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1、先天性甲狀腺功能減低癥MITDITDITMITIITG+-TGTGTPOMITT4T3DIT甲狀腺激素的生物學(xué)作用（一）對代謝的影響1、產(chǎn)熱效應(yīng)2、對蛋白質(zhì)、糖和脂肪的影響（二）對生長發(fā)育的影響（三）對神經(jīng)系統(tǒng)的影響DEFINITIONAcongenitaldisorderofthyroidmetabolismcharacterizedbyalowerthannormalendorganeffectofthyroidhormoneresultinginthesignsandsymptomsofhy
2、pothyroidism.Etiology1、甲狀腺不發(fā)育或發(fā)育不全ThyroiddysgenesisEtiology2、新生兒暫時(shí)性甲狀腺功能減低癥TSH-BindingInhibitoryAntibody(TBIAb)Etiology3、甲狀腺素合成途徑缺陷Defectivesynthesisofthyroxine(thyroidhormone)Etiology4、促甲狀腺激素缺乏Thyrotropindeficiency(Thyroid-stimulatinghormone,TSH)Etio
3、logy5、甲狀腺或靶器官反應(yīng)性低下ThyroidhormoneunresponsivenessEtiology6、碘缺乏DefectofiodideCLINICALFEATURESNeurologicalmanifestationsinfantilehypotonialackofcrying("goodbaby")psychomotordelaysluggish/disinterestedsomnolenceRespiratoryManifestationsapneachokingspellsw
4、ithfeedsnasalobstructionnoisyrespirationsrespiratorydistresssyndromeCardiovascularManifestationscardiomegalymurmersslowheartrateGastrointestinalManifestationsconstipationdelayeddentationfeedingdifficultieshighbirthweightlargeabdomenmacroglossiapoorapp
5、etiteprolongedjaundiceunbilicalherniaCutaneousManifestationscoarse,brittle,scantyhaircoldandmottledskindeep,hoarsevoicedry,scalyskinedemaofgenitals&extremitieslowhairlinemyxedemaMusculoskeletalManifestationsnormalbodyweightbutdecreasedlengthnormalorin
6、creasedheadsizebroad,shortfingerspseudohypertrophy(calf)shortlimbsshortthickneckEndocrineManifestationsgoiter(witherrorofthyroidmetabolismINVESTIGATIONSScreeningallneonatesarescreenat48hoursforTSH(and/orT4)fromablooddropplacedonfilterpaperifresultis>0
7、.20mIU/Lseepatientimmediatelyforhistory/physical,todrawaserumT4andTSH,andtostartthyroidhormonetherapy(seebelow)SerumelevatedTSHandreducedT4anemiaunconjugatedhyperbilirubinemiaRadionuclideScintigraphyradioactivetechnetiumtodetectdevelopmentaldefectsoft
8、hethyroid(i.e.,dysgenesis,ectopia,etc.)SkeletalX-RaysforbaselineboneageretardationofosseousdevelopmentDifferentialdiagnosis佝僂病21-三體癥先天性巨結(jié)腸骨骼發(fā)育障礙的疾病MANAGEMENTThyroidReplacementstartthyroidhormoneat6ug/kgpoqdMaintenanceseeinitiallyat3and6monthso
