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International Journal of Surgery Case Reports
j o ur na l h o m e p a g e :w w w . c a s e r e p o r t s . c o m
A rare case of multiple leiomyomas on rudimentary uterus in a woman with Mayer Rokitansky Kuster Hauser (MRKH) syndrome:
A challenging diagnosis and laparoscopic approach
Achmad Kemal Harzif
a,∗,1, Sonia Ambalagen
b,∗, Fistyanisa Elya Charilda
c, Heidi Dewi Mutia
caDivisionofReproductiveImmuno-Endocrinology,DepartmentofObstetricsandGynecology,FacultyofMedicineUniversitasIndonesia,Dr.Cipto MangunkusumoHospitalJakarta,Indonesia
bDepartmentofObstetricsandGynecology,Dr.CiptoMangunkusumoHospitalJakarta,FacultyofMedicineUniversitasIndonesia,PangeranDiponegoro StreetNo.71,Kenari,Jakarta,Indonesia
cIndonesianReproductiveMedicineResearchandTrainingCenter(INA-REPROMED),FacultyofMedicineUniversitasIndonesia,Dr.CiptoMangunkusumo HospitalJakarta,PangeranDiponegoroStreetNo.71,Kenari,CentralofJakarta,10430,Indonesia
a rt i c l e i nf o
Articlehistory:
Received3February2021
Receivedinrevisedform22February2021 Accepted22February2021
Availableonline4March2021
Keywords:
MayerRokitanskyKusterHauser(MRKH) syndrome
Multipleleiomyomas Rudimentaryuterus Laparascopic Casereport
a b s t ra c t
MayerRokitanskyKusterHauser(MRKH)syndromeisacongenitaldisorderinvolvingreproductive,gen- itourinary,bone,andcardiacmalformation.Theincidenceis1in4000–5000femaleslivebirths.The phenotypeisfemale46XXkaryotype,normalsecondarysexualcharacteristics,andnormalfunctional ovaries.TheoccurrenceofleiomyomainuterineremnantinMRKHsyndromeisaveryrarecase,even thoughseveralcaseshavebeenreported.Thediagnosisandmanagementapproach,inthiscase,is quitechallenging.Here,wereporta38yearsoldfemalewhorepresentsmultipleleiomyomasonthe rudimentaryuterus,thenwedidlaparoscopicremovalofthefibroidsandadjacentrudimentaryuterus.
©2021PublishedbyElsevierLtdonbehalfofIJSPublishingGroupLtd.Thisisanopenaccessarticle undertheCCBY-NC-NDlicense(http://creativecommons.org/licenses/by-nc-nd/4.0/).
1. Introduction
Mayer-Rokitansky-Kuster-Hauser(MRKH)syndromeisacon- genitaldisorderthatoccursinfemalesandaffectsthereproductive organs.Thisconditionappearsasunderdevelopmentorabsence oftheuppervagina,cervix,anduterus,buttheexternalgenitalia isnormal[1].Mostlythisconditionundetectabletillthegirlhas pubertybecausethisconditionprimarilycausesprimaryamenor- rheawithnormaldevelopingsecondarysexualcharacteristics,as theovariesarepresentandfunctional[1,2].Thissyndromeisquite uncommon,withanincidenceofonein4000–5000femalebirths, andisthesecondmostfrequentcauseofprimaryamenorrhea.The patientsalwayspresentkaryotype46,XX[2].
∗Correspondingauthor.
E-mailaddresses:[email protected](A.K.Harzif), [email protected](S.Ambalagen),fi[email protected] (F.E.Charilda),[email protected](H.D.Mutia).
1 DivisionofReproductiveImmuno-Endocrinology,DepartmentofObstetricsand Gynecology,FacultyofMedicineUniversitasIndonesia,Dr.CiptoMangunkusumo HospitalJakarta,PangeranDiponegoroStreetNo.71,Kenari,CentralofJakarta, 10430Indonesia.
Thissyndromeisclassifiedintothreetypes accordingtothe involvementofstructuresotherthantheonesrelatedtorepro- ductiveorgans.ThemostcommononeistypeI,representedby abnormalitiesrestrictedtoreproductiveorgans.Thesecondoneis TypeIIisatypical,withthepresenceofsymmetricuterineremnants andabnormaluterinetubes,mostlyassociatedwithovariandis- ease,congenitalrenal,boneabnormalities,andhearingdefects.The thirdoneiscalledasMURCStype,involvinguterovaginalhypopla- siaoraplasia,renal,bone,andcardiacmalformations.Theetiology ofthissyndromeisnotfullyunderstood,andenvironmentaland geneticfactorsarethoughttoplayarole[1–3].
Myomasorfibroidsarerathercommonbenignlesionsinthe normaluterusthatcanarisefromtheremnantuterus.Theoccur- renceofmyomaarisingfromtherudimentaryuterusisaveryrare findingandonlyafewcaseshavebeenreported.Diagnosisandfur- thermanagementarechallengingconditionstotreatthiscondition [4].
Here,werepresent a38 yearsold woman,forthefirst time diagnosedMRKHsyndromeconcurrentwithmultipleleiomyomas.
Informedconsentwasobtainedfrompatient’ssubjecttoreportthis case.ThiscasereportwasreportedinlineSCARE2020criteria[5].
https://doi.org/10.1016/j.ijscr.2021.105711
2210-2612/©2021PublishedbyElsevierLtdonbehalfofIJSPublishingGroupLtd.ThisisanopenaccessarticleundertheCCBY-NC-NDlicense(http://
creativecommons.org/licenses/by-nc-nd/4.0/).
2. Casepresentation
A38yearsoldwomanpresentedtoourEndocrinologyClinicfor abdominalpain.Uponprimaryclinicalassessment,shereported primary amenorrheaand primary infertility, which have never beenevaluated.Otherwise,herpreviousmedicalandsurgicalwere unremarkable.Herfamilyhistorywasnegative.For3years,shehas beenfeltabdominalpain,ascaleof6,andwastreatedwithanal- gesics.Thereisnohistoricalpastillness. Thenshewasreferred forfurtherevaluation,found6cmmassonleftovary,suggested surgery,butsherefused.Theabdominalpainanddiscomfortcon- sistentlyoccurred.Nocomplaintregardingsexualintercourse.She didnothavesymptomsrelatedtothebladderorthebowel.Her physical examination showedfemalebody contour andnormal hairpattern.Onpelvicexamination,theexternalgenitaliawasnor- mal.Normalvaginamucosaandtract,unseencervix.Palpablefirm boundarymassonsuprapubicareasize5cm,andonleftadnexa size6cm,mobile.
Transabdominalandtransrectalultrasonographyrevealedmul- tipleuterinefibroidsontherudimentaryuterus,rangingfrom3 cm to5cm(Fig.1).Bothovariesandkidneys werenormal.She wasdiagnosedwithMRKHsyndrome(uterusdysgenesis,proxi- malvaginalagenesis),suggestedforMRIevaluation.Amagnetic resonanceimagingofthepelvisshowedhypoplasticuterus,with multiple subserosal fibroids, one with degenerated fibroids on suprapubic, anteriorlyto thebladder, size 3.1 × 4.8 cm. Other intraabdominalorganswerenormal.
The patient was submitted to a laparoscopic intervention (Fig.2),duringwhichwefoundaband-likeuterinehornstructure, multiplefibroidswerestretchingovertherudimentaryuterus,size rangingfrom6cmto5mm(smallest).Bothovariesandtubeswere normal.Weremovedthewholerudimentaryuterusfollowingall thefibroids.Duringtheoperationthebleedingwasminimal.The histopathology showeduterus dysgenesisand multipleleiomy- omasasshowninFigs.3and4.
3. Clinicaldiscussion
MRKHsyndromeisacongenitaldisorderofafemalereproduc- tivesystem,whichis usuallydiagnosedbyclinicalfindingsand supportedbyimaging.Diagnosisis usuallymadeinadolescents whentheydidnothaveamenstrualperiod(primaryamenorrhea) [3,4].ThetypesofMRKHsyndromevariedfromrestrictedtorepro- ductiveorgansonlyandinvolvedgenitourinary,bone,andcardiac malformation[2].MostpatientshavingMRKHsyndromerequire afunctioningvaginatoimprovetheirqualityofliferegardingthe sexualrelationship.Unlikeourcase,thepatientdoesnothaveany impactonthesexualrelationship.Wemayensurethatthiscondi- tioncausesinfertility,thereforesurrogacyandadoptionweretheir optionsforchildbearing[4].
Weshouldkeepinmindthatshehasnormalfunctioningovaries andfallopiantubes,thereisachanceforgettingthechildfromthe surrogatetechniquebyretrievingtheovum[6].Uterineremnants couldpresentinvaryingsizes,consistoffibromusculartissue,a smallnumberofsmoothmuscles(myometrium),andstromatissue arranginginglands(endometrium).Therefore,itcouldresemble atumorgrowingfromthattissue,mostlyleiomyomas,following the same pathogenicmechanisms asin the normal uterusand actingastargetsfortheovarianhormones.Mostlythesetumors wereasymptomatic(diagnosedaccidentallyduringcheck-up)or cangivesymptomslikechronicpelvicpainordiscomfort[7,8].
Finding a pelvicmass inMRKH casesduringregular clinical andultrasoundexaminationcouldindicateinneedofadiagnostic laparoscopy[7].ArisingleiomyomasonuterineremnantsinMRKH casesisatheoreticalpossibility.However,tillnowadaysthesecases
Fig.1.Rudimentaryuterus(dysgenesis),multipleuterinefibroids(size5cmto3 cm);bothovarieswerenormal.
maybehavebeenreportedrarelyearlier.Thebasicpathogenesis ofleiomyomaisestrogen-dependentgrowthofsmoothmuscles andfibroblastsandhighsensitivitytoitascomparedtonormal myometrium[9].Asthepresentsofendogenousestrogenorexoge- nousestrogencouldbethemainproblemtodevelopleiomyoma
Fig.2. (A)Showedmultiplefibroidsonuterusremnants,bothovarieswerenormal;
(B)Fallopiantubeswerenormal,largestuterinefibroid;(C)Uterinefibroidsonright horn;(D)Multipleuterinefibroids.
inMRKH.Inthiscase,therewasnoevidenceofexogenousestro- genexposuretothispatient,thenonlyendogenousestrogenmay bethefactor.Arareincidenceofleiomyoma inuterusremnant could be a decreased concentration or sensitivity of the estro- genreceptorsorgeneticpredispositioncomparedtothenormal uteruswithleiomyomas[11]Unfortunately,wecouldnotperform receptorstudiestoestablishtheexactpathogenesis.Laparoscopic removalasafirst-lineapproachwasindicated.Removingthemul- tiplefibroidsandadjacentuterusremnantwerethebestchoicefor today[12,13].Severalstudiesreportedthesecases,mostofthem usingthelaparoscopicapproachfordiagnosingandtreating.Oth- erwise,laparotomycanbedoneinlowresourcesareas,voluminous uterus,andmasseswhichmightbealimitationtodoalaparoscopy.
Otherthanthat,asuspectformalignancyinleiomyomacouldhap- peninthiscaseasinanormaluterus,eventhoughthepossibility isquitelow[14].Therefore,removingallthemassesandadjacent
Fig.3.Histopathologyresult:(A)myometriumtissue:smoothmusclesinuterine fibroids(40X);(B)Proliferationofsmoothmuscles,irregularpattern(400X);(C)No myototicactivity.
remnantsisstrictlyrequired.Theotheradvantagesofthelaparo- scopicapproachareclearvisualizationofadjacentpelvicorgans, mostlygenitourinarysystem(bladder,ureters)[12,14,15].
Differentialdiagnosisofleiomyomaoftherudimentaryuterus inMRKHsyndromeisovarianfibroma,GIST(gastrointestinalstro- maltumor),extravesicalleiomyomaoftheurinarybladder[15].
Othercaseshavebeenreportedthatuterineadenomyosiscanbe representedinanormaluteruswhichmaybeduetodirectinva- sionofuterinemucosaintouterinemusculatureascomparedto therudimentaryuterus,thistheorycouldnotbeapplied.Meta- plasiaofthestromalcellsundertheinfluenceofautocrinefactors orparacrinefactorswhichareintermediariesofgenetic,immuno- logic,andendocrineinfluencescanleadtoformingadenomyosisin MRKHsyndrome[10].
Fig.4.Histopathologyresult:(A)Stromaltissueinrudimentaryuterus,proliferationofglands∼endometrium(100X);(B)dysgenesistissue,dominantwithfibromuscular tissue,scantyglandsandsmoothmuscles(100X);(C)Fibromusculartissue,interlacingsmoothmuscles∼myometrium(400X);(D)Stromaltissue,glandsandsmoothmuscles, normalnuclei(400X).
4. Conclusion
WomenwithMRKHsyndromewhopresent withabdominal painandmass,leiomyomaofMullerianremnantshouldbeconsid- eredfordiagnosis.Ultrasonographyisthefirstimagingtoevaluate the pelvic mass and genitourinary system. Magnetic resonance imagingisamoreaccuratemodalitytoconfirmthepelvicmass, andpristinelyevaluatingthegenitourinarysystem(kidney,ureters, bladder),andmaybegivesignsformalignancytendencies.Com- plete removal bylaparoscopic is recommendedto managethis case.
DeclarationofCompetingInterest
Theauthorsdeclaredhavenoconflictsofinteresttodisclose.
Funding
Theauthorshadnosponsorsinvolvedforsourcesoffundingin thisarticle.
Ethicalapproval
Thisstudyisexemptfromethnicalapproval.
Consent
Thepatientwasalreadyinformedwithnodatasuchasnames, initials,andhospitalnumberswouldbepublished.
Authorcontribution
Achmad Kemal Harzif: study concept and design, editing manuscript.
SoniaPriyardashini:datacollection,analysisandinterpretation.
FistyanisaElyaCharilda:writingandeditingmanuscript.
Heidi Mutia Dewi: study concept and design, editing manuscript.
Registrationofresearchstudies NotApplicable.
Guarantor
TheGuarantorwasalsothecorrespondingauthor.
Provenanceandpeerreview
Notcommissioned,externallypeer-reviewed.
Acknowledgment
We would like to thank Hibah PUTI 2020 from Universitas Indonesiathatprovidedgrantinpublishingthiscasereport.
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