MULLERIAN ANOMALIES

Moderator:

Prof. KRISHNENDU GUPTAProfessor & Unit Head

Department of Obstetrics & Gynaecology

RKMSP & VIMS, Kolkata

Dr. PUNAM KUMARI2nd Year PGT

Obstetrics & Gynaecology RKMSP & VIMS, Kolkata

Date-30 Apr 2020

EMBRYOLOGY: MULLERIAN DUCT

• Paired ducts derived from

intermediate mesoderm, lateral

to Wolffian ducts as invagination

of dorsal celomic epithelium.

• Appears between 5–6 weeks.

• Grows downwards and lateral to

corresponding Wolffian ducts.

• Turn inwards and crosses anterior to it, to join

the fellow from opposite side.

• Upper vertical part lateral to Wolffian duct,

forms part of fallopian tubes.

• Middle horizontal part forms remaining of

fallopian tubes.

• Lower vertical part, fusing to opposite side

forms uterus, cervix and upper 2/3rd of vagina.

• HoxA9 gene» fallopian tube

• Hox A10 & HoxA11 » developing & adult uterus

Contd…

MECHANISM

• Complete formation and differentiation of Mullerian duct depends on

three (3) phases of development:

1. ORGANOGENESIS

2. FUSION

3. SEPTAL RESORPTION.

1. ORGANOGENESIS:

One or both Mullerian ducts may not develop fully

eg. uterine agenesis or hypoplasia, unicornuate

uterus.

2. FUSION:

❖ Lateral fusion: Process during which lower

segment of paired Mullerian duct fuse eg. uterine

didelphys, bicornuate uterus, arcuate uterus.

❖ Vertical fusion: Fusion of ascending

sinovaginal bulb with descending

mullerian duct - transverse vaginal

septum, imperforate hymen.

3. SEPTAL RESORPTION:

After fusion, central septum persist,

later resorps to form single

uterocervical cavity - septate uterus.

MULLERIAN ANOMALIES

• Genes affecting: WT1; Pax 2; WNT 2; PBX 1; HOX

• Associated renal anomalies (30–50% cases)

➢Unilateral renal agenesis

➢Severe renal hypoplasia

➢Horse-shoe kidney

➢Pelvic kidney

➢Ectopic or duplicate ureter.

Contd…

• Associated spinal anomalies:

➢Supernumerary vertebrae

➢Wedge-shaped vertebral bodies

➢Asymmetric vertebral bodies

➢Rudimentary vertebral bodies.

MURCS: Mullerian Renal aplasia Cervico-thoracic SomiteDysplasia.

CLASSIFICATION

MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

• Congenital absence of uterus and vagina.

• In classic mullerian agenesis, a shallow vaginal pouch (1-2

inches) remains.

• Normal ovarian function including ovulation is preserved.

• Genotype: 46XX

• Phenotype: female

• Associated with other congenital anomalies, eg. Skeletal,

renal.

• An important cause of primary amenorrhoea.

• Secondary sexual characters normal.

• Vaginal vault may be completely absent or short vaginal port can be present.

• Hormonal profile: normal

USG

➢ Absence of uterus and fallopian tubes with normal ovaries.

MRI

➢ Uterus and vagina absent.

➢Rudimentary uterus can be seen.

➢Coexisting renal abnormality can be identified.

Contd…

Treatment:

❑GOAL: Creation of functional vagina.

Conservative Methods: success rate - 90%

❖FRANK method (1938): Sequential application of

graduated hard glass dilators.

❖INGRAM’S passive dilatation (1981): Dilators affixed to a

bicycle seat mounted upon a stool; 30 mins – 2 hrs daily.

❖Silicon dilators.

Contd…

SURGICAL METHODS:

❖McINDOE vaginoplasty: Creation of neovagina in

between bladder and rectum, lining with split thickness

skin graft from buttock or thigh.

❖Modified McINDOE methods: Use of buccal mucosa,

human amnion, absorbable adhesion barriers as

neovaginal lining.

❖DAVYDOV PROCEDURE: Pulling of pelvic peritoneum

from the pelvis into newly created vaginal space and then

to the introitus.

❖VECCHIETTI PROCEDURE: Initial abdominal surgery to

create an apparatus for passive vaginal dilatation.

❖UTERINE TRANSPLANTATION: HARVEST AND

REVASCULARISATION

Contd…

SEGMENTAL MULLERIAN AGENESIS• Some form of Mullerian aplasia/hypoplasia or agenesis affects 1 in every 4000 to 10,000

females.

• Common cause of primary amenorrhea.

• Types:

A. Vaginal

B. Cercival

C. Uterine

D. Tubal

E. Combined.

VAGINAL ATRESIA:

• Embryologically, the urogenital sinus fails to contribute its expected caudal

portion of vagina (Simpson, 1999).

• Lower portion of vagina (1/5th to 1/3rd of total length) is replaced by 2–3 cm

fibrous tissue.

• Usually not apparent before menarche.

• Diagnosis:

1. Recto-abdominal examination

2. USG: Displays upper reproductive tract organs

3. MRI: Length of atresia, amount of upper vaginal dilatation, identify cervix.

Contd…

CERVICAL AGENESIS:

• Presents with amenorrhoea and cyclic abdominal pain.

• If functional endometrium present, may develop endometriosis.

• Diagnosis made from history and imaging.

Treatment:

➢Hysterectomy has been recommended by some (Rock, 1984)

➢Niver (1980) and others reported creation of an epithelialized

endocervical tract and vagina.

➢Conservative management done until patient is ready for

reproduction options (Doyle, 2009).

UNICORNUATE UTERUS

• One Mullerian duct develops normally while the opposite

fails to develop or develop incompletely.

• Types:

❑Rudimentary horn communicating with cavity of

unicornuate uterus

❑Rudimentary horn not communicating with cavity of

unicornuate uterus

❑Rudimentary horn with no cavity

❑Without any rudimentary horn.

TYPES OF UNICORNUATE UTERUS

• Risk of spontaneous abortion and preterm labour is more due to:

➢Reduced uterine capacity

➢Anomalous distribution of uterine artery.

➢Associated cervical incompetence.

• Pregnancy may occur in the rudimentary horn (both communicating and

non-communicating)

• Laparotomy followed by excision of rudimentary horn is indicated

preconceptionally.

Contd…

UTERINE DIDELPHYS

• Results from failed fusion of the paired Mullerian

ducts.

• Characterised by two separated uterine horns,

each with an endometrial cavity and uterine cervix.

• Good reproductive prognosis due to improved

blood supply from collateral connections between

two horns.

• Surgery is generally not indicated

BICORNUATE UTERUS

• Caused by incomplete fusion of two

Mullerian ducts.

• Good pregnancy outcome in 60% cases.

• Can be confused with septate uterus, but

discrimination is important as septate

uterus can be treated more easily.

• Treatment: STRASSMAN Metroplasty.

BICORNUATE SEPTATE

INTERCORNUALANGLE

>105 degrees <75 degrees

INFRAFUNDALCLEFT IN MRI

>1 cm <1 cm

SEPTATE UTERUS

• Following fusion of Mullerian ducts, failure of their medial

segment to regress.

• Types: 1. Partial

2. Complete

• Spontaneous abortion is very high due to:

➢Partial or complete implantation on the avascular septum.

➢Distorted uterine cavity

➢Associated cervical and endometrial abnormalities

• Diagnosis done by USG, HSG and diagnostic hysteroscopy.

• Treatment:

Hysteroscopic resection is more suitable than metroplasty,

because:

❖Cesarean section is must following metroplasty.

❖Chances of adhesions subsequent infertility.

• 87% live birth following hysterescopic resection.

• 70% live birth following metroplasty.

Contd…

ARCUATE UTERUS

• Mild deviation from normal uterine development.

• Slight midline septum within a broad fundus,

sometimes with a minimal fundal cavity indentation.

• Most clinicians reported no impact in reproductive

outcome.

• HSG:

➢Single uterine cavity with saddle shaped fundal

indentation.

• MRI:

➢Concave or flat contour.

➢Cavity with broad and smooth indentation

similar to myometrium.

• Surgical resection is indicated only if excessive

rates of pregnancy loss is encountered in

absence of other causes of RPL.

Contd…

DIETHYLSTILBESTROL RELATED ANOMALIES

• DES is a synthetic non-steroidal estrogen.

• Affects gene regulation: suppresses WNT4 gene and

alters Hox gene expression.

• Exposure in utero causes “T-shaped” uterus; clear cell

adenocarcinoma of vagina and cervix; transverse

septa; circumferential ridges involving cervix and

vagina; cervical collars or “cockscomb cervix”.

IMAGING MODALITIES

HYSTEROSALPINGOGRAM:

• Primary imaging technique.

• Normal uterus appears with typical trigone configuration.

• Intercornual distance:

o Septate uterus: <2cm.

oBicornuate uterus: >4cm.

• Intercornual angle:

oBicornuate uterus: >105*.

o Septate uterus: <75*.

• T- shaped uterus: Only anomaly where HSG plays a significant role.

• A hypoplastic, irregular, T shaped uterine cvity: in-utero DES exposure.

Contd…

ULTRASONOGRAPHY

• Most commonly 2D-USG is used to evaluate.

• Also diagnoses associated renal anomalies.

Hypoplasia / Agenesis:

▪ Absence of uterus and cervix: Agenesis.

▪Uterus with <2cm Intercornual distance: Hypoplasia.

Unicornuate uterus:

▪ Banana-shaped uterus

▪ Laterally positioned

▪ Rudimentary horn: soft tissue mass with echogenicity

similar to myometrium.

Uterine didelphys:

▪ Two separate uterus with two cervix seen.

▪ Endometrial and myometrial zonal width are preserved.

Contd…

Bicornuate uterus:

▪ Two uterine cavities with normal endometrium.

▪ Concave fundus with fundal cleft >1 cm.

▪ Increased intercornual distance >4 cm.

▪ Intervening septum echogenicity similar to myometrium.

Septate uterus:

▪ Convex fundal contour.

▪ Intercornual distance <2cm.

▪ Intervening septum composed of muscle or fibrous tissue.

Contd…

3D ULTRASONOGRAPHY

• Permits accurate diagnosis.

• Sensitivity: 98.4%

• Specificity: 100%

• Best performed during secretory phase of menstrual cycle.

• The coronal plane shows the entire endometrial canal and its

relation to myometrium and serosa.

• Accurately analyses uterine structure, contour of fundus,

Muscular thickness, septal length.

MRI

• Gold standard non-invasive imaging technique to diagnose uterine anomaly.

• Also important to evaluate concomitant renal anomaly.

Unicornuate uterus with hematometra in

rudimentary horn

Uterus didelphys Bicornuate uterus

THANK YOU