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CONGENITALHYPOTHYROIDISMDr.XiaopingLuoProfessorandChairmanDepartmentofPediatricsTongjiHospitalTongjiMedicalCollegeiodineactiveiodine+tyrosineMonoIodoTyrosineperoxidasethyroidglandtrapDiIodoTyrosinethyroxine,T4triiodothyronine,T3releasethyroidfollicleepitheliaCthyroglobulintakinginreleaseT4,T3lysosomehydrolyzeTheSynthesesandReleasecouplingHypothalamuspituitarythyroidT4,T3Targetorganscirculation(─)TRHTSHEtiologyAplasiaandhypoplasia90％themostcommoncauseofCHnothyroidrudimentarythyroidtissueectopiclocationlingualthyroidEtiologyThyrotropindeficiencydefectsofthepituitarydefectsofthehypothalamus

idiopathichypothyroidism

EtiologyThyrotropinunresponsivenessactiveTSHnormal131IuptakeThyroidhormoneunresponsivenessT3

T4FT3FT4

EtiologyDefectivesynthesisofthyroxine

iodide-trappingdefectiodideorganificationdefectcouplingdefect

deiodinasedefectClinicalManifestationsfemale:male=2:1Innewborns

heavieratbirth

prolongedphysiologyicteruspost-termdeliveryClinicalManifestationsInnewborns

feedingproblem

quitebaby

reluctanttomoveClinicalManifestationsInnewborns

lowtemperaturehorsecryslowresponseslowmusculartensionlowbloodpressure2WboyBW4.4kgClinicalManifestationsSpecialfaciesandstate

pallorincreasedheadsizecoolanddryskincoarseandbrittlehairsshortandthickneckSpecialfaciesandstateFace:

myxedemafaraparteyesdepressednosebridgeopenedmouthwithtongueprotruding,narrowpalpebralfissuresSpecialfaciesandstateabdomen:

umbilicalherniafrogabdomenlargeabdomen

SpecialfaciesandstateState:

shortshortextremitieslongtrunk

6Wgirl10ygirlClinicalManifestationsOthermanifestations:delayeddentitiondelayedsexualmaturationretardedmentaldevelopmentlittleperspirationanemiaslowpulse

Parochialhypothyroidismthecause:IodinedeficiencyClinicalmanifestations

“Nervesystem”syndrome

deaf,dystaxia,spasticparalysis,mentalretardation

“

myxedema”syndrome

delayedgrowthandsexualdevelopmentmyxedema,T4,TSHClinicalManifestationsMultiplepituitaryhormonesdeficiency

Thesyndromeismildsomeotherhormonesdeficiency

ACTHhypoglycemiaGnmicropenis

AVPdiabetesinsipidus

LaboratoryDataNewbornscreeningprogram

2-3daysafterbirthbloodslip

TSH>20mU/Lsuspected

serumT4,TSHfinaldiagnosisLaboratoryDataSerumT3T4TSHT4TSHLaboratoryDataTRHstimulationassayTRH7mg/Kgivnormal

20~30minTSHpeakedpituitarynoTSHpeakhypothalamushighandprolongedpeak

LaboratoryDataBoneage

delayedSPECT

ectopicthyroi

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