Mullerian anomalies by Dr. Meenakshi Vempalli

1. MULLERIAN ANOMALIES
Presenter : Dr.Meenakshi Vempalli
Postgraduate , Dept of OBGYN,
Mahatma Gandhi Medical College, Pondicherry.

2. CONTENTS
 Introduction
 Embryology
 Classification of mullerian anomalies
 Clinical Features
 Diagnosis
 Management
 Take home message

3. INTRODUCTION
 Maldevelopment of mullerian ducts occurs in a
variety of forms, each anomaly is distintive
 At critical stages of embryonic development , insults
(genetic mutations, epigenetic factors, developmental
arrest, abnormal hormonal exposures) congenital
anatomic disorders
 Disorders range from congenital absence of uterus &
vagina lateral or vertical fusion defects
ambiguous external genitalia.
 Urinary defects are frequent & are linked to
concurrent development of both reproductive &
urinary tracts.

4. EMBRYOLOGY
DEVELOPMENT OF GONAD:
 By 5th week after fertilisation,
gonadal ridges appear on either
side of midline.
 By 6th week, primordial germ cells
formed in the yolk sac migrate along
mesentery of hindgut into gonadal
ridges
 By 20th week, cells of coelomic
epithelium- pregranulosa cells.
Germ cells-oocytes, surrounded
by pregranulosa cells ,later by
granulosa cells to form primordial
Follicles.

5. DEVELOPMENT OF INTERNAL GENITAL
ORGANS
 At 6th week ,two pairs of genital
ducts- wolffian& mullerian
ducts are formed in dorsal
mesoderm.
 Mullerian ducts arise
laterally,run parallel to wolffian
ducts.Cephalic ends open into
coelomic cavity , caudal ends
meet & fuse with fellow of
opposite side.
 Open cephalic part- Fallopian
tubes,fused lower part-
uterus&cervix.
 Intervening septum disappears
later, fused lower part enters
urogenital sinus by 9weeks of

7. DEVELOPMENT OF VAGINA
 Mullerian tubercle forms at
the caudal end of the
fused mullerian duct where
it joins urogenital sinus.
 Two sinovaginal bulbs
arise from urogenital sinus
to meet mullerian
tubercles
 Vagina is formed by
canalisation of both these
structures.
 Junction of sinovaginal
bulbs with urogenital sinus
is marked by hymen.

8. DEVELOPMENT OF EXTERNAL GENITALIA

9. TWO MAIN PRINCIPLES GOVERNING PRACTICAL APPROACH
TO MULLERIAN ANOMALIES
1)Internal genital organs develop in close association with
urinary tract, so gross malformation of uterus&tube are
commonly associated with anomalies of kidney & ureter.
2)Development of gonads is separate from that of the
ducts, hence functional ovary are usually present when
uterus,vagina are absent.
 Weeks 1-6 : Sexually indifferent or undifferentiated stage
 Week 7 : Begins phenotypic sexual differentiation
 Week 12 : Female / male characteristics of external
genitalia can be recognised.

10. EMBRYONIC UROGENITAL STRUCTURES
& THEIR ADULT HOMOLOGUES
INDIFFERENT STRUCTURE FEMALE
Genital Ridge Ovary
Primordial Germ Cells Ova
Sex Cords Granulosa Cells
Gubernaculum Uteroovarian & Round ligaments
Mesonephric tubules Epoophoron , paroophoron
Mesonephric ducts Gartner duct
Paramesonephric ducts Uterus, Fallopian tubes, Upper Vagina
Urogenital Sinus Bladder, urethra,vagina,paraurethral
glands,Greater(Bartholin)&lesser vestibular
glands
Genital tubercle Clitoris
Urogenital folds Labia minora
Labioscrotal Swellings Labia majora

11. CLASSIFICATION
 Most commonly used system proposed by Buttram &
Gibbons(1979) & adapted by American Society for
Reproductive Medicine(1988).

13. AFS CLASSIFICATION OF UTEROVAGINAL
ANOMALIES
 Class I- Dysgenesis of mullerian ducts
 Class II-Disorders of vertical fusion of mullerian ducts
A. Transverse vaginal septum
1.Obstructed
2.Unobstructed
B. Cervical agenesis or dysgenesis
 Class III- Disorders of lateral fusion of mullerian ducts
A. Asymmetric-obstructed disorder of uterus or vagina
usually associated with ipsilateral renal agenesis
1.Unicornuate uterus with non communicating
rudimentary anlage or horn
2.U/L obstruction of a cavity of a double uterus
3.U/L vaginal obstruction associated with double uterus

14.  B.Symmetric –Unobstructed
1.Didelphic uterus
a) Complete longitudinal vaginal septum
b)Partial longitudinal vaginal septum
c)No longitudinal vaginal septum
2.Septate uterus
a)Complete
1) Complete longitudinal vaginal septum
2)Partial longitudinal vaginal septum
3)No longitudinal vaginal septum
b)Partial
1) Complete longitudinal vaginal septum
2)Partial longitudinal vaginal septum
3)No longitudinal vaginal septum

15. 3.Bicornuate uterus
a)Complete
1) Complete longitudinal vaginal septum
2)Partial longitudinal vaginal septum
3)No longitudinal vaginal septum
b)Partial
1) Complete longitudinal vaginal septum
2)Partial longitudinal vaginal septum
3)No longitudinal vaginal septum
4.T-shaped uterine cavity (DES related)
5.Unicornuate uterus
a)With rudimentary horn
i)With endometrial cavity – communicating
/noncommunicating
ii)Without endometrial cavity

16.  Class IV- Unusual configurations of vertical-lateral
fusion defects.

18.  Complete formation & differentiation of mullerian
duct into female reproductive system depends on
completion of 3 phases of development.
1. Organogenesis
2. Fusion
3. Septal resorption

19.  Organogenesis –Formation of both mullerian ducts.
Failure – Uterine agenesis/hypoplasia or Unicornuate
uterus
 Fusion
Lateral Fusion –Fusion of lower segment of paired
mullerian ducts .
Failure -Uterine didelphys or Bicornuate uterus , Arcuate
uterus
Vertical Fusion – Fusion of ascending sinovaginal bulb with
descending mullerian duct.
Failure – Transverse vaginal septum or Imperforate hymen
 Septal Resorption – Subsequent resorption of central
septum once ducts have fused.

22. INCIDENCE
7%-10% of all women.
 Fertile & Infertile women – 3-4%
 Women with recurrent miscarriages – 5-10%
 Women with late miscarriages & preterm deliveries-
>25%
Varies widely because of:
Non standardisation of classification system
Non- uniform diagnostic modalities
Different study population

23.  Distribution of Specific Anomalies:
Septate uterus – 35%
Bicornuate uterus – 26%
Arcuate uterus –18%
Unicornuate uterus -10%
Uterus Didelphys -8%

24. IMPERFORATE HYMEN
 Failure of inferior end of the vaginal
plate to canalise.
 1 in 1000 to 2000 females.
 Hydro/Mucocolpos- In neonatal
period , mucus is secreted
secondary to maternal estradiol
stimulation.Secretion either from
desquamated vaginal epithelium or
cervical glands.
 Bulging translucent yellow gray mass
at vaginal introitus+
 Most cases asymptomatic, mucus
reabsorbed & estrogen levels
decline.
 Large hydro/mucocolpos –
respiratory distress, obstruct ureters

25.  A girl aged between 14-16years , periodic lower abdominal
pain , primary amenorrhoea , urinary symptoms( retention
due to elongation of urethra)
 P/A- suprapubic mass
 Vulval inspection -the trapped menstrual blood behind the
hymen creates a bluish bulge at the
introitus.(cryptomenorrhoea)
 P/R-bulged vagina
 USG:
 Hematocolpos,
 hematometra &
 hematosalpinx .

27. TREATMENT
 Cruciate incision 2’ -8’o clock and 10’-4’o clock,
Drainage over 3-5 days.
Avoid excision of hymen close to vaginal mucosa
 In case of hemato-metra - intra uterine
instrumentation is avoided and followed after 2-3wks
 If hymen integrity needed- single vertical incision with
oblique suturing with foley and topical oestrogen for
2wks.
 Aspiration to be avoided.

28. TRANSVERSE VAGINAL SEPTUM
 Non canalisation at the junction between
mullerian and sinovaginal bulbs.
 Develop at upper vagina-46%,mid
vagina-40%,Inferior vagina-14%
 Septal thickness may vary. Typically thin
(1cm) ,thicker septa measures 5-6cm.
 In neonates & infants, obstructive
transverse vaginal septum is associated
with fluid & mucus in upper vagina.
 Clinical features: Depends on whether
septum is complete or incomplete -
Primary amenorrhoea, cyclical pelvic
pain

29. P/A- Palpable central lower abdominal or
pelvic mass
 Secondary to hematometra ,
hematocolpos , hematosalpinx.
 Incomplete transverse vaginal septum
allows menstrual flow to escape
periodically but hematometra ,
hematocolpos can develop later
 Needle insertion for diagnostic purpose
must be restricted to avoid risk of
converting hematocolpos into pyocolpos.
 Chronic retrograde menstruation results
in pelvic endometriosis & adhesions
which can be severe.

30. Imaging: USG is the initial
study .
MRI prior to surgery –for
septal thickness & depth,
identify whether cervix is
present & allow
differentiation between high
vaginal septum & cervical
agenesis.
Treatment :
Excision of septum
Anastomosis of upper and
lower vagina
Silastic dilators until healing.

31. JEFFERCOTS PULL VAGINOPLASTY

32. High transverse septum
with large atresia of
vagina:
* uterus probed by
laparotomy
* level of septum
identified and safely
excised
.
High transverse septum
with small
hematocolpos:
* vaginal depth
increased by dilators and
then resection
* dilation prevents

34. SEGMENTAL MULLERIAN HYPOPLASIA OR
AGENESIS
VAGINAL ATRESIA
 Lack lower portion of vagina.
 Normal pubertal maturation & external genitalia
 Embryologically , urogenital sinus fails to contribute
its expected caudal portion of vagina lower
portion
( 1/5th -1/3rd) is replaced by 2-3 cm of fibrous tissue,
may extend to cervix in some individuals.
Clinical presentation : Cyclic pelvic pain due to
hematometra /hematocolpos.
O/E:Vaginal dimple / small pouch +

35. IMAGING:
USG/MRI- most accurate,Laparoscopy-if needed.
(Length of atresia,amount of upper vaginal dilatation,
presence of cervix)
Presence of cervix distinguishes it from mullerian
agenesis.

36. CERVICAL DYSGENESIS
CERVICAL BODY WITH FIBROUS
BAND
-GRAFTING
CERVICAL BODY IS INTACT WITH
OBSTRUCTION OF CERVICAL OS
-UTERVAGINAL CANALISATION
STRICTURE OF MID PORTION OF CERVIX
-UTEROVAGINAL CANALISATION
FRAGMENTED CERVIX
- CERVICAL RECONSTRUCTION

37.  CERVICAL ATRESIA
Women with congenital absence of cervix also lack
upper vagina (common mullerian source)
Uterus develops normally.
Clinical presentation :Primary amenorrhoea with
cyclic abdominal /pelvic pain.
If functional endometrium is +, distended uterus&
endometriosis occurs.
IMAGING- USG/MRI- single midline uterine fundus,
B/L hemiuteri may also be present

38. TREATMENT OF CERVIX AND VAGINAL
AGENESIS :
• Uterovaginal tract is created by split –thickness skin
graft.
• Absence of endocervical glands – absence of
cervical mucus.
• in case of stenosis of tract / severe endometriosis/
severe pelvic
Infection- hysterectomy with vaginoplasty.
delayed vaginoplasty can cause 1. graft
failure
2. fistula

39. SEPTATE UTERUS
 Failure of resorption of medial septum
after complete fusion of mullerian duct
 MOST COMMON.
 Types- depending on the septal length
 COMPLETE – Septum upto Os( double
vagina)
 PARTIAL –Septum doesn’t extend upto
Os.
 Fertility is not compromised yet has
poorest reproductive outcome.
 Causes 2nd trimester miscarriages (
greater the septum,greater the risk) ,
decreased intrauterine space for fetal
growth , implantation of placenta on
poorly vascularised septum.

40. IMAGING:
HSG:
Two chambered uterine cavity .
Intercornual distance< 2 cm.
Intercornual angle < 60 º
Allows misdiagnosis between complete septate & uterus
didelphys.
USG:
Intercornual distance < 2 cm
Intervening septum composed of muscle or fibrous tissue.

41.  MRI:
Normal fundal contour with outward convexity
Two separate uterine cavity
Intrafundal downward cleft depth <1cm.
Fundal segment of septum with intensity similar to
myometrium
Fibrous segment with low intensity
Laparoscopy :
Best for distinguishing between septate from
bicornuate uterus.

42. TREATMENT:
GnRH agonist given for 2months before surgery.
if not given, do surgery in early proliferative phase
A] HYSTEROSCOPY: septum resection with
Resectoscope
trans-cervically [method of choice]
B] 1.MODIFIED JONES : wedge resection containing
most septum.
2.TOMPKINS : single median incision dividing septum
into half and half of the lateral septum is incised with in
1cm of tubes.

45. BICORNUATE UTERUS
Incomplete fusion at the level of uterine
fundus
Lower uterus & cervix are fused completely
Two separate but communicating
endometrial cavity
Important to differentiate bicornuate uterus
from septate uterus – different
reproductive outcomes & treatment
strategies.
Types- depending on length of the septum
COMPLETE :Septum + upto cervix
BICORNUATE UNICOLLIS- Septum
extends upto internal os
BICORNUATE BICOLLIS – Septum extends
upto external os.
PARTIAL:Septum confined to fundal region

46.  Usually not associated with adverse reproductive
problem( depends on the length of the septum)
HSG:
Intercornual angle >105º
Two chambered uterine cavity
Allows misdiagnosis between partial septate &
bicornuate uterus

47. USG:
Two uterine cavity with normal endometrium
Reliable means of distinguishing bicornuate from septate uterus
Concave fundus with fundal cleft > 1 cm
Increased intercornual distance > 4 cm
Intervening septum echogenicity similar to myometrium
MRI:
Two uterine cavity with single cervix
Preserved zonal anatomy
Concave fundus with fundal cleft > 1 cm
Increased intercornual distance > 4 cm
Myometrial tissue separating two cavity has intensity identical to
that of myometrium

48. UTERINE DIDELPHYS
Failure of medial fusion of two mullerian
ducts
Characterised by 2 hemiuterus,
2 endocervical canal , 2 cervix , vagina
can be single / double.
Each hemiuterus has one fallopian tube.
Renal agenesis most commonly associated.
Simultaneous pregnancy occur in each uterus
Usually asymptomatic( non obstructive) – diagnosed during
pelvic examination – two cervix seen.
Associated with best possibility of successful pregnancy after
arcuate uterus,
H/O recurrent 2nd trimester abortion

49. U/L vaginal obstruction –
Hematometra, hematocolpos.
IMAGING:
HSG :
Two uterine cavity with two cervix with
two vagina.Intercornual distance > 4
cm
USG: Two separate uterus with two
cervix , separate vagina difficult to
see .
Endometrial & myometrial zonal width
– preserved
MRI:
Two separate uterus & cervix
Preserved zonal anatomy

50. TREATMENT OF DIDELPHYS &
BICORNUATE UTERUS
 HEINONEN et al reported fetal survival rate of 64%
with out metroplasty.
Complications : recurrent pregnancy loss, premature
birth, breech presentation, caesarean delivery
In case of bad obstetric history:
Treatment: STRASSMANN metroplasty
Procedure :a] resection of recto-vesical ligament
b] unification of cavity
Complications: uterine rupture, adhesions, cervical
stenosis

52. UNICORNUATE UTERUS
 One mullerian duct develops normally
while opposite fails to develop or
develop incompletely
 With rudimentary horn
With endometrial cavity –communicating/
non communicating
 Without rudimentary horn
 Associated with urological anomalies- 44%
 Poorest fetal survival among all mullerian anomalies
because of :
Insufficient muscular mass, decreased uterine volume,
decreased ability to expand.

53.  Non communicating accessory horn having
endometrial cavity – MC & most clinically significant.
Cause hematometra, endometriosis.
Ectopic pregnancy in horn follows rupture , hence
should be removed before pregnancy is planned.

54. IMAGING
HSG: Useful but cannot detect non communicating
horn.
USG:
Banana shaped uterus,
Laterally positioned
Rudimentary horn-soft tissue mass with echogenicity
similar to myometrium
Can identify communication with main uterine cavity

55. MRI:
Banana / cigar shaped uterine cavity
Laterally deviated
Preserved zonal anatomy
Rudimentary horn-soft tissue mass with intensity
similar to myometrium
Obstructed horn with functioning endometrium –
distended with blood or blood products.
Additional :IVP, Renal USG

56. TREATMENT
A] UNICORNUATE UTERUS AND
NONCOMMUNICATING UTERINE ANLAGEN:
* Treatment : excision of rudimentary horn
B] UNILATERAL OBSTRUCTION OF CAVITY OF
DOUBLE UTERUS:
*Treatment: septum excision and anastomosis
of 2 cavities
C] DOUBLE UTERUS WITH OBSTRUCTED
HEMIVAGINA:
*Treatment : excision of septum with stent.

57. UNICORNUATE WITH NON –
COMMUNICATING UTERINE
ANALAGEN
UNILATERAL OBSTRUCTION OF CAVITY
OF DOUBLE UTERUS

58. ARCUATE UTERUS
 Mild deviation from normal uterine
development.
 Characterised by minimal fundal
cavity indentation
 HSG – Single uterine cavity with
saddle shaped fundal indentation.
 USG- Fundal cleft <1cm
 MRI- Slightly concave or flat external
contour
 Cavity with broad & smooth
indentation similar to myometrium

59. DIETHYLSTILBESTROL-INDUCED
REPRODUCTIVE TRACT ANOMALIES
 DES exposure in utero lead to the
development of ‘T-shaped uterus’& increased
incidence of clear cell adenocarcinomas of
vagina & cervix.
 DES affects gene regulation.
 Vagina lined by glandular epithelium derived
from mullerian ducts, by the end of 2nd
trimester ,this layer is replaced by squamous
epithelium extending from urogenital sinus, its
failure- ADENOSIS
 Clinical features:
Vaginal irritation, discharge, post coital bleeding,
metrorrhagia.

60.  Transverse septa,circumferential ridges involving
vagina&cervix &cervical collars ( cockscomb cervix)
 Reduced fertility rates in these women are due to
cervical hypoplasia &atresia.
 Now , most affected women are past child bearing
age ,higher rates of earlier menopause & breast
cancer have been reported.

61. MULLERIAN AGENESIS/HYPOPLASIA:
 Absence or hypoplasia of uterus proximal to vagina
& in some cases fallopian tubes.
 Two variants :
Partial – Rare
Complete – More common –MRKH Syndrome

62. Mayer- Rokitansky- Kuster- Hauser Syndrome
 Congenital absence of uterus& vagina(small
rudimentary uterus may be present)
 Normal ovaries +
 Genotype – 46XX;Phenotype- Female
 Associated with other congenital anomalies (renal
&skeletal)
 MURCS- Mullerian duct aplasia, renal aplasia,
cervicothoracic somite dysplasia.
Diagnosis : At puberty with C/O primary amenorrhoea.
Normal development of breast,body,proportionate hair
distribution,external genitalia.
Vaginal vault – absent completely / short vagina can be
present
Normal hormone profile.

63. USG :
Absence of uterus& fallopian tube with normal ovaries.
MRI:
Absence of uterus,cervix,upper vagina
Hypoplastic uterus - <2cm intercornual distance
Zonal differentiation is poor.
Coexisting renal abnormality identified.

64. CLASSIFICATION OF METHODS TO
CREATE A NEW VAGINA
 Non surgical methods (intermittent pressure on the
perineum)-ACTIVE / PASSIVE DILATATION
 Surgical methods
A)Without the use of abdominal contents
WITHOUT CAVITY DISSECTION
Vulvovaginoplasty – WILLIAM’S
Constant pressure –
VECCHIETTI
Lining cavity with grafts
Split-thickness skin grafts -Mc
INDOE’S
Dermis grafts /Amnion homografts
Lining cavity with flaps
Musculocutaneous/Faciocutaneous/
Subcutaenous pedicled skin flaps/
Labial skin flaps ( created with tissue
expander)

65.  B)With use of abdominal contents (cavity lining with)
Peritoneum (DAVYDOV PROCEDURE)
Free intestinal graft /Pedicled intestine (RUGE
PROCEDURE)

66. NON –SURGICAL METHODS
Passive non surgical : Ingram
method
Mean age of patients: 17
years
Procedure: insertion of
dilators designed for use with
bicycle seat stool
* serial dilators
* 2hours/day
* intervals of 15-30mints
* follow up at monthly
intervals.
if unsuccessful -
vaginoplasty.

68. MC INDOE PROCEDURE
 MC INDOE OPERATION:
Complete absence of vagina
 Procedure: catheter placed in
urethra
*transverse incision
at apex of vaginal dimple.
*space between
bladder and rectum dissected
* dissection done till
under-surface of peritoneum
*space of vagina
enlarged by incision of pubo-
rectalis.
*channel created by
blunt dissection / Hegar

69. Preparation of vaginal form:
 Preparation of vaginal form : foam rubber block covered
with condom.
* form is compressed placed in vagina
* form allowed to expand condom closed.
*second condom over form tied
* graft sewn over form
Ideal graft –split skin graft from buttock.
0.018inch thick and 8-9cm wide 16-20cm length.

71.  The form removed after 7-10 days
 Vaginal cavity irrigated
 Advised daily insertion for 6weeks
 Only night time for 12 months.
 Complication : fistula, infection , haemorrhage, failure of
graft

72. VECCHIETTI PROCEDURE
 Neo-vagina 7-9 days.
 Procedure: by laparoscopy traction device placed in
abdomen.
*acrylic 2cm olive shaped bead over vaginal
dimple
* connected with threads to traction device.
*threads gradually tightened 1-1.5cm/day

74. DAVYDOV PROCEDURE
Neo vaginal space created with
pelvic peritoneum.
*pelvic peritonium is
mobilised laparoscopically.
* peritoneum is sutured to
introitus .
* vaginal mould for 6 weeks
then daily
Complications :
1.injury to ureters.
2. injury to ectopic
kidneys
3. bowel /bladder injury

76. WILLIAMS VULVOVAGINOPLASTY
Procedure :construction of
perineal bridge to hold vaginal
mould.
*full thickness skin flaps
from labia.
* not applicable for –
poorly developed labia
,patulous urethral meatus
disadvantages: high
perineum is created-urine
collection .
healing problem of suture line

77. IVF SURROGACY
 The ovarian function is normal in MRKH syndrome.
 studies on IVF surrogacy is reported to be
successful .
 In year 1997 Petrozza et al reported 162 IVF cycles
-34 live born with no congenital anomalies .
 studies by Beski et al and Goldfarb et al showed
similar out come and no congenital anomalies.

78. UTERINE TRANSPLANTATION
 Aspirin and immuno-supressive therapy
 Fertility after 12 months after transplant
 if successful delivery by caesarean between 35-
37wks

79. TAKE HOME MESSAGE
 A comprehensive preoperative evaluation of patients
with suspected malformation of mullerian ducts is
essential.
 A clear understanding of particular anomaly may not
be established until the time of surgical correction,
hence surgeons must be skilled in both uterine &
vaginal reconstructions.
 Prompt evaluation & accurate description of
reproductive implications or obstetric consequences
of uterovaginal anomaly should be explained to the
patient.

80. REFERENCES
 Te Linde ‘s Operative Gynaecology – 11th edition
 Wlliam’s Gyanecology – 3rd edition
 Clinical Gynaecologic Endocrinology & Infertility by
Leon Speroff- 8th edition
 Essentials of Gynaecology by Lakshmi Seshadri –
2nd edition