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1、PEDIATRICS先天性甲狀腺功能減低癥CongenitalHypothyroidismintroductionname-----previouslycalledcretinism,nowitisdiscardedConcept----Hypothyroidismresultsfromdeficientproductionofthyroidhormoneordefectinitsreceptor.Thecharacteristicsislowmetabolismlevelandretardationingrowthandmentaldevelopment.etiology1.
2、errorsinembryologicdevelopmentofthyroid2.congenitaldefectofthyroidfunctiondefectivesynthesisofthyroxine2)poorresponsivenessofTSH3.congenitaldefectofhypothalamusandpituitaryglandclinicalmanifestationgrowthanddevelopmentretardationshortstaturewithshortlimbs,bighead,enlargedanteriofontanelle,de
3、layeddentitionandmotordevelopment2.mentalretardationtorpor,poorresponsive,awkwardactionandloweredIQclinicalmanifestation3.characteristicfaciesThepatienthasdepressedbridgeofbroadnose.Eyesappearfarapart.Thechildhasthicklip,large,thickandprotrudingtongueandptyalism.Thehairsparseandtheskiniscoar
4、se.clinicalmanifestation4.loweredphysiologicfunctionpresentaslowbodytemperature,lesssweat,coollimbs,weakandslowpulse,lowheartsound,distensiveabdomen,umbilicalherniaandconstipation.5.otersLowerrenalfiltration,hyponatremiaandmoderateanemia.clinicalmanifestation6.clinicalmanifestationinneonatal
5、period1)Heavierbirthweightoftenmorethan4000g.2)Feedingdifficulties.3)Prolongedphysiologicjaundice.4)Distentiveabdomenandconstipation.先天性甲低 男孩，13歲diagnosisInneonatalperiod,todiagnosisisdifficulty,soneonatalscreeningisimportant.Beforetheappearanceofcharacteristicclinicalsymptoms,mentaldisturba
6、ncehasappeared.soearlierperioddiagnosisisimportant.Todiagnosisdependsonlaboratoryexamination.Itisnoteasytodiagnosisdependsonclinicalfindings.diagnosisEstimationofthyroidfunction.skeletalX-rayexamination99mTcscanningtreatmentExceptneonataltransienthypothyroidism,itisnecessarytotakethyroidhorm
7、oneallthelifetokeepthephysiologicalfunction.NoNSsequelaoccursasthethetherapyisbegunafterbirthorintwomonths.theearlierthetime,thebettertheeffects.Toadjustdoseasneeded治療前治療后Question1:Girl,4months,wasborninwinter,full-term，normaldelivery,puremilkfeedi
