Abnormal development of

female genital tract

Moderators- Prof; Dr. Aye Aye Tint
AP Dr. May Thuzar Han
AP Dr. Cho Cho Myint
Supervisor- SCS Dr. Thin Thin Nwe
Roll No. 153,154 & 155
Normal development of female genital tract
• The gonadal rudiments genital ridge overlying
the embryonic kidney in the intermediate mesoderm
during the fourth week of embryonic life
• remain sexually indifferent until the seventh week
• undifferentiated gonad bipotential
• chromosomal complement of the zygote determine
to become a testis or an ovary
The phase of Gonadal Determination
Differentiate into testis or ovaries depending on the presence or
absence of the Y chromosome in the germ cells.
The differentiation of the gonads into testis depends on the presence
of sex determining region or gene (SRY) located on the short arm of
the Y chromosome

Ovarian Differentiation
Occur in the the absence of Y
chromosome and SRY protein (about the
8th week).
SRY (Sex-determining Region of the Y
chromosome)
• In the past, ovarian development was considered
default development due solely to the absence of SRY
• Recently, ovarian determining genes have also been
found

• Both male and female embryos have two pair of

genital ducts; mesonephric (wolffian) duct and
paramesonephric duct (mullerian) duct

• Male or female internal and external genitilia

respectively
Development of genital
tract- undifferentiated
stage

Development of female genital

tract
• Under the influence of oestrogen
paramesonephric duct develop into main
genital duct of the female

• Each duct has three portions

1. Cranial vertical portion opens into abdominal cavity

2. Horizontal part crosses the mesonephric duct

3. Caudal vertical part fuses with its partner from

opposite side
• First two parts develop into uterine tube

• Caudal parts fuse to form uterine canal

• The fused paramesonephric duct give rise to

corpus and cervix of uterus

• Vagina develop from proliferation and

canalization of sinovagina bulbs

• External genitalia develop from cloaca folds

Mullerian and Wolffian system
• Cranial to cloaca membrane , the folds unite to
form genital tubercle

• Caudally, the folds are subdivided into uretheral

folds anteriorly and anal folds posteriorly

• Genital swelling visible on each side of uretheral

folds

• These swelling later enlarge and develop into

labia majora in female
• Genital tubercle elongates only slightly and
forms clitoris

• Uretheral folds do no fuse but develop into labia

minora
Development of external genitalia
Abnormal Development of Female
Genital Tract

 About 10% of infants are born with some

abnormality of the urogenital system

 Anomalies in one system are often mirrored by

anomalies in another system

 Gross malformation of uterus and vagina are

commonly associated with congenital anomalies of
the kidney and ureter
 The development of the gonad is separate from that
of the ducts

 Normal and functional ovaries are usually present

when the vagina, uterus and fallopian tubes are
absent or malformed

 Absence of uterus and vagina may be associated

with anomalies in the sex chromosome make up of
the individual

 Less severe malformations such as bicornuate

uterus cane be genetically determined and passed
from mother to daughter
Müllerian Anomalies
Müllerian anomalies
• Incidence – common occurring in up to 6% of female population
• May be asymptomatic
• Unknown aetiology
• Associated with renal anomalies up to 30 %
Classicfication of Müllerian anomalies in
Europe.
Class U6/unclassified uterus
Coexist classes
C0 Normal cervix
C1 Septate cervix
C2 Double ‘normal’ cervix
C3 Unilateral cervical aplasia
C4 Cervical aplasia

V0 Normal vagina
V1 Longitudinal non obstructing vaginal septum
V2 Longitudinal obstructing vaginal septum
V3 Transverse vaginal septum
V4 Vaginal aplasia
American Fertility
Association
Class I Segmental or complete agenesis or hypoplasia
Agenesis and hypoplasia may involve the vagina, cervix, fundus, tubes
or any combination of these structures Mayer-structures. Mayer-
Rokitansky-Kuster-Hauser (MRKH)syndrome is the most common
example.
Class II Unicornuate uterus with or without rudimentary horn
Two types,
Communicating
Non-communicating
Endometrial cavity is present or not in rudimentary horn
Class III Didelphys uterus
Complete or partial duplication of vagina, cervix and
uterus

Class IV Complete or partial bicornuate uterus

Complete bicornate uterus is characterized by a uterine
septum that extends from the fundus to cervical os.
Partial bicornuate uterus which is located at the fundus.
In both vagina and cervix have single chamber
Class V Complete or partial septate uterus
A complete or partial midlie septum is present within
a single uterus

Class VI Arcuate uterus

A small septate indentation is present at the fundus

Class VII DES-related abnormalities

A T-shaped uterine cavity with or without dilated
horns is evident.
Clinical presentation
Symptoms
Depend on underlying cause
• Dysmenorrhoea, pain is limited to the site on which the horn is present
• Lower fertility
• Abortion
• Premature labour
• Malpresentation
• Fundal insertion of placenta
Investigation
Ultrasound
Can detect the underlying type of pathology
• absence of uterus
• demonstrates ovaries
• rudimentary uterine horns
• etc
MRI
• ideal method for demonstrating uterine malformation
Laparoscopy
Chromosomal analysis
Treatment for Class I

Modified Mcindoe procedure inclued

• Split-thickness grafthing
• Creation of the vaginal space
• Prosthesis assembly
• Graft attachment to a prosthesis
Treatment for Class II
• No treatment for true unicornuate uterus
• Excision of rudimentary horn if there is symptomatic
Treatment for Class III and other types
• Depends on exact state and symptoms produced
• Vagina septa are generally removed
• Rudimentary uterine horn require excision
• Surgery for bicornuate or septate uterus when more than three
misscarriage and no pregnancy with viable child
Müllerian duplication

• Duplication of Müllerian system

• It may be complete duplication of the uterus, cervix and
vagina
• It may be simply a midline uterine septum otherwise normal
internal genitalia
• Second uterine horns can be rudimentary or functional.
Müllerian agenesis

• Mullerian system does not develop resulting in an

absent or rudimentary uterus and upper vagina known
as Rokitansky syndrome or Mayer-Rokitansky-Kuster-
Hauser syndrome (MRKH)
• Incidence – approximately 1 in 5,000 to 1 in 40,000 girl
• Unknown aetiology
• It may be due to environmental, genetic, hormonal or
receptor factor
Clinical presentation

• Primary amenorrhoea
• Infertility
• Sexual difficulty and painful
• Normal secondary sex development
Investigation
Accordingly to underlying causes
Clinically
It is usually diagnosed at puberty when adolescents with primary
amenorrhea. Normal growth and development of secondary sex
characteristics.
Pelvis examination
External genitalia are normal.
Patulous urethra
Vaginal vault completely absent or a short vaginal pouch
Smooth band crossed the pelvis represents a remnant of the
uterosacral ligament.
Per rectal examination
Uterus is not palpable in Mullerian agenesis
Hormonal profiles
Luteinizing hormone
Follicle-stimulating hormone
Estradiol and testosterone level to distinguish the MRKH
syndrome from androgen insensitivity syndrome.
USG
Type of the Mullerian anomalies
Absence of uterus and fallopian tubes in the presence of
normal ovaries in Mullerian agenesis.
Transvaginal ultrasound
Contrast enhanced CT
Treatment
• Psychological support and creation of a vagina
• Hormonal control
• Transplantation of uterus is not available.
• Women with MRKH syndrome may have their own genetic
children using ovum retrieval and assisted conception
techniques and a surrogate mother.
Müllerian obstruction

• Failure to complete canalization of the Müllerian structures

can lead to menstrual obstruction.
Common site
• At the junction of the lower third of the vagina at the level
of the hymen and more proximal obstruction can occur
Presentation with an imperforate hymen is
usually
with increasing abdominal pain in a girl in early
adolescence. The retained menstrual blood
stretches the
vagina, causing a haematocolpus. This can
cause a large pelvic mass and in addition can
usually be seen
as a bulging membrane at the vaginal
entrance. Treatment is simple with a surgical
incision of the hymen
and drainage of the retained blood.
Ovary

Malformations may affect one or both ovaries

 Absence or Underdevelopment (extremely rare)

 Accessory and Supernumerary Ovaries
 Failure of Descent - ovary may remain at the level of
the pelvic brim or even near the lower pole of the
kidney, sometimes in a hernial sac.
 Ovotestis
Accessory and Supernumerary Ovaries

 An accessory ovary on one or both sides is not

uncommon
 A single ovary is divided into two portions which are
attached to each other by fibrous tissue
 True supernumerary ovaries have been found in the broad
ligament and elsewhere ;
they probably account for menstruation continuing and
pregnancy occurring after the removal of both ovaries.
Ovotestis

• the chromosomal direction to the gonad is confused,

• development of both testicular and ovarian tissue,
• either separate or in the form of an ovotestis
• called true hermaphroditism
• Affected individuals may be phenotypically male or female
Male gynaecomastia in later life
Female often manifest virilism.
Fallopian tube
Include ;

• Absence In Whole Or Part

• Underdevelopment
• Congenital Atresia
• Excessive Length
• Duplication
• Accessory Tubes
• Diverticula
• Accessory Ostia
Uterus
Absence

• It results when the Müllerian ducts fail to develop and

associated with an error in the sex chromosome make-up

• The upper vagina is inevitably absent

• If the fallopian tubes or their fimbriated extremities

are present, they taper inwards to a transverse fold —
plica transversalis
Hypoplasia

• As a result of an error in either antenatal or postnatal

development

• Organ consists of nothing more than a small nodule of solid or

hollow functionless tissue(mistaken for absence of the uterus)

• However , uterus is normal in shape and structure but just

reduced in dimension
Cause

• An inherent error in Müllerian duct tissue, often associated

with sex chromosome abnormality- so uterus is incompletely
formed or incapable of responding to normal post natal growth
stimulus of estrogen

• Failure of the ovaries and adrenals to supply the estrogen

stimulus to a basically normal uterus at the time of puberty

• Some disease or circumstance which destroys estrogen or

nullifies its effect on the uterus
Clinical Features

•Primary Amenorrhoea
•Late Menarche
•Infrequent Menstruation
•Infertility
•Scanty menstruation (hypomenorrhoea)
(Due to smallness of the uterus prevent conception or alter the
ovarian cycle)

On examination ,

• Uterus is small in length and width

• Endometrium is thin
• Cervix is relatively long
Diagnosis

Diagnosis is made on a mere impression that the uterus feels

small on bimanual examination

Essential criteria of uterine hypoplasia are;

Subnormal menstrual cycle

Uterine cavity measurement of 6 cm or less
Endometrium which appears unstimulated on microscopy
(All must be present)
Treatment

Treat with exogenous estrogens but unsatisfactory

Reasons
1. If hypoplasia is the result of the uterus being unresponsive to
the ovaries, estrogens have no effect on it.
2. If hypoplasia is the result of an inadequate ovarian stimulus
then estrogens will promote full development of the uterus, but
the effect is temporary and, unless ovarian function becomes
normal in the meantime , the uterus returns to its former state
when treatment is suspended.
In practice , the administration of estrogen is more value at
diagnostic than therapeutic procedure

If the complaint is infertility , establishing normal ovarian function

rather than correcting the consequential uterine hypoplasia
Cochleate Uterus

• Uterus is cochleate or C-shaped when viewed from the

side
• Position of the body of the uterus is normal
• But cervix is angled forwards . So deformity arises.
• Also called acute anteflexion of the cervix
• Similar malformation in reverse called congenital retroflexion of
the uterus.
• Cervix is usually longer, narrower, and more conical than normal
Menarche is at a normal age and menstruation is free and regular.
• Therefore , a cochleate uterus should be regarded as being
maldeveloped rather than underdeveloped
• The site of the trouble being at the level of the internal os
• The deformity nearly always disappears after pregnancy.
Clinical Features
rarely gives rise to symptoms
- spasmodic dysmenorrhea (disturbed uterine polarity)
Treatment is directed to the symptoms

Acute anteflexion of the cervix

determined clinically by apposition
of the body of the uterus and of the
cervix to the sides of one finger
Conical Cervix and Pinhole os

• Often go together and the cervix as a whole tends to be long and

narrow.

Congenital Hypertrophy of Cervix

• An unusually long cervix

• Is usually symptomless
• The patient is conscious of it during straining and during
coitus(particularly if the vagina happens to be short)
Vagina
Absence
• Completely absent
• Müllerian duct portion is absent and the urogenital sinus part is
present

Clinical features
• If the uterus is present and functional , deep-seated
haematocolpos and haematocervix develop after puberty
• If the uterus is functionless , primary amenorrhoea and
dyspareunia or apareunia
Diagnosis
• During the investigation of amenorrhoea before marriage

Treatment
• If cryptomenorrhoea is present, a plastic operation can be
carried out to connect the upper vagina and uterus to the
lower vagina and introitus
• In neglected cases , hysterectomy may be necessary
Vaginal Hypoplasia
• shortness, narrowness, shallow fornices, thin and inactive
epithelium
• caused by an inherent fault in the Müllerian ducts or by absence
of the oestrogen stimulus from the ovary
• always associated with uterine hypoplasia
• Treated by estrogen therapy
Congenital Atresia and Stricture-whole vagina
represented by a solid strand of tissue
Septate and Subseptate Vagina-contains a complete or
incomplete septum which reflects a failure in breakdown of
the walls between the two ducts
Double Vagina (Duplication)-double vulva, double uterus,
double bladder and urethra, and sometimes with
supernumerary lower limbs
 Duplication of the vulva. There
Septate vagina, the septum being was a single anus and rectum but
displayed by a four-bladed speculum. two bladders, a uterus didelphys
and a “double” vagina
Transverse Vaginal septum/ imperforate
hymen
• These abnomalies are rarely recognized
clinically until puberty
• Retention of menstrual flow gives rise
to clinical features of haematocolpos.
• Features of haematocolpos
-predominantly abdominal pain
- primary amenorrhoea
-occasionally interfere with
micturition
Vulva

Absence, Gross Underdevelopment and Duplication

Hypoplasia-associated with hypoplasia of the rest of

the genital tract in states of hypo-estrogenism

Bifid Clitoris (Diphallus)-Failure of two mesodermal

bands to develop properly or to fuse
Bifid clitoris, and divarication of the labia
associated with a defect of the lower
abdominal wall, ectopia vesicae and split
pelvis
Other abnormalities
 Hypertrophy of the Clitoris
 Abnormalities of the Hymen-absent, imperforate or tough
 Atresia of the Labia Minora
 Hypertrophy of the Labia Minora
 Asymmetry of the Labia Minora