmental defects of the perineum, vulva and
vagina are discovered when premenarchal child is
examined.
• Those of the uterus, tubes and ovaries are rarely found
before menarche.
THE VULVA
• Position variations, contour size and texture.
• Vulva detrousse – deeply set vulva between bulging sides
of perineum associated with narrow pubic arch and a
narrow perineal body. Firm perineal muscles and more
than normal hair growth on thighs, body and arms
• Duplication of the vulva – very rare more an indication of
imperfect twining. Also associated with two vaginal and
uterus.
• Labia – Hypertrophy – commonest occurrence of both
labia minor and majora in most cases no treatment is
necessary.
• Ambiguous genitalia – occur in congenital adrenacortical
hyperplasia female and male pseudohermaphroditism
etc.
• They reveal – enlargement of the phallus labio – scrotal
folds and hypospadic urethra emptying into the
urogenital sinus.
CLITORIS
• Hypertrophy variable sizes
• Splitting or cleavage of clitoris. Usually a part of a major
abnormality consisting of extrophy of the bladder
hyposperdia or splitting of urethra. Anterior portion of
labia majora are widely separated and pubic hair when it
appears on mons pubic is abscent on the midline.
• Agenesis of the clitoris is very rare
• Caudal Appendage - Tail like caudal appendage – rare
PROLAPSE OF UTERUS AND VAGINA
Extremely rare condition and associated with lack of
development of perineal floor.
ANOMALITIES OF CLOACAL DIVISION
Ano-rectal malformations:
• Imperforate anus
• Fistula – urorectal communications
ANOMALIES OF THE URETHRA BLADDER AND URETER
• Epispadias
• Hypospadias – associated – incontinence of urine
• Urethral duplication – complete, partial
CONGENITAL ANOMALIES OF URETHRAL STRUCTURES
• Relatively Common
• Most of them at the external meatus obstruction of the
urethra causes distortion of the urinary tract above
§ UTI
§ Hydro – ureter
§ Hydronephrosis
• Symptoms – difficult in urinating, bacturia, enuresis,
dribbling incontinence, frequent terminal
haematuria, abdominal or flank pain.
• Extreme – loss of renal function
1. Congenital Urethral Contratures - Occurs at
vesicourethral juncture, may have serious consequence if
untreated.
2. Congenital Urethral Cysts.
3. Congenital Urethral Diverticulum
4. Extrophy of the bladder
ANOMALIES OF THE URACHUS
This may present as umbilicovesical fistula or urachal cyst.
Rx is surgical excision
URETERAL ECTOPY
Position anomalies of ureteral orifices may be formed
urogenital cleft, urethra, vagina, cervix, uterus, it can be one
cause of urine incontinence.
ANOMALIES OF THE HYMEN
• Anterior displacement
• Hymenal septum. Thick median septum creating two
orifices may have possibility of septate vagina and
duplication of internal genitalia.
• Cribriform hymen – may lead to frequent vaginities.
• Almost imperforate hymen
• Imperforate hymen
• Large hymenal orifice
Imperforate hymen
• This may produce mucocolpos in infancy and
hematocolpos when the girl starts to menstruate.
• The imperforate hymen is thought to be a remnant of
urogenital membrane. Imperforate hymen results when
mesoderm of primitive streak abnormality invades the
urogenital portion of the cloacal membrane.
Dx:
• Infants – may present with abdominal pelvic mass due to
mucoid distension of the vagina displacing the small
uterus up-wards.
• Often diagnosis is made in early adolescence when
menstrual flow fails to appear despite recurrent cyclic
menstrual symptoms, may also present with urinary
difficulties, lower abdominal pain and vaginal
discomfort. Inspection of vulva – bulging dome – shaped
tense hymenal membrane
• May have:
o Hematocolpos
o Hematometra
o Tubes may be involved also
DDx:
• labial adhesion :This rarely occurs at birth. Its as a
result of vulva inflammation. The adherent labia hides
the introitus and urethra
• vaginal agenesis
• Perineum is not distorted
• There is dimpled depression where the introitus
should be
• The hymen is marked by a rugged or corrugated fold.
• Rectal exam – thickened cord of tissue usually
palpable when vagina is present is not felt.
• Vaginogram – no hollow cavity
NOTE: place a 18 gauge hypodermic needle between the
urethra and anal opening. A catheter is placed in the
urethra and the examiners finger in the rectum guiding
the needle.
• A large vaginal cyst – bulging through the introitus
• Cyst does not have grayish white coluor.
• Small instrument can be passed on the side of the
tumuor into the vagina
ANOMALIES OF VAGINA
May result from failure of fusion of paramesonephrric ducts or
faulty growth of urogenital sinus. Most of the anomalies of
the vagina do not cause symptoms during infancy and
childhood. Diagnosis thus can easily be missed till late
adolescence.
• Double vagina – rare
May be confused with septum. In true doubling each
vagina has separate mucosa, lumbria propria and
muscular coat. Often accompanied by double vulva
urethra, bladders and two uteri
• Septate Vagina
Occurs because the lower potion of paramesonephric
ducts fail to fuse properly thus a longitudinal saggital
septum partially or completely divides the vagina.
• Often uterus is bicornuate or separate
• Cervix usually one in incomplete septum of the
vagina opening into each halve of the vagina.
DX – Can be coincidental, may have dysparunea
especially when septum lies against one side of the
vagina or one cavity is much smaller than the other
RX – Not required but information is necessary. In most
cases one side of the vagina is adequate for normal
coitus and delivery
• Transverse vaginal septum
Usually due to failure of canalization of the vaginal
plate.
DX – Due to dysperunia or coincidental gyn exam,
Cryptomenorrhea
 RX – Vaginal plastic operation to create a vaginal canal sexual characteristics
adequate for coitus, elective C\S is indicated in such
cases. • Aplasia of the uterus
True aplasia is rare
• Vaginal Hypoplasia In most cases accompanied by aplasia of the uterine
Usually associated to other urogenital anomalies opens in tubes. Vagina agenesis is always present in true uterine
the perineum, cloaca – like urogenital sinus or in the aplasia.
urethra.

• Vagina Atresia
Complete or partial failure of canalization of vaginal
plate.
DX made on infant exam at birth or if the uterus has fully
formed when menstruation begins, they have symptoms
like those of imperforate hymen.
RX; surgical approach both via the abdominal and vagina
routes
• Vagina Agenesis
Failure of proliferation of uterovaginal plate
Atresia of the vaginal plate.
DX; at birth on examination – no vaginal opening. In
most cases there is concomitant aplasia of upper part of
the paramesonephric ducts, thus the uterus and uterine
tubes are rudimentary.
The ovaries are normal (different origin)
DDX
• Imperforate hymen
• Labial adhehesion
• Large vaginal cyst
• Intersex anamalies
RX – In absence of the uterus objective is to create
functionally satisfactory coital canal.
• Congenital vaginal cysts
Usually develop from occluded persistent fragments of
the mesonephric ducts; from unfused portions of the
paramesonephric ducts or obstructed paraurethral ducts.
RX – For big ones excision but note injury to urethra
bladder, ureter or bowel may occur
• Failure of Paramesonephric duct Fusion
§ Bicornuate uterus
§ Arcuate uterus
§ Partially septate uterus
§ Unicormate uterus with rudimentary horn
§ Septate uterus with single cervix
§ Unicornuate uterus
§ Complete septate uterus
ANOMALIES OF THE UTERINE TUBES
• Important in terms of fertility purposes.
• Small supernumerary or accessory tubes attached to the
fabriated ends or communicating with the isthumus or
ampulla portions.
OVARIAN ANOMALIES
• Failure of normal ovarian descent – remains in the fetal
position above the pelvic inlet.
• Ovarian Aplasia rare
DDX – Undescended testis in a male, gonads are inguinal
or external genitalia
Torsion, necrosis and resorption rather that of aplasia.
May occur
• Accessory Ovaries
Forms a third ovary, lie along the path of ovarian
descent.
Accessory ovarian tissue may exist extraperitoneally.

UTERINE ANOMALIES
• Ovarian Hypoplasia
Rarely present in childhood. Most of the problem they create
Ovary poorly developed due to:
is infertility or complications of pregnancy and labour.
• Intersex problem
• Rudimentary gonad (turmers)
• Cervical stenosis – rare • General endocrine disturbances

• Atresia of the cervix – Due to failure of development and • Ovarian Agenesis

canalization of the cervical portion of the fused
paramesonephric ducts. Its rare . When menstruation
begins may cause hematometra

• Hypoplasia of the uterus

Lesser degrees are of no consequence
Severe hypoplasia – uterus is small cord of tissue, usually
without a cavity.
Causes 1o amenorrhea but the ovaries may be normal
functionary – well developed , thus normal female