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CONGENITALHYPOTHYROIDISMDr.XiaopingLuoProfessorandChairmanDepartmentofPediatricsTongjiHospitalTongjiMedicalCollegeCONGENITALHYPOTHYROIDISMDr.X1iodineactiveiodine+tyrosineMonoIodoTyrosineperoxidasethyroidglandtrapDiIodoTyrosinethyroxine,T4triiodothyronine,T3releasethyroidfollicleepitheliaCthyroglobulintakinginreleaseT4,T3lysosomehydrolyzeTheSynthesesandReleasecouplingiodineactiveiodineMonoIodoTy2HypothalamuspituitarythyroidT4,T3Targetorganscirculation(─)TRHTSHHypothalamuspituitarythyroidT43EtiologyAplasiaandhypoplasia90％themostcommoncauseofCHnothyroidrudimentarythyroidtissueectopiclocationlingualthyroidEtiologyAplasiaandhypoplasia4EtiologyThyrotropindeficiencydefectsofthepituitarydefectsofthehypothalamusidiopathichypothyroidism
EtiologyThyrotropindeficiency5EtiologyThyrotropinunresponsivenessactiveTSHnormal131IuptakeThyroidhormoneunresponsivenessT3T4FT3FT4
EtiologyThyrotropinunresponsi6EtiologyDefectivesynthesisofthyroxine
iodide-trappingdefectiodideorganificationdefectcouplingdefectdeiodinasedefectEtiologyDefectivesynthesisof7ClinicalManifestationsfemale:male=2:1Innewborns
heavieratbirth
prolongedphysiologyicteruspost-termdeliveryClinicalManifestationsfema8ClinicalManifestationsInnewborns
feedingproblem
quitebaby
reluctanttomoveClinicalManifestationsInnewb9ClinicalManifestationsInnewborns
lowtemperaturehorsecryslowresponseslowmusculartensionlowbloodpressureClinicalManifestationsInnewb102WboyBW4.4kg2WboyBW4.4kg11ClinicalManifestationsSpecialfaciesandstate
pallorincreasedheadsizecoolanddryskincoarseandbrittlehairsshortandthickneckClinicalManifestationsSpecial12SpecialfaciesandstateFace:
myxedemafaraparteyesdepressednosebridgeopenedmouthwithtongueprotruding,narrowpalpebralfissuresSpecialfaciesandstateFace:13Specialfaciesandstateabdomen:
umbilicalherniafrogabdomenlargeabdomen
Specialfaciesandstateabdome14SpecialfaciesandstateState:
shortshortextremitieslongtrunk
SpecialfaciesandstateState:156Wgirl10ygirl6Wgirl10ygirl16ClinicalManifestationsOthermanifestations:delayeddentitiondelayedsexualmaturationretardedmentaldevelopmentlittleperspirationanemiaslowpulse
ClinicalManifestationsOther17Parochialhypothyroidismthecause:IodinedeficiencyClinicalmanifestations
“Nervesystem”syndrome
deaf,dystaxia,spasticparalysis,mentalretardation
“
myxedema”syndrome
delayedgrowthandsexualdevelopmentmyxedema,T4,TSHParochialhypothyroidismthec18ClinicalManifestationsMultiplepituitaryhormonesdeficiency
Thesyndromeismildsomeotherhormonesdeficiency
ACTHhypoglycemiaGnmicropenis
AVPdiabetesinsipidus
ClinicalManifestationsMultipl19LaboratoryDataNewbornscreeningprogram
2-3daysafterbirthbloodslip
TSH>20mU/Lsuspected
serumT4,TSHfinaldiagnosisLaboratoryDataNewbornscreeni20LaboratoryDataSerumT3T4TSHT4TSHLaboratoryDataSerumT3T4T21LaboratoryDataTRHstimulationassayTRH7mg/Kgivnormal
20~30minTSHpeakedpituitarynoTSHpeakhypothalamushighandprolongedpeak
LaboratoryDataTRHstimulatio22LaboratoryDataBoneage
delayedSPECT
ectopicthyroidLaboratoryDataBoneage23TreatmentL-thyroxine
6-8mg/kgininfants4mg/kginolderchildrenMonitor
thelevelsofT4,T3,TSH
StarttreatmentASAPTreatmentL-thyroxine24CONGENITALHYPOTHYROIDISMDr.XiaopingLuoProfessorandChairmanDepartmentofPediatricsTongjiHospitalTongjiMedicalCollegeCONGENITALHYPOTHYROIDISMDr.X25iodineactiveiodine+tyrosineMonoIodoTyrosineperoxidasethyroidglandtrapDiIodoTyrosinethyroxine,T4triiodothyronine,T3releasethyroidfollicleepitheliaCthyroglobulintakinginreleaseT4,T3lysosomehydrolyzeTheSynthesesandReleasecouplingiodineactiveiodineMonoIodoTy26HypothalamuspituitarythyroidT4,T3Targetorganscirculation(─)TRHTSHHypothalamuspituitarythyroidT427EtiologyAplasiaandhypoplasia90％themostcommoncauseofCHnothyroidrudimentarythyroidtissueectopiclocationlingualthyroidEtiologyAplasiaandhypoplasia28EtiologyThyrotropindeficiencydefectsofthepituitarydefectsofthehypothalamusidiopathichypothyroidism
EtiologyThyrotropindeficiency29EtiologyThyrotropinunresponsivenessactiveTSHnormal131IuptakeThyroidhormoneunresponsivenessT3T4FT3FT4
EtiologyThyrotropinunresponsi30EtiologyDefectivesynthesisofthyroxine
iodide-trappingdefectiodideorganificationdefectcouplingdefectdeiodinasedefectEtiologyDefectivesynthesisof31ClinicalManifestationsfemale:male=2:1Innewborns
heavieratbirth
prolongedphysiologyicteruspost-termdeliveryClinicalManifestationsfema32ClinicalManifestationsInnewborns
feedingproblem
quitebaby
reluctanttomoveClinicalManifestationsInnewb33ClinicalManifestationsInnewborns
lowtemperaturehorsecryslowresponseslowmusculartensionlowbloodpressureClinicalManifestationsInnewb342WboyBW4.4kg2WboyBW4.4kg35ClinicalManifestationsSpecialfaciesandstate
pallorincreasedheadsizecoolanddryskincoarseandbrittlehairsshortandthickneckClinicalManifestationsSpecial36SpecialfaciesandstateFace:
myxedemafaraparteyesdepressednosebridgeopenedmouthwithtongueprotruding,narrowpalpebralfissuresSpecialfaciesandstateFace:37Specialfaciesandstateabdomen:
umbilicalherniafrogabdomenlargeabdomen
Specialfaciesandstateabdome38SpecialfaciesandstateState:
shortshortextremitieslongtrunk
SpecialfaciesandstateState:396Wgirl10ygirl6Wgirl10ygirl40ClinicalManifestationsOthermanifestations:delayeddentitiondelayedsexualmaturationretardedmentaldevelopmentlittleperspirationanemiaslowpulse
ClinicalManifestationsOther41Parochialhypothyroidismthecause:IodinedeficiencyClinicalmanifestations
“Nervesystem”syndrome
deaf,dystaxia,spasticparalysis,mentalretardation
“
myxedema”syndrome
delayedgrowthandsexualdevelopmentmyxedema,T4,TSHParochialhypothyroidismthec42ClinicalManifestationsMultiplepituitaryhormonesdeficiency
Thesyndromeismildsomeotherhormonesdeficiency
ACTHhypoglycemiaGnmicropenis
AVPdiabetesinsipidus
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