Post on 21-Oct-2021
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