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OvotesticularDisorderofSexualDevelopment:Background,Pathophysiology,Epidemiology

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OvotesticularDisorderofSexualDevelopment
Author:MolinaBDayal,MD,MPHChiefEditor:RichardScottLucidi,MD,FACOGmore...
Updated:Dec17,2014

Background
Ovotestisreferstothehistologyofagonadthatcontainsbothovarianfolliclesand
testiculartubularelements.Suchgonadsarefoundexclusivelyinpeoplewith
ovotesticulardisorderofsexualdevelopment(OTDSD),formerlyknownastrue
hermaphroditism.Thosediagnosedwiththisrareconditionrepresentasmall
fractionofpatientswithinthediagnosticcategoryofthedisordersofsexual
development(DSD),formerlyknownasintersex.WithinthespectrumofDSD,there
arevaryingdegreesofdiscordantgenitaliatosexchromosomes.AdiagnosisofOT
DSDisbasedsolelyonthepresenceofovarianandtesticulartissueinthegonad
andnotonthecharacteristicsoftheinternalandexternalgenitalia,evenif
ambiguous.

Pathophysiology
Peoplewithovotesticulardisorderofsexualdevelopmentareindividualswhohave
bothovarianandtesticulartissue.Thisdiagnosticnomenclatureisapplied
regardlessoftheperipheralkaryotype.Thegonadsmaybeovotestis,ortheymay
beacombinationofanovaryononesideandatestisorovotestisontheother.
Ovotestesareusuallycompartmentalized,withconnectivetissueseparatingthe
ovariancomponentsfromthetesticularcomponents.However,onrareoccasions,
anintermixtureoftheseelementsmayoccur.Additionally,testicularandovarian
tissuemaydeveloponthesamesideofthepelvisasaseparateovaryandtestis.
Ovotestesarethemostfrequentgonadpresent(60%),followedbytheovaryand
thenthetestis(9%).Theovotestistendstobeanatomicallylocatedinanovarian
position,inthelabioscrotalfold,intheinguinalcanal,orattheinternalinguinalring.
Ovaries,whenfound,canoccupythenormalabdominalposition,althoughtheymay

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OvotesticularDisorderofSexualDevelopment:Background,Pathophysiology,Epidemiology

occasionallybefoundattheinternalinguinalring.Interestingly,ovariesoccurmore
commonlyontheleftsidethantheright.Thereasonforthispredilectionis
unknown.Testesareusuallyfoundinthescrotum,althoughtheycanbefoundat
anylevelalongthepathofembryonicdescentfromabdomentoscrotum,frequently
presentingasinguinalhernias.
Ovariesandovarianportionsofovotestesappearnormalanddemonstratefollicular
growthwithestradiolproduction.Approximately50%ofovotestesshowevidenceof
ovulation.Thepresenceofestradiolindevelopingovarianfolliclesusuallyinhibits
spermatogoniadevelopmentinadjacentorcontralateralseminiferoustubules.
Degenerationandhyalinizationoftheseminiferoustubuleswithpoorgermcell
developmentisfrequentlyobserved.Inalldocumentedbiopsiedcases,thereisa
significantdeclineingermcelldevelopmentandanincreaseintubularsclerosisby
puberty.Leydigcellhyperplasiamayalsooccurwithaging.Spermatogenesisin
testisandovotestisisrare.
Internalductdevelopmentusuallycorrespondstotheadjacentgonad.Many
patientswithovotesticulardisorderofsexualdevelopmenthaveauterus.Mllerian
ductstructurestypicallydeveloponthegonadside(s)notcontainingtesticular
tissue.Wolffianductstructurestendtobeobservedonthegonadside(s)containing
functioningtesticulartissue.
PeoplewithOTDSDarebornwithambiguousgenitalia.Mostaffectedindividuals
arerearedasmalesduetothesizeofthephallus.Mosthavevaryingdegreesof
labioscrotalfusionand/orhypospadias.However,becauseoffunctioningnormal
ovariantissue,mostpeopleexperiencebreastdevelopmentatpuberty,and
approximatelytwothirdsofthosewitha46,XXperipheralkaryotypemenstruate. [1]

Epidemiology
Frequency
International
Ovotesticulardisorderofsexualdevelopmentisararecondition.Mostcaseshavea
sporadicdistribution,althoughthereareafewdocumentedcasesoffamilial
recurrence.Genitalambiguityoccursin1in4,500births,andovotesticulardisorder
ofsexualdevelopmentoccursinfewerthan10%ofalldisordersofsexual
development.Morethan400caseshavebeenreportedworldwide. [2]

Mortality/Morbidity
Asidefromthephysicalandemotionalconsequencesassociatedwithgenital
ambiguity,patientswithtruehermaphroditismusuallydonotpossessother
developmentalmalformations.Theseindividualsusuallypossessaverage
intelligenceandingeneralhaveanormallifeexpectancy.
Neoplasia
Gonadaltumorswithmalignantpotentialoccurin2.6%ofallcasesof
ovotesticulardisorderofsexualdevelopment.Thetestisortesticular
componentofanovotestisislikelytobedysgeneticdysgerminomas,
seminomas,gonadoblastomas,andyolksaccarcinomashaveall
beenreported.
Thosewiththe46,XYkaryotypeareatthegreatestriskofdeveloping
agonadalmalignancy.Benigntumors,includingmucinous
cystadenomas,benignteratomas,andBrennertumors,havealso
beenreported.
Ifatestisislocatedinthescrotum,maintainingrigorousfollowup
withsonographyand/orpelvicMRIisprudent,andabiopsyafter
pubertyisindicatedtodetectearlypremalignantormalignant
transformation.
Onecasereportofa47yearold46,XX/46,XYwomanwitha
malignantphyllodestumorintherightbreastandaninvasivelobular
carcinomaintheleftbreastsuggestsamodifiedbreastcancerrisk
similartothatobservedinKlinefeltersyndrome. [3]
Anothercasereportedaninvasivesquamouscellcarcinomaofthe
vagina,servingasareminderthatmalignantchangescanoccurin
residualmlleriantissue. [4]
Obstructedgenitaltract:Cryptomenorrhea,hematometra,andlower
abdominalpainassociatedwithendometriosismayoccurinindividualswith
cervicalatresiaorotherformsofmllerianductanomalies.
Herniasandcryptorchism:Becauseofmalpositionofthegonads,gonadal
torsion,andassociatedductstructures,avarietyoforganshavebeen
encounteredwithintheinguinalcanal,andinguinalherniasareacommon
occurrence.Complicationsassociatedwithundescendedorpartialtesticular
descentalsomaybeencountered.

Race
Geographicvariationhasbeennoted,withthehighestincidenceoccurringinthe
blackpopulationofsouthernAfrica.

Age
Despitethefactthatmostpeoplewithtruehermaphroditismpresentwithgenital
ambiguity,lessthan20%arediagnosedbeforeage5years.Seventyfivepercent
arediagnosedbyage20years.
ClinicalPresentation

ContributorInformationandDisclosures
Author
MolinaBDayal,MD,MPHPhysician,SherInstitute,StLouisFertilityClinic

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OvotesticularDisorderofSexualDevelopment:Background,Pathophysiology,Epidemiology

MolinaBDayal,MD,MPHisamemberofthefollowingmedicalsocieties:AmericanCollegeofObstetricians
andGynecologists,AmericanSocietyforReproductiveMedicine,SocietyforReproductiveEndocrinologyand
Infertility
Disclosure:Nothingtodisclose.
Coauthor(s)
CandiceBO'Hern,MDResidentPhysician,DepartmentofObstetricsandGynecology,GeorgeWashington
UniversityHospital
CandiceBO'Hern,MDisamemberofthefollowingmedicalsocieties:AmericanCollegeofObstetriciansand
Gynecologists,AmericanMedicalAssociation
Disclosure:Nothingtodisclose.
ChiefEditor
RichardScottLucidi,MD,FACOGAssociateProfessorofReproductiveEndocrinologyandInfertility,
DepartmentofObstetricsandGynecology,VirginiaCommonwealthUniversitySchoolofMedicine
RichardScottLucidi,MD,FACOGisamemberofthefollowingmedicalsocieties:AmericanCollegeof
ObstetriciansandGynecologists,AmericanSocietyforReproductiveMedicine
Disclosure:Nothingtodisclose.
Acknowledgements
ADavidBarnes,MD,PhD,MPH,FACOGConsultingStaff,DepartmentofObstetricsandGynecology,
MammothHospital(MammothLakes,California),PioneerValleyHospital(SaltLakeCity,Utah),WarrenGeneral
Hospital(Warren,Pennsylvania),andMountainWestHospital(Tooele,Utah)
ADavidBarnes,MD,PhD,MPH,FACOGisamemberofthefollowingmedicalsocieties:AmericanCollegeof
ForensicExaminers,AmericanCollegeofObstetriciansandGynecologists,AmericanMedicalAssociation,
AssociationofMilitarySurgeonsoftheUS,andUtahMedicalAssociation
Disclosure:Nothingtodisclose.
FranciscoTalavera,PharmD,PhD,AdjunctAssistantProfessor,UniversityofNebraskaMedicalCenterCollege
ofPharmacyEditorinChief,MedscapeDrugReference
Disclosure:MedscapeReferenceSalaryEmployment

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