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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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