先天性甲状腺功能减低症 课件.ppt

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1、先天性甲状腺功能减低症MITDITDITMITIITG+-TGTGTPOMITT4T3DIT甲状腺激素的生物学作用（一）对代谢的影响1、产热效应2、对蛋白质、糖和脂肪的影响（二）对生长发育的影响（三）对神经系统的影响DEFINITIONAcongenitaldisorderofthyroidmetabolismcharacterizedbyalowerthannormalendorganeffectofthyroidhormoneresultinginthesignsandsymptomsofhy

2、pothyroidism.Etiology1、甲状腺不发育或发育不全ThyroiddysgenesisEtiology2、新生儿暂时性甲状腺功能减低症TSH-BindingInhibitoryAntibody(TBIAb)Etiology3、甲状腺素合成途径缺陷Defectivesynthesisofthyroxine(thyroidhormone)Etiology4、促甲状腺激素缺乏Thyrotropindeficiency(Thyroid-stimulatinghormone,TSH)Etio

3、logy5、甲状腺或靶器官反应性低下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佝偻病21-三体症先天性巨结肠骨骼发育障碍的疾病MANAGEMENTThyroidReplacementstartthyroidhormoneat6ug/kgpoqdMaintenanceseeinitiallyat3and6monthso