1. REPRODUCTIVE TRACT
ANOMALIES
Prof. M.C.Bansal
MBBS., MS., FICOG., MICOG.
Founder Principal & Controller,
Jhalawar Medical College & Hospital Jjalawar.
MGMC & Hospital , sitapura ., Jaipur
2. Developmental anomalies of the reproductive system
represent some of the most fascinating disorders that
obstetricians and gynecologists encounter.
The mullerian ducts are the primordial anlage of the
female reproductive tract. They differentiate to form the
fallopian tubes, uterus, the uterine cervix, and the superior
aspect of the vagina.
A wide variety of malformations can occur when this
system is disrupted. They range from uterine and vaginal
agenesis to duplication of the uterus and vagina to minor
uterine cavity abnormalities.
3. TERMINOLOGY
Hematometra -The distension of the uterus with blood or
menstrual fluid.
Hematometrocolpos-The distension of the uterus and
vagina with blood or menstrual fluid; because the vaginal
wall is more distensible, the vagina will preferentially fill
before the uterus.
Hydrocolpos-The distension of the vagina with fluid; often
seen in infants with complex reproductive anomalies.
Metroplasty -Uterine reconstructive procedure.
Uterine anlagen -An underdeveloped uterine structure that
is a remnant of a single embryologic mullerian duct.
5. Indifferent Embryo
Genotype of embryo 46XX or 46XY is established
at fertilization
At 1-6 wks it is sexually indifferent or
undifferentiated stage; that is genetically female
and male embryos are phenotypically
indistinguishable
AT Week 7 begins phenotypic sexual
differentiation
Week 12 female or male characteristics of external
genitalia can be recognized
Week 20 phenotypic differentiation is complete.
6. In utero photograph of a 56-day embryo showing continued growth
of the genital tubercle and elongation of the urethral folds that have
not yet initiated fusion. The genital swellings remain indistinct.
7. UROGENITA
L SYSTEM
INTERMEDIATE PRIMITIVE UROGENITAL SINUS
MESODERM
VESICO DEFINITIVE
URETHRAL UROGENITAL SINUS
CANAL
has
CRANIAL CAUDAL PELVIC PHALLIC
PART PART PART PART
PRIMITIVE VAGINAL
URINARY PLATE
URETHRA
BLADDER
FEMALE URETHRA
8. Indifferent Embryo
Components which form the adult female
and male reproductive systems are:
1. Gonads ovaries or testes
2. Genital Duct Systems
Paramesonephric and Mesonephric Ducts
3. External Genitalia
10. After the folding of the embryonic disc and the
formation of the peritoneal cavity,the intermediate
mesoderm forms a bulging on the posterior
abdominal wall,lateral to the attachment of the
dorsal mesentry of the gut .
This bulging is now called the NEPHROGENIC
CORD.
Its surface is covered by the epithelium
lining the peritoneal cavity-COELOMIC
EPITHELIUM
11. Genital Duct Development
After about 37 days of
fertilization, two pairs of
genital ducts appear
Mesonephric Duct extending
from the mesonephros to the
cloaca (urogenital sinus)
referred to as the Wolffian
system
Second duct arises as a
longitudinal invagination of
coelomic epithelium on the
anterolateral surface of the
urogenital ridge, known as
Paramesonephric or
Mullerian Duct.
12. Paramesonephric Duct
Cranial uterine tubes
Caudal portions fuse and
form the uterovaginal
primordium and bring
together two peritoneal
folds, the broad ligament.
Initially they remain
separated by a septum but
later they fuse to form the
uterus.
13. Paramesonephric Duct
Paramesonephric ducts do not
make contact with the urogenital
sinus.
Paramesonephric ducts fuse with
the medial wall of the
mesonephric ducts.
Below the caudal tip of the
uterine primordium and above the
dorsal wall of the urogenital
sinus, with the mesoneprhic ducts
lying laterally, a collection of
paramesonephric cells forms
constituting the Mullerian
tubercle.
14.
15.
16.
17. Female Genital Duct Formation
In ovary the absence
of testosterone
inhibits the
development of the
mesonephric ducts.
The atretic remains
form the epoophoron,
paraoophoron and
Gartner’s ducts.
In absence of AMH,
paramesonephric
ducts form the female
internal genital tract.
18. A-Genital ducts in the female at the end of the second month.
B. Genital ducts after descent of the ovary. The only parts
remaining from the mesonephric system are the epoophoron,
paroophoron, and Gartner's cyst
19. Embryology of Vagina
Embryology controversial
Derived paramesonephric ducts vs. mesonephric
ducts vs. urogenital sinus, or a combination.
Most accepted, superior part derived fusion
paramesonephric , while inferior part arises from
urogenital sinus.
20. The lower part of the utero-vaginal canal
comes in close contact with the dorsal wall
of the phallic part of the urogenital sinus
The utero-vaginal canal and the urogenital
sinus are soon separated from each other by
the formation of a solid plate of cells called
the VAGINAL PLATE
21. The endodermal cells of the urogenital sinus
proliferate to form 2 swellings called sino-
vaginal bulbs
These bulbs soon fuse to form 1 mass
Most of the vaginal plate is formed from
these sino-vaginal bulbs
The part of the vaginal plate near the future
cervix is derived from mesodermal cells of
the utero-vaginal canal.
22. The vagina is formed by the development of
a lumen within the vaginal plate
The hymen is situated at the junction of the
lower end of the vaginal plate with the
uroge
23. A-uterovaginal canal (mesoderm)in contact with lining of
UGS(endoderm) B-sino-vaginal bulbs are formed by proliferation
of endodermal lining C-solid vaginal plate partly derived from
endoderm of sinovaginal bulbs D-vagina formed by canalization of
vaginal plate
24. Inductor role of mesoneprhic duct on
vagina
sinovaginal bulbs are
caudal segments of
mesonephric ducts.
Between these bulbs and
caudally to the
paramesonephric ducts, a
solid epithelial structure is
located contacting the
dorsal wall of the
urogenital sinus…the
mullerian tubercle.
25. Theory of Mullerian Tubercle.
Mullerian tubercle
-cellular condensation b/w
inferior part of fused
paramesonephric ducts
and urogenital sinus.
Sinovaginal bulbs
develop, constitute vaginal
plate.
Cavity formed is lined
with paramesonephric
epithelium, opens into the
urogenital sinus
26. Formation of the uterus and vagina. A. 9 weeks. Note the
disappearance of the uterine septum. B. At the end of the third
month. Note the tissue of the sinovaginal bulbs. C. Newborn. The
fornices and the upper portion of the vagina are formed by
vacuolization of the paramesonephric tissue, and the lower portion
of the vagina is formed by vacuolization of the sinovaginal bulbs.
27. Mesonephric duct induction
Vagina derived from fused mesonephric
ducts and Mullerian tubercle.
Paramesonephric ducts form uterus to
external cervical os and adequate formation
is induced by mesonephric ducts.
Mesonephric ducts regress cranially but at
cervical os, they enlarge and form the
sinovaginal bulbs.
The paramesonephric cellular condensation
(mullerian tubercle ) incorporates itself in
the vaginal plate formed by fusion of the
two bulbs.
Cavitation allows the paramesonephric cells
to line the primitive vaginal cavity with
paramesonephric epithelium.
28. Agenesis of mesonephric duct
As ureteral bud sprouts
from the opening of the
mesonephric ducts in the
urogenital sinus, the
absence or distal agenesis
of a mesonephric duct
would result in an absence
of its opening to the sinus
( the origin of the blind
vagina) and in an absence
of the ureteral bud on that
side. Thus, the definitive
kidney would fail to
develop (ipsilateral renal
agenesis)
30. Development external genitalia
Early, similar in both sexes
6th wk, three external protuberance surround cloacal
membrane, the left and right genital swellings meet
anteriorly to form the genital tubercle.
12th wk identify difference.
Genital swelling labioscrotal folds
scrotum or labia major
Genital tubercle phallus penis or clitoris
31. Development of External Genitalia
Anlage Male Female
Genital Tubercle Glans and shaft Glans and shaft of
of penis clitoris
Urogenital Sinus Penile urethra Vestibule of vagina
Urethral fold Penis Labia Minora
Labioscrotal fold Scrotum Labia Major
34. AMERICAN FERTILITY SOCIETY
CLASSIFICATION OF UTEROVAGINAL
ABNORMALITIES
CLASS 1
DYSGENESIS OF MULLERIAN DUCTS
CLASS 2
DISORDERS OF VERTICAL FUSION OF THE
MULLERIAN DUCTS
A) assymetric obstructed disorder of uterus or
vagina,usually associated with ipsilateral renal agenesis
1-unicornuate uterus with a non communicating
rudimentary anlage or horn
35. 2-unilateral obstruction of a cavity of a double uterus
3-unilateral vaginal obstruction associated with a double
uterus
B) symmetric unobstructed
1-didelphic uterus
a)complete longitudinal vaginal septum
b) partial longitudinal vaginal septum
c) no longitudinal vaginal septum
40. Abnormalities in the formation or fusion of the mullerian
ducts results in a variety of anomalies of the uterus and
vagina:
single, multiple, combined, or separate.
Failure of development of a mullerian duct is associated
with failure of development of a ureteric bud from the
caudal end of the wolffian duct.
Thus, the entire kidney can be absent on the side ipsilateral
to the agenesis of a mullerian duct.
41. Depending on the timing of the teratogenic influence, renal
units can be absent, fused, or in unusual locations in the
pelvis.
Ureters can be duplicated or can open in unusual places,
such as the vagina or uterus
polygenic or multifactorial inheritance.
Hox-9, 10, 11, 13 are expressed along the length of
mullerian ducts. Alteration of HOX genes may give rise to
mullerian anomalies
involvement of the Y chromosome in the pathogenesis of
müllerian anomalies has not been considered.
42. Disorders of Ineffective Suppression of
Mullerian Ducts
Ambiguous external genitalia frequently are accompanied
by a small rudimentary uterus or a partially developed
vagina.
Additionally, when there is a genetic loss of cytoplasmic
receptor proteins within androgenic target cells, such as
occurs in the androgen insensitivity syndrome (formerly
called testicular feminization syndrome), the vagina is
incompletely developed because the existing male gonads
suppress the development of the mullerian ducts.
genetically male patients ,BUT seen clinically as
phenotypic XY females without a completely formed
vagina
43. OTHER EXAMPLES
Congenital rectovaginal fistula, imperforate
(covered) anus, hypospadias, and other
anatomic variants of cloacal dysgenesis
These anomalies can be associated with
maldevelopment of the mullerian and
mesonephric duct derivatives.
44. CONGENITAL ABSENCE OF
MULLERIAN DUCTS
include congenital absence of the vagina and uterus.
referred as congenital absence of the vagina (vaginal
agenesis)
accurately labeled aplasia (or dysplasia) of the mullerian
ducts because the lower vagina generally is normal, but the
middle and upper two thirds are missing.
uterus absent
rudimentary uterine primordia are present
Tubes and ovaries are generally are normal.
45. CHARESTICS OF WOMEN WITH
MULLERIAN AGENESIS
Congenital absence of the uterus and vagina (small
rudimentary uterine bulbs are usually present with
rudimentary fallopian tubes)
Normal ovarian function, including ovulation
Sex of rearing: female
Phenotypic sex: female (normal development of breasts,
body proportions, hair distribution, and external genitalia)
Genetic sex: female (46,XX karyotype)
Frequent association of other congenital anomalies
(skeletal, urologic, and especially renal)
46. Mayer-Rokitansky-Kuster-Hauser
Syndrome (utero-vaginal agenesis)
15% of primary
amenorrhea
Normal secondary
development & external
female genitalia
Normal female range
testosterone level
Absent uterus and upper
vagina & normal ovaries
Karyotype 46-XX
15-30% renal, skeletal and
middle ear anomalies
47. First seen by a gynecologist at age 14 to 15 years, when the
absence of menses causes concern.
- Have a normal complement of chromosomes (46,XX)
- Usually have normal ovaries and secondary sex
characteristics, including external genitalia.
- Menstruation does not appear at the usual age because the
uterus is absent, but ovulation occurs regularly.
- There are some exceptions to the rule of normal ovaries.
For example, polycystic ovaries and gonadal dysgenesis
have been reported in patients with congenital absence of
the vagina.
- Additionally, nested polymerase chain reaction
demonstrated the presence of testis-specific protein 1-Y-
linked (TSPY) gene in two women
48. Associated Urologic and
Renal Anomalies
Incidence-47%
includes unilateral renal agenesis, unilateral
or bilateral pelvic kidney, horseshoe kidney,
hydronephrosis, hydroureter, and a variety
of patterns of ureteral duplication.
49. Associated Skeletal and Other
Anomalies
spine (wedge vertebrae, fusions, rudimentary vertebral
bodies, and supernumerary vertebrae),
the limbs and ribs also can be involved.
Other anomalies include syndactyly, absence of a digit,
congenital heart disease, and inguinal hernias,
50. Vertical Fusion Defects:
obstructive and non-obstructive
Incomplete cavitation of the vaginal plate
formed by the down-growing mullerian
ducts and the up-growing urogenital sinus.
Can be considered in two categories:
1.Imperforate Hymen
2.Transverse Vaginal Septum
51. VAGINAL ABNORMALITIES
Developmental abnormalities of the normal
single vagina include:
Vaginal agenesis
Vaginal atresia
Double vagina
Longitudinal vaginal septum
Transverse vaginal septum
54. TRANSVERSE VAGINAL SEPTUM
Vertical fusion - complete cavitation of the vaginal plate between the
sinovaginal bulbs and uterovaginal canal.
Transverse vaginal septum may be caused by a failure of this process
incidence of 1 in 70,000 females.
The septum may be obstructive, with accumulation of mucus or
menstrual blood, or may be non-obstructive, allowing for flow of
mucus and blood.
Transverse vaginal septum can develop at any level within the vagina
but is more common in the upper portion, that is, at the junction
between the sinovaginal plate and the caudal end of the fused
müllerian ducts
46 percent of septa were located in the upper vagina, 35 percent in the
middle, and 19 percent in the lower portion of the vagina.
The thickness of the septum may be variable, and thicker septa tend to
be located nearer the cervix. Typically, a septum is thin (average
thickness of 1 cm
55. In neonates and infants, obstructive transverse vaginal septum causes
fluid and mucus collection in the upper vagina, resulting in a mass that
that may be large enough to compress abdominal or pelvic organs
limit diaphragmatic movement, and neonatal deaths have been
reported.
pyomucocolopos, pyometria, and pyosalpinges may develop
. In contrast to other defects of the mullerian ducts, transverse vaginal
septum is fortunately associated with few urologic abnormalities.
56. Patients with obstructive transverse vaginal septum usually
present during adolescence with
cyclic lower abdominal pain
Amenorrhea
gradual development of a central pelvic mass.
Patients with nonobstructive transverse vaginal septum
typically complain of abnormal menstrual flow
pain with intercourse,
difficulty in placing or removing tampons
obstructed labor.
57. Longitudinal vaginal septum
Results from defective lateral fusion and incomplete
reabsorption of the paired müllerian ducts.
These septa are generally seen with partial or complete
duplication of the cervix and uterus.
Pt complain of difficulty with intercourse or with
complaints of vaginal bleeding
In an obstructive variety of longitudinal vaginal septum
-patient presents in adolescence with normal menarche, but
reports worsening monthly unilateral vaginal and pelvic
pain .
On examination, a patent vagina and cervix is noted, but a
unilateral vaginal and pelvic mass can be seen. The mass
represents obstruction of one of the hemivaginas
associated with uterine duplication.
58.
59. Vaginal Agenesis
Females with vaginal atresia lack the lower portion of the
vagina, but otherwise have normal external genitalia.
The embryonic origin of this condition is presumed to
involve failure of the urogenital sinus to contribute its
expected caudal portion of the vagina .
As a result, the lower portion of the vagina, usually one
fifth to one third of the total length, is replaced by 2 to 3
cm of fibrous tissue.
In some individuals, vaginal atresia may extend to near
the cervix.
60. condition doesn’t becomes apparent until the time of
expected menarche.
cyclic pelvic pain due to hematocolpos or hematometra.
On physical examination, normal breast and pubic hair
development is present.
The perineum is usually normal, with normal secondary
sex characteristics with a hymeneal ring and beyond the
ring, a vaginal dimple or small pouch.
A rectoabdominal examination confirms the presence of
midline structures
61. sonographic or MR imaging will display upper
reproductive tract organs.
MR imaging is a more accurate diagnostic tool, as the
length of the atresia, the amount of upper vaginal
dilatation, and the presence or absence of a cervix can be
identified.
Laparoscopy, is necessary for diagnosis when the
anatomy cannot be fully evaluated with radiographic
studies.
62. OBSTETRICAL SIGNIFICANCE OF
VAGINAL ABNORMALITIES
Complete mullerian agenesis – pregnancy is impossible
because uterus and vagina is absent
About one third of women with vaginal atresia have
associated urological abnormalities
Complete vaginal atresia – precludes pregnancy by
vaginal intercourse unless corrected operatively
In most cases of partial atresia, because of pregnancy-
induced tissue softening, obstruction during labor is
gradually overcome.
64. By the 12th week, the paramesonephric ducts and/or upper
vagina joins with the vaginal plate, which canalizes
beginning caudally and creates the lower vagina.
By the fifth month of gestation, the canalization of the
vagina is complete.
The hymen is formed from the proliferation of the
sinovaginal bulbs, becoming perforate before or shortly
after birth.
An imperforate hymen results when this "sheet" of tissue
fails to completely canalize.
Varying degrees of perforation result in findings such as a
cribiform or septate hymen.
65. Imperforate Hymen: Diagnosis/
Treatment
Classic appearance of bulging,
blue-domed, translucent
membrane
Cyclic pelvic pain due to
hematocolpos hematometria, or
hematosalpinx
Bulging hymeneal membrane or a
blind-ending pouch on exam.
Pelvic/Rectal exam, U/S, MRI
Rarely urologic anomalies.
Tx: Cruciate incision
67. Lateral Fusion Defects
Most common type of mullerian defects
The resulting organs are either asymmetric or
symmetric and obstructed or nonobstructed.
Result from failure of formation of one mullerian
duct, migration of a duct, fusion of the mullerian
ducts, or absorption of the intervening septum.
Defective resorption of the septum between the
fused mullerian ducts results in a uterine septum,
which may extend either partially down the uterus
or the full length to the cervix. This is the most
common uterine defect.
68. Obstructive Defect of Lateral Fusion:
Failure of lateral fusion of two mullerian ducts
and failure of one duct to communicate with the
outside, thus unilateral obstruction. Uterus
didelphys with obstructed hemivagina with
ipsilateral renal agenesis
69. Obstructed Lateral Fusion:
Presentation
Dysmenorrhea, abd pain,
vaginal masses, intermittent
foul odor, mucopurulent
discharge, endometriosis
IVP generally shows renal
agenesis on obstructed side.
diagnosis is difficult: U/S,
HSG, MRI
treatment: excision of septum
or excise obstructed uterine
horn to prevent endometriosis
or pregnancy in rudimentary
horn
72. Uterine didelphys
Two mullerian ducts fail Generally have good
to fuse, thus duplication of reproductive
system.
outcomes.
Generally limited to uterus
A septated vagina may
and cervix (uterine
didelphys and bicollis occur in 75% of cases
(two cervices), although and may cause
duplication of vulva, difficulty with
bladder, urethra, vagina intercourse or vaginal
and anus may also occur
delivery.
73. This anomaly is distinguished from bicornuate and septate
uteri by the presence of complete nonfusion of the cervix
and hemiuterine cavity
Except for ectopic and rudimentary horn pregnancies,
problems associated with uterine didelphys are similar but
less frequent than those seen with unicornuate uterus
Complications may include
- preterm delivery (20%)
- fetal growth restriction (10%)
- breech presentation (43%)
- cesarean delivery rate (82%)
74. Uterine didelphys with complete
vaginal septum
Resection of septum:
metroplasty or
hysteroscopic
resection of septum
Obstructed
hemivagina and
ipsilateral renal
agenesis will have
regular menses, but
pain.
80. Unicornuate Uterus
Reproductive potential is essentially normal
high risk for infertility, endometriosis,
Risk for spontaneous abortions,Pre term labour, IUFD,breech presentations
No septum, no intervention.
Asymmetric lateral fusion defect.
One cavity normal with fallopian tube and cervix, while the failed mullerian
duct has various configurations.
Affected mullerian duct may not develop or develop partially as horn or an
anlager. It may or may not communicate.
Most rudimentary horns are asymptomatic, others contain functional
endometrium that is shed cyclically. If the rudimentary horn is obstructed
(without communication to the other uterus or cervix), the women may develop
cyclic pain and may require surgical excision of the obstructed horn.
DX: HSG, IVP, U/S, MRI,
no treatment.
81. 1. Unicornuate 2. Unicornuate with uterine horn (not
containing an endometrial cavity) not fused to
unicornuate uterus
82. 1. Unicornuate with uterine horn (no endometrial cavity)
fused to unicornuate uterus 2. Unicornuate uterus with
noncommunicating horn containing endometrial cavity
not fused
89. Bicornuate and Septate Uteri
Bicornuate: Septate:
– Fundus indented – Normal external surface,
– Partial fusion of mullerian need laparoscopy to dx
ducts – Defect in canalization or
– Variable degree of resorption of midline septum
separation of uterine horns between mullerian ducts.
that can be complete, – Septum can cause infertility,
partial or minimal recurrent midtrimester loss
– HSG won’t dx, need
– Tx: resection of septum
laparoscopy
hysteroscopically or
– Minimal reproductive
problems, however can hysteroscopic metroplasty
have pregnancy loss, PTL,
etc.
90. BICORNUATE UTERUS
Marked increase in miscarriages that is likely due to the
abundant muscle tissue in the septum
Pregnancy losses in the first 20 weeks
70 percent for bicornuate
88 percent for septate uteri
There also is an increased incidence of preterm delivery,
abnormal fetal lie, and cesarean delivery.
92. DES RELATED
ABNORMALITIES
Development of rare vaginal clear cell
adenocarcinoma.
Increased risk of developing
cervical intraepithelial neoplasia
small-cell cervical carcinoma
vaginal adenosis,
non-neoplastic structural abnormalities
93. Structural Abnormalities:
transverse septa,
circumferential ridges involving the vagina and
cervix
cervical collars s
smaller uterine cavities
shortened upper uterine segments
T-shaped and irregular
oviduct abnormalities
94. Reproductive Performance
Women exposed to DES in utero in general have impaired
conception rates possibly associated with cervical
hypoplasia and atresia
Their incidences of miscarriage, ectopic pregnancy, and
preterm delivery are also increased, especially in women
with structural abnormalities
Transgenerational Anomalies
Genital tract anomalies have been described in the
offspring of women exposed to DES when they were a
fetus
96. CERVICAL ABNORMALITIES
Atresia.
The entire cervix may fail to develop.
This may be combined with incomplete development of the upper
vagina or lower uterus
Double cervix.
Each distinct cervix results from separate müllerian duct maturation.
Both septate and true double cervices are frequently associated with a
longitudinal vaginal septum.
Many septate cervices are erroneously classified as double.
Single hemicervix.
This arises from unilateral müllerian maturation.
Septate cervix.
This consists of a single muscular ring partitioned by a septum.
The septum may be confined to the cervix, or more often, it may be
the downward continuation of a uterine septum or the upward
extension of a vaginal septum.
97. VULVAR ABNORMALITIES
Atresia
Complete atresia of the vulva includes atresia of the
introitus and lower third of the vagina.
In most cases, however, atresia is incomplete and results
from adhesions or scars following injury or infection
The defect may present a considerable obstacle to vaginal
delivery, deep perineal tears may result.
Labial Fusion
Most commonly due to congenital adrenal hyperplasia.
