Congenital uterine anomalies Flashcards
ASRM MAC 2021 classification
Separates into:
Mullerian agenesis (aka vaginal agenesis, MRKH syndrome)
Cervical agenesis
Unicornuate uterus (+/- distal or close (associated) remnant with +/- functional endometrium
Uterus didelphys (+/- longitunidal vaginal septum +/- obstructed hemivagina (OHVIRA) +/- dygenetic hemicervix and single vagina)
Bicornuate uterus (serosal indentation >1cm)
OHVIRA (bicorunate uterus with obstructed hemivagina)
Septate uterus (septum length >1cm, and septum angle <90degrees)
Robert’s uterus is a septate uterus with obstructed r/l endometrial cavity.
Complete septate uterus with 1 or 2x cervices and longitudinal vaginal septum.
OHVIRA as above by with obstructed hemivagina.
Longitudinal vaginal septum
Transverse vaginal septum
Complex anomalies
Arcuate normal variant (length <1cm and angle >90 degrees)
ESHRE/ESGE 2013 classification
Class U0 - normal = straight or curved interostial line but with an internal indentation at the fundal midline not exceeding 50% of uterine wall thickness.
Class U1 (dysmorphic - all cases with normal uterine outline but abnormal shape)
a) T-shaped - narrow uterine cavity due to thickened lateral walls (1/3 cervix, 2/3 uterine body)
b) infantilis - narrow uterine cavity without lateral wall thickening (2/3 cervix, 1/3 uterine body)
C) other
Class U2 (septate - normal fusion but abnormal resorption of midline septum)
Septate uterus - uterus with normal outline and an internal indentation at the fundal midline exceeding 50% of the uterine wall thickness.
Separated into partial and complete
Class U3 (bicorporeal - all cases of fusion defects). Uterus has an abnormal fundal outline, characterised by external indentation at fundal midline >50% of the uterine wall thickness
a) partial
b) complete
c) bicornuate and septate (Uterine didelphyis)
Class U4 (hemi-uterus/unicornuate) - a formation defect
a) with a functional rudimentary cavity
b) without a functional rudimentary cavity (inlcuding aplastic/nonfunctioning horns)
Class U5 (aplastic uterus)
a) with rudimentary functional cavity
b) without reudimetary functional cavity (can have nonfunctioning uterine remnants)
Class U6 - unclassified cases
Definition and incidence in different populations
Difficult to accurately identify prevalence due to different classification systems, asymptomatic patients etc.
No universally accepted classification system.
Timing of embryological events (gestation) and cause of issues if abnormal
6/40 Paramesonephric/Mullerian ducts form (organogenesis)
- abnormality causes - agenesis/hypoplasia, ie vaginal agenesis (MRKH), unicornuate uterus, cervical agenesis etc.
10/40 Paramesonephric ducts fuse in the midline
- horizontal fusion abnormalities - bicornuate, uterine didelphyis
13/40 - fusion of the Paramesonephric ducts with the urogenital sinus at Muller’s tubercle
- tranverse vaginal septum, segmental vaginal agenesis
20/40 - resorption - canalisation of the uterine septum, occurs in a caudal to cranial direction
- Uterine septum, longitudinal vaginal septum (arcuate uterus though not considered a CUA by some classifications).
Presentations for CUA
Asymptomatic - picked up incidentally on scan
Gynaecological symptoms - primary amenorrhoea, pain, pelvic mass, AUB, vaginal discharge, genital tract infections
Reproductive issues - miscarriage (spontaneous or recurrent), cervical insufficiency, preterm birth, IUGR, APH, PPH, placental attachment abnormalities, fetal malpresentaiton, caesarean delivery, rupture of rudimentary horn
Diagnosis and associated anomalies
2D USS and HSG/saline sonohysterogram
3D USS
MRI
Laparoscopy and hysteroscopy (gold standard)
Associated anomlaies
Up to 53%
Renal 28% (unilateral agenesis, horseshoe)
Skeletal 8-30% (scoliosis, vertebral arch disturbances, hypoplasia of the wrist)
Small increase in hearing impairment
Can also be seen in VATER/VACTERL
Principals of management
Manage symptoms (could initially be menstrual suppression prior to definitive surgical management)
Assess for associated anomalies
Psychosocial counselling (can be quite significant depending on anomaly i.e. MRKH)
Discuss reproduction
Vaginal agenesis
MRKH syndrome
Congenital absence of the vagina with variable degrees of uterine development
Affects 1 in 4500 females.
Aetiology unknown ?WnT4/HNF1b gene involvement, likely hormonal and environmental
Either have markedly shortened vagina or vaginal dimple below urethra.
Can have a uterine remnant present +/- functional endometrium (7% have functional endometrium).
Presents with primary amenorrhoea and normogonadotrophic normogonadism. Have secondary sexual characteristics.
In patients presenting with Absent uterus, primary amenorrhoea and normogonadotrophic normogonadism - always do a karyotype - differentiate between MRKH and CAIS
Often get obstructed hemivagina and ipsilateral renal agenesis (OHVIRA)
Management for absent/shortened vagina
Counselling, peer support
Vaginal elongation
- vaginal dilators first line, safer, patient controlled, more cost effective than surgery. Patient must be well counselled and emotionally prepared - no rush to do this.
90-96% are able to achieve and anatomic and functional vagina.
- often inpatient vaginal dilator use is second line option.
Can use alongside analgesia, LA gel, ovestin cream
Surgery is reserved for the rare patient who is unsuccessful with primary dilator therapy, has complex anatomy (Cloacal anomaly), prefers surgery after informed consent.
Note = VIN/VAIN possible, Risk of STIs present (recommend condoms).
Surgical options for neovagina
Can be laparoscopic or laparotomy
Options are often limited due to previous surgeries
Indication is important - to relieve obstructed menstruation - may need to perform in early adolescents. For intercourse - planned and timed appropriate to need.
tranverse vaginal septums
Aetiology unknown - failure of canalisation of vaginal plate
1 in 30 000 to 80 000
Majority are thin but occasionally will have a thick spetum
Can be assoc with imperforate anus, bicornuate uterus, CoA, ASD, spinal malformations.
Mucocolpos/haemtocolpos
Essential preoperatively to differentiate from imperforate hymen.
MRI best modality - position of setpum, whether cervix is present, amount of upper vaginal tissue, rneal anomalies
Surgery - Planned in MDT, menstrual suppression whilst planning- timing of surgery (often some menstruation good to thin septum and make surgery easier as long as not causing pain) - either do a primary anastomosis or a Z-plasty technique. Surgery can be vaginal or abdominoperineal (laparotomy or laparoscopy)
Non-communicating anomalies
Non-communicating uterine lesions
- unicornuate uterus with non-communicating horn
(assoc with endometriosis due to retrograde menstruation - this will resolves usually after removal of obstruction)
- ACUM (accessory cavitated uterine malformation)
rare cause of refracotry dysmenorrhoea
suggested criterion for diagnosis - 1. isolated accessory cavitated mass, 2. normal uterus, fallopian tubes, ovaries, 3. lined by endometiral epithelium with glands and stroma, 4. chocolate brown coloured fluid content, 5. no adenomyosis.
Longitudinal vaginal septums
- isolated or associated with OHVIRA
Longitudinal vaginal septums
Commonly associated with uterine anomalies
Presentation varies - asymptomatic, difficulty inserting tampons, persistent bleeding despite tampon placement, tearing post-coital, pain - dyspareunia/dysmenorrhoea
Surgery important if symptomatic and can assist in facilitating vaginal delivery.
Often can cause hemivagina and obstruction (95% will have OHVIRA).
Hemivagina often late presentation - as menstruation occuring, MRI recommended, treated with excision of the vaginal septum.
Asymptomatic CUA and reproduction
Canalisation defects have the worst outcomes
Unification/fusion defects don’t affect conception but can cause pregnancy complications
Conception - Septum reduces
Miscarriage - bicornuate > septate >unicornuate
PTB - Unicornuate > bicornuate > septate
Fetal malpresentation Septate > bicornuate > didelphys > unicornuate
Surgical managment of CUA for reproductive outcomes
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