Objectives:Auditoryneuropathy(AN)isasensorineuralhearingdisordercharacterizedbyabsentorabnormalauditorybrainstemresponses(ABRs)andnormalcochlearouterhaircellfunctionasmeasuredbyotoacousticemissions(OAEs).Manyriskfactorsarethoughttobeinvolvedinitsetiologyandpathophysiology.ThreeChinesepedigreeswithfamilialANarepresentedhereintodemonstrateinvolvementofgeneticfactorsinANetiology.Methods:Probandsoftheabove-mentionedpedigrees,whohadbeendiagnosedwithAN,wereevaluatedandfollowedupintheDepartmentofOtolaryngologyHeadandNeckSurgery,ChinaPLAGeneralHospital.Theirfamilymemberswerestudiedandthepedigreediagramswereestablished.Historyofillness,physicalexamination,puretoneaudiometry,acousticreflex,ABRsandtransientevokedanddistortion-productotoacousticemissions(TEOAEsandDPOAEs)wereobtainedfrommembersofthesefamilies.DPOAEchangesundertheinfluenceofcontralateralsoundstimuliwereobservedbypresentingasetofcontinuouswhitenoisetothenon-recordingeartoexamthefunctionofauditoryefferentsystem.Somesubjectsreceivedvestibularcalorictest,computedtomography(CT)scanofthetemporalboneandelectrocardiography(ECG)toexcludeotherpossibleneuropathydisorders.Results:Inmostaffectedsubjects,hearinglossofvariousdegreesandspeechdiscriminationdifficultiesstartedat10to16yearsofage.TheiraudiologicalevaluationshowedabsenceofacousticreflexandABRs.AsexpectedinAN,thesesubjectsexhibitednearnormalcochlearouterhaircellfunctionasshowninTEOAE&DPOAErecordings.Pure-toneaudiometryrevealedhearinglossrangingfrommildtosevereinthesepatients.Autosomalrecessiveinheritancepatternswereobservedinthethreefamilies.InPedigreeⅠandⅡ,twoaffectedbrotherswerefoundrespectively,whileinpedigreeⅢ,2sisterswereaffected.Allthepatientswereotherwisenormalwithoutevidenceofperipheralneuropathyatthetimeofth
