Clinical Manifestations and Diagnosis of Congenital Anomalies of The Uterus

6/11/2015
Clinicalmanifestationsanddiagnosisofcongenitalanomaliesoftheuterus
OfficialreprintfromUpToDate
www.uptodate.com2015UpToDate
Authors
RonaldEIverson,Jr,MD
AlanHDeCherney,MD
MarcRLaufer,MD
SectionEditor
RobertLBarbieri,MD
DeputyEditor
SandyJFalk,MD,
FACOG
Alltopicsareupdatedasnewevidencebecomesavailableandourpeerreviewprocessiscomplete.
Literaturereviewcurrentthrough:May2015.|Thistopiclastupdated:Apr21,2015.
INTRODUCTIONCongenitalanomaliesoftheuterusareoftenasymptomaticandthereforeunrecognized.
Theymayaffectayoungwomanduetopainatthetimeofmenarche,orawoman'sobstetricand/or
gynecologichealth.
Theclassification,diagnosis,andclinicalmanifestationsofcongenitaluterineanomalieswillbereviewedhere.
Treatmentoftheseanomaliesandcongenitalcervicalandvaginalabnormalitiesarediscussedseparately.(See
"Surgicalmanagementofcongenitaluterineanomalies"and"Congenitalcervicalanomaliesandbenigncervical
lesions"and"Diagnosisandmanagementofcongenitalanomaliesofthevagina".)
CLASSIFICATIONAclassificationsystemisanattempttogroupbysymptomatology,treatment,or
prognosis.Itisthroughuseofstandardizednomenclaturethatphysicianscanmoreaccuratelycodifythe
symptomatology,treatment,andoutcomeofpatientswithuterineanomalies.Unfortunately,thereisno
universallyacceptedandinterpretedclassificationsystemforuterineanomalies[1].
TheEuropeanSocietyofHumanReproductionandEmbryology(ESHRE)andtheEuropeanSocietyfor
GynaecologicalEndoscopy(ESGE)publishedaclassificationsystemin2013(figure1AB)[2].
TheAmericanFertilitySocietyin1988producedastandardformforclassificationofmlleriandefects
(table1andfigure2)[3].Thisdescriptiveformfocuseslargelyonverticalfusiondefectsand,therefore,
onuterinedysgenesis.Associatedanomaliesinthevagina,cervix,fallopiantubes,andrenalsystem
shouldalsobenoted.
Otherclassificationsystemshavebeendescribed,suchastheclinicalembryologicalsystemshownin
thetable(table2)[4].
INCIDENCE
OverviewTheincidenceofcongenitaluterineanomaliesisdifficulttodeterminesincemanywomenwith
suchanomaliesarenotdiagnosed,especiallyiftheyareasymptomatic.Uterineanomaliesoccurin2to4
percentoffertilewomenwithnormalreproductiveoutcomes[511].Inoneofthebetterdesignedstudies,the
uteriof679womenwithnormalreproductiveoutcomeswereevaluatedwithlaparoscopyorlaparotomypriorto
tuballigation,andthenbyfollowuphysterosalpingogram(HSG)fivemonthsaftersterilization[5].The
incidenceofcongenitaluterineanomalieswas3.2percent[5].Thetypeandfrequencyofabnormalitywere
septateuteri(90percent),bicornuateuterus(5percent),anddidelphicuterus(5percent).
Theprevalenceishigheramongwomenwithadversereproductiveoutcomes[7,11].Asanexample,the
incidenceofmulleriananomaliesamongwomenwithrecurrentfirsttrimestermiscarriageorlatefirsttrimester
secondtrimestermiscarriage/pretermdeliverywas5to10percentandgreaterthan25percent,respectively,in
anotherstudy[7].
Womenwithprimaryinfertilityhaveaboutthesameprevalenceofcongenitaluterineanomaliesasfertile
womenwithnormalreproductiveoutcomes[11].
FrequencyofspecificanomaliesAreviewincludingacombinedpopulationofinfertileandfertilewomen,
thefrequencyofanomaliesbytypewas:septate(35percent),bicornuate(26percent),arcuate(18percent),
unicornuate(10percent),didelphys(8percent),andagenesis(3percent)[11].However,theseproportionscan
varysubstantiallydependinguponthespecificpopulationstudiedandthemethodologyusedtoidentifythe
http://www.uptodate.com.ezproxy.ugm.ac.id/contents/clinicalmanifestationsanddiagnosisofcongenitalanomaliesoftheuterus?topicKey=OBGYN%2
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abnormalities.
DEVELOPMENTALDEFECTSThenormalembryologyofthefemalegenitaltractisreviewedseparately.
(See"Diagnosisandmanagementofcongenitalanomaliesofthevagina",sectionon'Embryology'.)
Therearethreecommondevelopmentaldefectsofthemlleriansystemtoconsider:
Agenesis
Lateralfusiondefects
Verticalfusiondefects
AgenesisTheMayerRokitanskyKsterHauser(MRKH)syndromereferstocongenitalabsenceofthe
vaginawithvariableuterinedevelopmentitistheresultofmllerianagenesis.Variableuterinedevelopment
mayresultinlateralhemiuterioruterinehorns,amidlineuteruswithoutacervix,ornouterinestructuresatall.
(See"Diagnosisandmanagementofcongenitalanomaliesofthevagina",sectionon'Vaginalagenesis'.)
LateralfusiondefectsLateralfusiondefectsarethemostcommontypeofmlleriandefect.Theresulting
organsareeithersymmetricorasymmetric,andobstructedornonobstructed.Thesefusiondefectsresultfrom
failureofformationofonemllerianduct,migrationofaduct,fusionofthemllerianducts,orabsorptionofthe
interveningseptum.Defectiveresorptionofthetissuebetweenthefusedmllerianductsresultsinauterine
septum,whichmayextendeitherpartiallydowntheuterusorthefulllengthtothecervix.Aseptumisthemost
commontypeofuterinedefect.
Septate/arcuateuterusAseptateuterushasanormalexternalsurfacebuttwoendometrialcavities
(figure3),incontrasttoabicornuateuterus(seebelow)whichhasanindentedfundusandtwoendometrial
cavities(figure4).Theseptateuterusdevelopsfromadefectincanalizationorresorptionofthemidlineseptum
betweenthetwomllerianducts.Thedegreeofseptationvariesfromasmallmidlineseptum(figure3)tototal
failureinresorptionresultinginaseptateuteruswithlongitudinalvaginalseptum(figure5AB).Partialand
completeuterineseptaaredefinedbytheproximityoftheseptumtotheinternalosthepresenceorabsence
ofacompleteorpartialvaginalseptumisnotrelevanttotheclassification[12].
Anarcuateuterushasaslightmidlineseptumwithminimal,andoftenbroad,fundalcavityindentation(figure6
andimage1)ithasbeenvariouslyclassifiedasaseptateuterus,bicornuateuterus,ornormalvariant[13].
Thereappearstobeahigherriskofrecurrentmiscarriageassociatedwithlongersepta,butthisiscontroversial
andmanyuntreatedwomenhavegoodpregnancyoutcomes.Pregnancyoutcomesreportedinsuchwomen
revealedspontaneousabortionin2144percent,pretermdeliveryin1233percent,andlivebirthin5072
percent[12].
Surgicalrepairwithresectionoftheseptumhysteroscopically,orhysteroscopicmetroplasty,providesexcellent
posttreatmentresults[14].(See"Surgicalmanagementofcongenitaluterineanomalies".)
UnicornuateuterusTheunicornuateuterusisanexampleofanasymmetriclateralfusiondefect(figure
7).Onecavityisusuallynormal,withafallopiantubeandcervix,whilethefailedmllerianducthasvarious
configurations(figure8AE).Theaffectedmllerianductmaynotdevelopatall,oritmaydeveloponlypartially
aseitherarudimentaryhornontheuterusorananlage(aclusterofembryoniccells).Thishornoranlagemay
ormaynotcommunicatewiththeuterus.Althoughmostrudimentaryhornsareasymptomatic,otherscontain
functional,butnotnecessarilynormal[15],endometriumthatisshedcyclically.Iftherudimentaryhornis
obstructed(withoutcommunicationtotheotheruterusorcervix),thewomenmaydevelopcyclicorchronic
abdominopelvicpainandmayrequiresurgicalexcisionoftheobstructedhorn.Inaliteraturereview,themean
ageofpresentationwasthemid20s[15].
Areviewofpregnancyoutcomesinunicornuateuterireportedthat,althoughunicornuateuterioccursin1:4020
womeninthegeneralpopulation,itismorecommonininfertilewomen[16].Inaddition,womenwith
unicornuateuterihadthefollowingratesofobstetriccomplications:2.7percentectopicpregnancy,24.3
percentfirsttrimesterabortion,9.7percentsecondtrimesterabortion,20.1percentpretermdelivery,3.8
percentintrauterinefetaldemise,and51.5percentlivebirths.
Unicornuateuteruscanbeassociatedwithanectopicovary,whichisofclinicalimportanceinwomen
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undergoingovulationinductionorwhodevelopovarianneoplasms[17,18].Ectopicovarieshavebeenidentified
usingmagneticresonanceimaging.
Thekidneysshouldbeevaluatedsonographicallyifaunicornuateuterusisnotedbecauseofthehighincidence
(40percent)ofassociatedrenalabnormalities[19].Womenwithaunicornuateuterusareathigherriskfor
infertility,endometriosis,prematurelabor,andbreechpresentations(see'Obstetricalcomplications'
below)[20].
BicornuateuterusAbicornuateuterusreferstoauterusinwhichthefundusisindented(arbitrarily
definedas1cm)andthevaginaisgenerallynormal[21].Thisanomalyresultsfromonlypartialfusionofthe
mllerianducts.Thisleadstoavariabledegreeofseparationoftheuterinehornsthatcanbecomplete(figure
4),partial(figure9),orminimal(ie,thearcuateuterusmerelyhasanindentationatthecenterofthefundus)[3].
Pregnancyoutcomeshavebeenreportedtobeclosetothoseofthegeneralpopulation.However,some
womendodevelopcomplications,suchaspregnancyloss,pretermlabor,ormalpresentations(see'Obstetrical
complications'below)[9].Surgicaltreatmentrequiresuterinereunificationthroughalaparotomy.
UterinedidelphysUterinedidelphys,ordoubleuterus,occurswhenthetwomllerianductsfailtofuse,
thusproducingduplicationofthereproductivestructures(figure10AB).Generallytheduplicationislimitedto
theuterusandcervix(uterinedidelphysandbicollis[twocervices])(picture1AC),althoughduplicationofthe
vulva,bladder,urethra,vagina,andanusmayalsooccur.Fifteento20percentofwomenwithdidelphicuterus
alsohaveunilateralanomalies,suchasanobstructedhemivaginaandipsilateralrenalagenesistheanomalies
areontherightin65percentofcases[22].
Womenwithadidelphicuterusandbicollisoftenhavegoodreproductiveoutcomes.Aseptatedvaginaoccurs
in75percentofcasesandmaycausedifficultywithsexualintercourseorvaginaldelivery.Affectedwomen
mayoptforresectionofthevaginalseptum.Metroplastyshouldbeconsideredforwomenwithpelvicpain,
recurrentmiscarriages,orahistoryofpretermdelivery.
Womenwithanobstructedhemivaginaandipsilateralrenalagenesis/anomaly(figure11)willhaveregular
mensesbecausemenstrualbloodfromoneuteruscanegressthroughitsnonobstructedcervixandhemivagina
[23].However,suchpatientswillmostlikelydevelopcyclicpainduetobuildupofbloodintheobstructed
hemivagina[24].Inaddition,theremaybeamicrocommunicationbetweenthepatentvaginaandthe
obstructedvaginaresultinginaninfectedobstructedhemivagina.Treatmentinvolvesresectionofthewallof
theobstructedvaginafollowedbycreationofasinglevaginalvault.Bilateralobstructionisalsopossible,and
presentswithprimaryamenorrhea(figure12).
VerticalfusiondefectsVerticalfusiondefectsareduetoeitherdefectivefusionofthecaudalendofthe
mllerianductandurogenitalsinusorproblemswithvaginalcanalization.Theresultingvaginalseptumor
cervicalagenesisordysgenesismaybeobstructedornonobstructed.Theamountofobstructionwilldetermine
symptomatology,includingobstetricoutcomes.(See"Diagnosisandmanagementofcongenitalanomaliesof
thevagina"and"Congenitalcervicalanomaliesandbenigncervicallesions".)
DiethylstilbestrolinduceddefectsExposuretodiethylstilbestrol(DES),asyntheticestrogenusedfrom
1949to1971,isassociatedwithavarietyoffemalegenitaltractanomalies.
Uterineanomalies(Tshapeduterinecavity,hypoplasticuterus,midfundalconstrictions,fillingdefects,
andendometrialcavityadhesions(figure13AC)).
Vaginaladenosis,vaginalridges,transversesepta.
Cervicalanomaliesincludinghypoplasia,hoods,collars,orpseudopolyps.
(See"Outcomeandfollowupofdiethylstilbestrol(DES)exposedindividuals".)
AssociatedrenalanomaliesRenalanomaliesarefoundin20to30percentofwomenwithmllerian
defects[25,26].Therefore,allwomenwithmlleriandefectsshouldundergoaradiologicrenalinvestigation,
suchasanintravenouspyelogramorrenalultrasound.
Ipsilateralrenalagenesisisinvariablynotedwithobstructivemlleriandefects.Obstructionmayoccurina
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unicornuateuteruswithafunctioning,noncommunicatinghornanobstructedcavityinoneofthedoubleuteri
orwithavaginalseptumleadingtoobstruction.Obstructionshaveonlybeenobservedunilaterallymostlikely,
ifbilateralobstructionoccurs,bilateralrenalagenesiswilloccuraswell,whichisalethalabnormality.(See
"Prenataldiagnosisofrenalagenesis".)
Inaddition,upperurinarytractanomaliessuchashorseshoekidney,duplicationofthecollectingsystem,
pelvickidney,andectopicallylocatedureteralorificeshaveallbeennotedatincreasedfrequency.Inone
series,asanexample,37percentofwomenwithasolitarykidneyhadgenitalabnormalities[27].(See"Renal
ectopicandfusionanomalies".)
ETIOLOGYTheunderlyingetiologyofcongenitalmlleriandefectsisnotwellunderstood.Thekaryotypeof
womenwiththeseanomaliesisusuallynormal(46,XXin92percent).Mostofthedefectsarelikelytobe
relatedtopolygenicandmultifactorialcauses.
CLINICALMANIFESTATIONSCongenitalanomaliesoftheuterusareoftendiagnosedincidentallyduring
theevaluationofcommongynecologicandobstetricproblems.Adolescentsmaypresentwithpelvicpaindue
toanobstructionorassociatedendometriosis.Manyanomaliesinadultsarediscoveredafter
hysterosalpingographyduringaworkupofinfertilityorreproductiveloss.
SignsandsymptomsThesignsandsymptomsassociatedwithmlleriananomaliesvarygreatly,
dependinguponthedefectinvolved.
Adolescentsmayhaveincreasedpelvicpain(eithercyclicornoncyclic),dysmenorrhea,abnormalvaginal
bleeding,orvaginalpain.(See"Primarydysmenorrheainadolescents".)
Menstrualabnormalities:Hypomenorrheamayoccurifthereisminimalendometriumamenorrheamaybe
asignofMayerRokitanskyKusterHausersyndromeoraverticalfusiondefect.
Longitudinalvaginalseptummayoccuralone,butisusuallyseenwithdidelphicorotherformsofdouble
uterus.Avaginalseptummayleadtodyspareuniaorcomplaintsofbleedingdespiteuseofatampon
(thesepatientsneedtwotampons,oneineachvagina),leukorrhea,ordystociaatdelivery.
Ifonesideofthevaginaisobstructed,complicationssuchahydrocolposandhematocolposmayoccur
andamassmaybedetectedonbimanualexamination.Inaddition,microperforationsintotheobstructed
vaginacanleadtoinfection.
Thewomanmaypresentwithendometriosisanditsassociatedsymptomsifanoncommunicating
functioninghornseedstheperitoneumthroughretromenstruation.(See"Endometriosis:Pathogenesis,
clinicalfeatures,anddiagnosis".)
Obstetricalcomplicationsaremorecommoninwomenwithuterineanomalies(seebelow)
Theredoesnotappeartobeanyassociationbetweenthepresenceofuterineanomaliesanddevelopmentof
ovarianneoplasia[12,28].
FertilityUterineabnormalitiestypicallydon'tpreventconceptionandimplantation.Womenwithuterine
anomaliesundergoingIVFhavesimilarclinicalpregnancyratesaswomenwithnormaluteriundergoingIVF
[29,30].
OBSTETRICALCOMPLICATIONS
OverviewObstetricalcomplicationsreportedtooccurmorecommonlywithuterineanomaliesinclude
increasedrisksofmiscarriage,prematurity,intrauterinegrowthrestriction,antepartumandpostpartumbleeding,
cervicalincompetence,abnormalfetalpresentation,pregnancyassociatedhypertension,andcesareandelivery
[11,16,3134].Thetermcornualpregnancyreferstoimplantationineitherthehornofabicornuateuterus,a
rudimentaryhornofaunicornuateuterus,orinthelateralhalfofaseptatedorpartiallyseptateduterus.
Alternatively,thetermcornualpregnancyisusedinterchangeablywith"interstitialpregnancy"todescribean
ectopicgestationimplantedinthefallopiantubeproximalsegmentthatisembodiedwithinthemuscularwallof
theuterus.
Growthrestrictionmayberelatedtoasmalluterinecavityorabnormalvascularizationoftheuterus,with
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resultantuteroplacentalinsufficiency.Theincreasedriskofmalpresentationandoccasionaloccurrenceof
anomaliesinthevaginaarethemainreasonsfortheincreasedriskofcesareandelivery[35].Postpartum
hemorrhagemayresultfromtheplacentabecomingpartiallytrappedinanaccessoryhorn.Pregnancy
associatedhypertensionhasbeenattributedtocoexistentcongenitalrenalabnormalities[34].
Ingeneral,obstetriccomplicationsaremostcommoninwomenwithauterineseptumandleastcommonin
thosewithanarcuateuterus[21,25].However,studiesattemptingtoquantitatetheriskofadverseobstetrical
outcomehaveshownwidelyvaryingresultsandinconsistencies.
RecurrentpregnancylossManywomenhavenormalreproductivehistoriesinspiteofmlleriananomalies
however,thereappearstobeahighrateofrecurrentfirstandsecondtrimesterabortion[11,36,37].Because
therehavebeennogoodprospectivestudiesonwomenwithvariousuterineanomaliesandtheirreproductive
outcome,itisdifficulttoknowwhatthetrueriskofspontaneousabortionisforthesewomen.Areview
includingover4500womenwithrecurrentpregnancylossfound13percenthadauterineanomaly[11].(See
"Definitionandetiologyofrecurrentpregnancyloss".)
PretermdeliveryAnincreasedincidenceofprematurebirthsmaybeexplained,atleastinpart,bythe
decreasedsizeoftheuterinecavity,especiallyintheunicornuateuteri.(See"Riskfactorsforpretermlabor
anddelivery".)Routinecerclageisnotrecommendedinallwomenwithuterineanomaliesstandardindications
forcerclageplacementarefollowed.(See"Cervicalinsufficiency".)
Oneseriesreportedpregnancyoutcomein42womenwithuterineanomalies(5unicornuate,61bicornuate,25
septate,10didelphic)and101pregnanciesmanagedinhighriskpregnancyclinics[33].Termpregnancywas
achievedin60percentoftheunicornuateanddidelphysgroups,39percentofthebicornuategroup,and48
percentoftheseptategroup.Pretermlaborrequiringtocolysisoccurredin21percentofbicornuateand15
percentofseptateuteriand5percentofwomenwithbicornuateuterirequiredcerclage.Fetalsurvivalin
womenwithbicornuateandseptateuteribeforeandafterhighriskpregnancycarewassimilar,approximately
50to60percent.Therefore,thecureforthesepoorobstetricoutcomesdoesnotseemtolieinmoreintensive
pregnancymanagement.Theefficacyofsurgeryforloweringtherateofpretermbirthhasalsonotbeen
established[38].
Inaddition,aliteraturereviewofpregnancyoutcomesinwomenwithuntreateduterineanomaliesreportedthe
followingpercentagesofpregnanciesthatresultedinabortion/pretermdelivery/termdelivery:unicornuate
(37/16/45),didelphys(32/28/36),bicornuate(36/23/41),septate(44/22/33),andarcuate(26/8/63)[11].
MalpresentationUterineanomaliesareassociatedwithanincreasedriskoffetalmalpresentations,suchas
breechpresentation[35].However,mostbreechpresentingfetusesoccurinwomenwithnormaluteri.
UterineruptureTheestimatedincidenceofarudimentaryhornpregnancyis1inover100,000pregnancies
[39].Uterineruptureand/orplacentalattachmentabnormalities(eg,increta,percreta)areassociatedwith
pregnanciesinanobstructedorrudimentaryuterinehorn[15,20,4045].Asanexample,astudyof328
pregnanciesinobstructedhornsfoundthatonly1percentofsuchpregnancieswerealiveattermand89
percentofthehornsruptured[40].Bothspontaneousruptureandruptureinassociationwithlabororinduction
havebeenreported.Thus,suchpregnanciesshouldbeimmediatelyterminated.Oneapproachistouseboth
systemicmethotrexateandlocalinjectionofpotassiumchloridetostopthegrowthofthepregnancy.
Laparoscopicresectionoftherudimentaryhornshouldbeperformed.
DIAGNOSIS
OverviewManyanomaliesareinitiallydiagnosedorsuspectedbaseduponpresentingsymptoms(pain,
pelvicmass,dysmenorrhea,dyspareunia,infertility,orrecurrentpregnancyloss)[46].Adiagnosisofa
structuraluterineabnormalitymaybedefinedathysterosalpingographyduringaninfertilityevaluationorby
ultrasonographyforanevaluationofpelvicpainoramass,additionalstudiesareoftenrequiredfordefinitive
diagnosis[47].
Ultrasoundexamination(transabdominal,transvaginal,ortransperineal)canbehelpfulinidentifyingthe
anatomiccausesofreproductivetractanomalies[4853].Traditionally,magneticresonanceimaging(MRI)has
beenconsideredthe"goldstandard"fordiagnosinganomaliesofthereproductivetract[5457].However,a
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normalunestrogenizedprepubertaluterusissmallandmaybedifficulttoimageevenwithMRIthisoftenleads
toaninappropriatediagnosisofuterineagenesis.MRIisveryusefulindeterminingthepresenceorabsenceof
acervixinacomplexanomaly,orthepresenceoffunctioningendometriuminthecaseofanoncommunicating
obstructedrudimentaryuterinehorn.MRImaynotbeabletoidentifyarudimentaryuterinehornifitislocated
laterallyalongthepsoasmuscleandpelvicsidewall[58].
AlthoughMRIhashistoricallybeenconsideredthegoldstandardfordiagnosisofstructuralabnormalities,other
modalitiesmaybeusefulforevaluation.Ahysterosalpingogram,performedonanoutpatientbasiswiththeuse
offluoroscopy,canbehelpfulindeterminingthepatencyandpossiblecomplexcommunicationsincasesof
genitaltractanomalies[56].Sonohysterographyand3dimensional(3D)ultrasoundhavealsobeenshownto
behelpful[59,60].3Dultrasoundisnoninvasive,highlyaccurate,andabletoprovidedetailedimagesof
uterineanatomy.
Incasesofcomplicatedmlleriananomalies,additionalinformationmayalsobeobtainedbyexaminationwith
thepatientunderanesthesia,vaginoscopy,laparoscopy,and/orhysteroscopy.However,theseproceduresare
requiredlessfrequentlybecauseoftheradiologicadvancesdescribedabove[56,61].
Thesensitivity,specificity,andpositiveandnegativepredictivevaluesofthedifferingtechniquesfordiagnosis
ofuterineanomalieshavenotbeendeterminedinlarge,comparativeseries.
Inonesmallseries,16womenwithclinicallyorhysterosalpingographicallysuspectedcongenital
mulleriandefectsunderwentsonographicexamination,magneticresonanceimaging,diagnostic
laparoscopy,andhysteroscopy[62].Abnormalitiesincludedunicornuate(n=2),bicornuate(n=6),and
septate(n=6)uteri,andnormaluteriwithseptatevagina(n=2).Sonographyandmagneticresonance
(MR)imaginghadanoverallsensitivityof57and77percent,specificityof50and33percent,positive
predictivevalueof89and83percent,andnegativepredictivevalueof14and25percent,respectively,
forallanomalies.SonographyandMRimagingcorrectlydiagnosedseptateuterusin2/6and3/6cases,
respectivelybicornuateuterusin6/6and5/6cases,respectivelyandunicornuateuterusin0/2and2/2
cases,respectively.
Inanotherserieshowever,MRimagingalloweddiagnosisof24of24cases,andsonographywas
correctin11of12cases,whileHSGwascorrectinonlyfourcases[56].
Differencesintheseresultsrelate,inpart,tothetypesofanomaliesbeinginvestigated.
HysterosalpingogramHysterosalpingography(HSG)isanimportanttooltoevaluateuterineandtubal
causesofinfertility.Thisprocedureentailsinjectingradiopaquedyeslowlythroughacannula(eg,Jarcho
cannula,HSGcatheter)inthecervicalcanalandtakingradiographicfilmsasthedyefillstheuterinecavityand
fallopiantubesandthenspillsfromthetubesintotheperitonealcavity[63].Thefirstfilmshouldbetakenafter
injectionofasmallamountofdye(eg,2mL)tolookforsmallfillingdefects,suchaspolypsandfibroids.In
general,hysterosalpingogramsareperformedaftermensesinthefollicularphasetominimizethepossibilityof
anearlypregnancy.Thebestimagesareobtainedusingfluoroscopywithimageintensification,bypositioning
theuterusaxially,bywithdrawingthespeculumsoasnottoobscurethecervix,andbynotinjectingtoomuch
ortoolittledye.
Anonsteroidalantiinflammatoryagent(eg,ibuprofen600to800mg)shouldbetakenonehourpriortothe
proceduretodiminishpatientdiscomfortandprophylacticantibioticsareadministered(eg,doxycycline100mg
BIDforthreedaysstartingthedaypriortotheprocedure)toreducetheriskofinfection.
Hysterosalpingographyisanexcellentmethodofevaluatingtheuterinecavitytoassistindiagnosisofauterine
anomaly.However,definitivediagnosisoftenrequirestheevaluationoftheexternaluterinecontour,whichis
poorlydefinedbyHSG.
UltrasonographySonographyisusefulforevaluatingthekidneys,detectinghematometraorhematocolpos,
andforconfirmingthepresenceofovariesinwomenwithprimaryamenorrhea.Italsoprovidesinformation
aboututerinecontour,internalandexternal.Performingtheexaminationinthesecretoryphaseofthemenstrual
cycleimprovesvisualizationoftheendometrium.Auterineanomalyshouldbesuspectediftheendometrial
echoisseparatedbyalongitudinaldivisionfromthefundustowardsthecervixoriftheinterstitialportionofone
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oftheFallopiantubescannotbeidentified.Thesefindingssuggestduplicationoragenesis,respectively.
Salineinfusionsonohysterographyisparticularlyeffectivefordelineatingtheintracavitaryspaceandstructures.
(See"Salineinfusionsonohysterography".)
ThreedimensionalultrasoundThreedimensionalultrasoundexaminationcanvisualizetheuterine
cavity,myometrium,andtheexternalcontouroftheuterusinasingleimage,suchasacoronalview.Itisa
noninvasive,reproducible,reliablemethodofdifferentiatingtheseptatefromthebicornuateuteri[21,53,6466].
MagneticresonanceimagingAdvantagesofMRIarethatitcanprovideexcellentdelineationofboth
internalandexternaluterinecontourswithoutexposuretoionizingradiationoraninvasiveprocedure.MR
imaginghasbeenshowntobebothsensitiveandspecificandisclearlylessinvasivethanlaparoscopy,which
wasconsideredthegoldstandardfordiagnosisofanomalies[56].Inthepast,laparoscopywasessentialin
assigningtheproperclassificationofauterineanomaly,especiallyindistinguishingtheindentedfundusofa
bicornuateuterusfromthesmoothorflatfundusofaseptateuterus.
However,MRIcandeterminethecontourofthefundus,aswellasmeasuretheintercornualdiameter(greater
thanfourcentimeterssuggestsabicornuate/didelphysuterusandlessthantwocentimeterssuggestsa
septateuterusmeasurementsof2to4cmareindeterminate),distinguishbetweenthemyometrialseptumofa
bicornuateuterusandthefibrousseptumofaseptateuterus,andvisualizetheextentoftheseptuminboth
anomalies[67].MRimagingmayalsobehelpfulindetectingauterinehornandvisualizinganendometrial
stripe.UseofcontrastagentsforMRIhasnotbeenstudiedorshowntobeofbenefitforimagingoftheuterus.
SUMMARYANDRECOMMENDATIONS
Theincidenceofcongenitaluterineanomaliesisdifficulttodeterminesincemanywomenwithsuch
anomaliesarenotdiagnosed,especiallyiftheyareasymptomatic.Uterineanomaliesoccurin2to4
percentofinfertilewomenandfertilewomenwithnormalreproductiveoutcomes.Theincidenceishigher,
however,amongwomenwithrecurrentfirsttrimestermiscarriageorlatefirsttrimestersecondtrimester
miscarriage/pretermdelivery.(See'Incidence'above.)
Theunderlyingetiologyofcongenitalmlleriandefectsisnotwellunderstood.Thekaryotypeofwomen
withtheseanomaliesisusuallynormal.(See'Etiology'above.)
Signsandsymptomssuggestiveofauterineanomalyincludedysmenorrhea,menstrualabnormalities
(amenorrhea,hypomenorrhea),hematocolpos,andrecurrentmiscarriageorpretermdelivery.Theabilityto
achieveaclinicalpregnancyisnottypicallyimpaired.(See'Clinicalmanifestations'above.)
Eithertwodimensionalultrasonographyorhysterosalpingographyisanacceptablefirstlinescreening
tool.Theadvantageofultrasonographyisthatitcanalsobeusedtoassesstheadnexaandkidneys,
whilehysterosalpingographyprovidesinformationaboutfallopiantubepatency.Salineinfusion
sonohysterographyandhysterosalpingographybothdelineatetheuterinecavitywell.(See'Diagnosis'
above.)
Whereavailable,magneticresonanceimagingand/orthreedimensionalultrasonographyarethebest
noninvasivemeansofdiagnosinguterineanomalies.Thesetwomodalitieshavenotbeenevaluatedin
comparativestudies.(See'Magneticresonanceimaging'above.)
Womenwithuterineanomaliesshouldbeevaluatedbyultrasonographyforcoexistentrenalabnormalities.
(See'Ultrasonography'above.)
UseofUpToDateissubjecttotheSubscriptionandLicenseAgreement.
Topic5418Version12.0
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GRAPHICS
Femalegenitaltractanomalies:ESHREESGEclassificationsystem
ESHRE/ESGEclassificationofuterineanomalies:schematicrepresentation.(ClassU2:
internalindentation>50percentoftheuterinewallthicknessandexternalcontourstraight
orwithindentation<50percentClassU3:externalindentation>50percentoftheuterine
wallthicknessClassU3b:widthofthefundalindentationatthemidline>150percentof
theuterinewallthickness.)
ESHRE:EuropeanSocietyofHumanReproductionandEmbryologyESGE:EuropeanSocietyfor
GynaecologicalEndoscopy.
Reproducedwithpermissionfrom:GrimbizisGF,GordtsS,DiSpiezio,etal.TheESHRE/ESGE
consensusontheclassificationoffemalegenitaltractcongenitalanomalies.HumReprod2013
28(8):2032.CopyrightTheAuthor2013.PublishedbyOxfordUniversityPressonbehalfofthe
EuropeanSocietyofHumanReproductionandEmbryology.
Graphic95637Version1.0
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Femalegenitaltractanomalies:ESHREESGEclassificationsystem
Schemefortheclassificationoffemalegenitaltractanomaliesaccordingtothenew
ESHRE/ESGEclassificationsystem.
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ESHRE:EuropeanSocietyofHumanReproductionandEmbryologyESGE:EuropeanSocietyfor
GynaecologicalEndoscopy.
Reproducedwithpermissionfrom:GrimbizisGF,GordtsS,DiSpiezio,etal.TheESHRE/ESGEconsensus
ontheclassificationoffemalegenitaltractcongenitalanomalies.HumReprod201328(8):2032.
CopyrightTheAuthor2013.PublishedbyOxfordUniversityPressonbehalfoftheEuropeanSociety
ofHumanReproductionandEmbryology.
http://www.uptodate.com.ezproxy.ugm.ac.id/contents/clinicalmanifestationsanddiagnosisofcongenitalanomaliesoftheuterus?topicKey=OBGYN%
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ClassificationofMlleriananomaliesaccordingtotheAmerican
FertilitySocietyclassificationsystem
TypeI:"Mllerian"agenesisorhypoplasia
A.Vaginal(uterusmaybenormalorexhibitavarietyofmalformations)
B.Cervical
C.Fundal
D.Tubal
E.Combined
TypeII:Unicornuateuterus
A1a.Communicating(endometrialcavitypresent)
A1b.Noncommunicating(endometrialcavitypresent)
A2.Hornwithoutendometrialcavity
B.Norudimentaryhorn
TypeIII:Uterusdidelphys
TypeIV:Uterusbicornuate
A.Complete(divisiondowntointernalos)
B.Partial
C.Arcuate
TypeV:Septateuterus
A.Complete(septumtointernalos)
B.Partial
TypeVI:Diethylstibestrolrelatedanomalies
A.Tshapeduterus
B.Tshapedwithdilatedhorns
Reproducedwithpermissionfrom:AmericanFertilitySociety(AFS).
TheAmericanFertilitySocietyclassificationsofadnexaladhesions,distaltubalocclusionsecondaryto
tuballigation,tubalpregnancies,Mlleriananomaliesandintrauterineadhesions.FertilSteril
198849:944.Copyright1988AmericanSocietyforReproductiveMedicine.
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Mullerianuterineanomalies
Reproducedwithpermissionfrom:TheAmericanFertilitySocietyclassifications
ofadnexaladhesions,distaltubalocclusion,tubalocclusionsecondarytotubal
ligation,tubalpregnancies,mulleriananomaliesandintrauterineadhesions.
FertilSteril198849:944.Copyright1988AmericanSocietyfor
ReproductiveMedicine.
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Acienclassificationofgenitaltractanomalies
Agenesisorhypoplasiaoftheentireurogenitalridge
Unicornuateuteruswithuterine,tubal,ovarian,andrenalagenesisonthecontralateralside
MesonephricanomalieswithabsenceofbothopeningoftheWolffian
ducttotheurogenitalsinusandureteralbudsproutingleadingto
uterovaginalduplicityandablindhemivaginaipsilateralwithrenal
agenesis:
Unilateralhematocolpos
Gartner'spseudocystontheanterolateralwallofthevagina
Partialreabsorptionofintervaginalseptum
Vaginalorcompletecervicovaginalunilateralagenesis,ipsilateralwiththerenalagenesis,and
(1)withnocommunication,or(2)withcommunicationbetweenbothhemiuteri
IsolatedMlleriananomalies:
Mllerianducts:unicornuate(generally,withrudimentaryuterinehorn),bicornuate,septate
anddidelphysuterus.
Mlleriantubercle:cervicovaginalatresiaandsegmentaryanomaliessuchastransverse
vaginalseptum.
Mlleriantubercleandducts:(uniorbilateral)MayerRokitanskyKusterHausersyndrome.
Anomaliesoftheurogenitalsinus:
Cloacalanomaliesetc.
Malformativecombinations:
Wolfian,Mllerianandcloacalanomalies.
AdaptedfromAcien,P,Acien,M,SanchezFerrer,M.HumanReproduction200419:2377.
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Septateuterus:partial
Reproducedwithpermissionfrom:PediatricandAdolescentGynecology,6th
ed,EmansSJ,LauferMR(Eds),LippincottWilliams&Wilkins,Philadelphia
2012.Copyright2012LippincottWilliams&Wilkins.www.lww.com.
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Uterusbicornuate:Complete(divisiondownto
internalos)
Image
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Septateuterus:complete(septumtoexternalos)
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Septateuterus:completewithassociatedvaginal
septum
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Uterusbicornuate:arcuate
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Hysterosalpingogramofarcuateuterus
CourtesyofRobertLBarbieri,MD.
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Unicornuateuterus
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Unicornuateuteruswithuterinehorn(not
containinganendometrialcavity)notfusedto
unicornuateuterus
Image
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Unicornuateuteruswithuterinehorn(not
containinganendometrialcavity)fusedto
unicornuateuterus
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Unicornuateuteruswithnoncommunicating
uterinehorn(containinganendometrialcavity)
notfusedtounicornuateuterus
Reproducedwithpermissionfrom:LauferMR.Structuralabnormalitiesofthe
femalereproductivetract.In:Pediatricandadolescentgynecology,6thed,
EmansSJ,LauferMR,GoldsteinDP(Eds),LippincottWilliams&Wilkins,
Philadelphia2012.Copyright2012LippincottWilliams&Wilkins.
www.lww.com.
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Unicornuateuteruswithnoncommunicating
uterinehorn(containinganendometrialcavity)
fusedtounicornuateuterus
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Unicornuateuteruswithcommunicatinguterine
horn
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Uterusbicornuate:partial
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Uterusdidelphys,bicollis,withnormalvagina
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Uterusdidelphys,bicollis,withcompletevaginal
septum
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Didelphusuterus
Thetwocervicesareeasilyvisualizedinthishysterectomyspecimen.
Bothtubesandovariesarepresent,aswellasanintraligamentous
leiomyoma(rightsideofphotograph).
Reproducedwithpermissionfrom:RobertMLellan,MDandAronSchuftan,
MDLaheyClinicFoundation.CopyrightRobertMcLellan,MDandAron
Schuftan,MD.
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Doublecervix
(AandB)Twocervicesareshowninsitu.Therugatedvaginalwallscanbeseen
laterally.
ReproducedwithpermissionfromtheSurgicalPlanningLaboratoryatHarvardMedicalSchool.
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Uteruswithtwocervices(bicollis)
Twocervicalosfromuterusdidelphysarevisible(arrows).
Reproducedwithpermissionfrom:PediatricandAdolescentGynecology,6thed,
EmansSJ,LauferMR(Eds),LippincottWilliams&Wilkins,Philadelphia2012.
Copyright2012LippincottWilliams&Wilkins.www.lww.com.
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Uterusdidelphyswithobstructedhemivaginawith
ipsolateralrenalagenesis
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Uterusdidelphys,bicollis,withcompleteupper
vaginalseptumwithbilateralobstruction
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Diethylstilbestrol(DES)relatedanomalies:T
shapeduterus
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shapeduterus
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shapeduterus
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