Female Genital Organ Anomalies
Female Genital Organ Anomalies
Female Genital Organ Anomalies
ANOMALIES
Bitew .A
02/20/24 1
Introduction
Developmental anomalies of the reproductive system represent
some of the most fascinating disorders that obstetricians and
gynaecologists 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.
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TERMINOLOGY
Hematometria -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.
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Embryology and Development
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. 4
UROGENITA
L SYSTEM
VESICO DEFINITIVE
URETHRAL UROGENITAL SINUS
CANAL
has
PRIMITIVE VAGINAL
URINARY PLATE
URETHRA
BLADDER
FEMALE URETHRA
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Indifferent Embryo
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Female Genital Duct Systems
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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
mesonephric ducts lying laterally, a
collection of paramesonephric cells forms
constituting the Mullerian tubercle.
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Female Genital Duct Formation
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Embryology of Vagina
Derived paramesonephric ducts vs. mesonephric ducts vs.
urogenital sinus, or a combination.
Most accepted, superior part derived from
paramesonephric , while inferior part arises
from urogenital sinus.
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 02/20/24 16
Ctd
• 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.
• 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 urge
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Inductor role of mesonephric duct on
vagina
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Theory of Mullerian Tubercle
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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. 02/20/24 20
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.
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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)
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Development of external genitalia
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AMERICAN FERTILITY SOCIETY CLASSIFICATION
OF Uterovaginal ABNORMALITIES
CLASS 1
DYSGENESIS OF MULLERIAN DUCTS
CLASS 2
DISORDERS OF VERTICAL FUSION OF THE MULLERIAN
DUCTS
A) Asymmetric
1. Unicornuate uterus with a non communicating rudimentary anlage or
horn
2. Unilateral obstruction of a cavity of a double uterus
3. Unilateral vaginal obstruction associated with a double uterus
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ctd
B) Symmetric unobstructed
1. Didelphis uterus
Complete longitudinal vaginal septum
Partial longitudinal vaginal septum
No longitudinal vaginal septum
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ctd
a)Complete
• Complete longitudinal vaginal septum
• Partial longitudinal vaginal septum
• No longitudinal vaginal septum
b) Partial
• Complete longitudinal vaginal septum
• Partial longitudinal vaginal septum
• No longitudinal vaginal septum
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ctd
2) BICORNUATE UTERUS
A) Complete
• Complete longitudinal vaginal septum
• Partial longitudinal vaginal septum
• No longitudinal vaginal septum
b) Partial
• Complete longitudinal vaginal septum
• Partial longitudinal vaginal septum
• No longitudinal vaginal septum
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…
4)T-SHAPED UTRINE CAVITY(DES RELATED)
5)UNICORNUATE UTERUS
a) with a rudimentary horn
1.With endometrial cavity
Communicating
Non-communicating
2. Without endometrial cavity
b)without a rudimentary horn
CLASS4
UNUSUAL CONFIGURATIONS OF VERTICAL LATERAL FUSION
DEFECTS 02/20/24 31
Mullerian duct abnormalities
• 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.
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ctd
• 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. 02/20/24 33
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, as it 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 vagina02/20/24 34
Ctd
• 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.
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CONGENITAL ABSENCE OF
MULLERIAN DUCTS
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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,
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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
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VAGINAL ABNORMALITIES
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Transverse Vaginal Septum
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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
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
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ctd
In neonates and infants, obstructive transverse vaginal
septum causes fluid and mucus collection in the upper
vagina, resulting in a mass that may be large enough to
compress abdominal or pelvic organ 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. 02/20/24 47
Ctd
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.
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Longitudinal vaginal septum
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Ctd
• 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 perforated 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
cribriform or septate hymen.
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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 02/20/24 57
Lateral Fusion Defects:
obstructive and non-obstructive
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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. 02/20/24 59
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
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Lateral Fusion defects without obstruction
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UTERUS DIDELPHYS
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Uterine didelphys
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Uterus didelphys, bicollis, with complete upper vaginal
septum with bilateral obstruction
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UNICORNUATE UTERUS
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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.
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1. Unicornuate
2. Unicornuate with uterine horn (not containing an
endometrial cavity) not fused to unicornuate uterus
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1. Unicornuate with uterine horn (no endometrial cavity)
fused to unicornuate uterus
2. Unicornuate uterus with noncommunicating horn
containing endometrial cavity not fused
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Unicornuate with communicating uterine horn
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BICORNUATE UTERUS
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Septate Uterus: Partial and Complete
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Septate Uteri
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Bicornuate and Septate Uteri
Bicornuate Septate
• Fundus indented • Normal external surface, need
• Partial fusion of mullerian laparoscopy to dx
ducts • Defect in canalization or
• Variable degree of separation resorption of midline septum
of uterine horns that can be between mullerian ducts.
complete, partial or minimal
• Septum can cause infertility,
• HSG won’t dx, need recurrent midtrimester loss
laparoscopy
• Minimal reproductive • Tx: resection of septum
problems, however can have hysteroscopically or
pregnancy loss, PTL, etc. hysteroscopic metroplasty
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BICORNUATE UTERUS
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DES RELATED ABNORMALITIES
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ctd
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 02/20/24 79
Ctd
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 02/20/24 80
OTHERS 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
02/20/24septum.
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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.
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Thank you
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