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1CongenitalHypothyroidism
1CongenitalHypothyroidismoveralloneofthemostcommonendocrinediseasescommonerinfemalesthanmalesaffectgrowthanddevelopmentdelayedtreatmentresultsinpermanentneurologicalabnormalitiesoverall
Thyroidgland
Developefromthebuccopharyngealcavity(4-10wgestation)
Arisefromthefourthbranchialpouches
Endupintheneck.
Producethyroidhormone
(10-11w)
T4levelreachedtermlevels
(
18-20w)ThyroidglThyroidhormonogenesissecretedbyfolliclescentralcolloidcore,thyroglobulin(Tg)follicularcells,parafollicularC-cells
Dietaryiodineconvertedtoiodide
TPOoxidationorganification(iodinationoftyrosylresidues)↓↓MITDITcoupling:T3,T4(thyroidhormone)storedincolloidreleasedintocirculationThyroidhormono儿科学英文课件:13CongenitalHypothyroidism
TransportT3,T4transportedtotargetcellbyTBG(thyroxine-bindingglobulin)
mostimportantcarriertransthyretinalbuminTransportT3,TRegulationhypothalamusTRH
↓+pituitaryTSH-+↓↑-thyroidglandT3←T4→γT3
RegulationhyBiologicaleffectsthermogenesiswaterandiontransportaccelerationofaminoacidandlipidmetabolismpotentiatetheactionofcatecholaminesstimulategrowthanddevelopmentofvarioustissues(brain,skeleton)
BiologicaleffeCauseofCH
Thyroiddysgenesis
agenesisdysplasiaectopygenesinvolvedinfetalthyroidformation
(TTF-1,TTF-2,TSHR,PAX8,NKX2-1,FOXE1,andNKX2-5)Inbornerrorofthyroidhormonogenesis
CauseofCHCauseofCH
Iodinedeficiency(endemicgoiter)CentralhypothyroidismCongenitalabnormalityofhypothalamusorpituitary
Maternalcause
CauseofCHTransienthypothyroidism
prematurebabymaternalanti-thyroiddrugmaternalautoantibodiesradioactiveiodine(maypermanent)
Transienthypot
EpidemiologyCongenitalprimaryhypothyroidism
1per3000-5000newbornsworldwideCentralhypothyroidism
1per60,000-140,000newbornsworldwideEctopicthyroid-25-50%Thyroidagenesis-20-50%Dyshormonogenesis-4-15%Hypothalamic-pituitarydysfunction-10-15%
EpidemiologyClinicalmanifestationsDuringtheneonatalperiodMostareasymptomaticsubtlenonspecificsymptomsEarlydetectionofCHcan'tbasedonsignsandsymptomsalone
ClinicalmanClinicalmanifestationsTheearliestsigns&symptomsofhypothyroidism
ProlongedgestationElevatedbirthweightDelayedstoolingafterbirth,constipationProlongedindirectjaundicePoorfeedingHypothermiaDecreasedactivitylevelNoisyrespirationsHoarsecry
ClinicalmanClinicalmanifestationsifuntreated
Coarsefacialfeatures
LargeprotrudingtongueMottled,cool,anddryskinLargefontanellesUmbilicalherniaMyxedemaoftheeyelids,hands,scrotumBradycardiaShortstatureElevatedweightSluggishbehaviorRarecryorhoarsecryGoiterClinicalman儿科学英文课件:13CongenitalHypothyroidismLaboratoryStudiesFT4↓TSH↑
FT3↓(ornormalrange)
Newbornscreeningtiming,
otherfactors(disorder,medicine,gestationalage,etal)TSHTSH+FT4TPO-Ab,TG-Ab(maternalfactors)LaboratorLaboratoryStudiesImagingstudy
ultrasoundonthyroidgland(absent,smaller,ectopia)
MRIonpituitarygland(enlargementduetoTSHcellsproliferation)
Boneage(retardatedthanchronologicalage)LaboratorLaboratoryStudiesOthersHGBLipidLiverfunctionEKGLaborator
Treatment
ThyroidhormonereplacementInitiatedassoonaspossibleL-T4(levothyyroxine)————————————————————age(yrs)
ug/dayug/kg.day————————————————————
0~0.525~508.5~10(10-15)0.5~1.050~755~81~575~1005~66~12100~1504~512~adult100~2002~3————————————————————TreatmentTreatmentmeasureFT3,FT4,TSHregularlytoadjustdosage
assessgrowthanddevelopment(H,W,BA,IQ)atage3forreevaluationlifelongtreatmentforpermanentCHpatientTreatmentTreatmentDietNodietaryrestrictionsarenecessaryActivityNorestrictionofactivityisrequiredonlyifCHpatientswithlargepericardialeffusionsTreatmentPrognosisGoodIFearlydiagnosedandappropriatedtreated
somechildrendemonstratemilddelays(reading,maths)
PrognosisGoodTipscausepresentationdiagnosistreatmentTipscause25CongenitalHypothyroidism
1CongenitalHypothyroidismoveralloneofthemostcommonendocrinediseasescommonerinfemalesthanmalesaffectgrowthanddevelopmentdelayedtreatmentresultsinpermanentneurologicalabnormalitiesoverall
Thyroidgland
Developefromthebuccopharyngealcavity(4-10wgestation)
Arisefromthefourthbranchialpouches
Endupintheneck.
Producethyroidhormone
(10-11w)
T4levelreachedtermlevels
(
18-20w)ThyroidglThyroidhormonogenesissecretedbyfolliclescentralcolloidcore,thyroglobulin(Tg)follicularcells,parafollicularC-cells
Dietaryiodineconvertedtoiodide
TPOoxidationorganification(iodinationoftyrosylresidues)↓↓MITDITcoupling:T3,T4(thyroidhormone)storedincolloidreleasedintocirculationThyroidhormono儿科学英文课件:13CongenitalHypothyroidism
TransportT3,T4transportedtotargetcellbyTBG(thyroxine-bindingglobulin)
mostimportantcarriertransthyretinalbuminTransportT3,TRegulationhypothalamusTRH
↓+pituitaryTSH-+↓↑-thyroidglandT3←T4→γT3
RegulationhyBiologicaleffectsthermogenesiswaterandiontransportaccelerationofaminoacidandlipidmetabolismpotentiatetheactionofcatecholaminesstimulategrowthanddevelopmentofvarioustissues(brain,skeleton)
BiologicaleffeCauseofCH
Thyroiddysgenesis
agenesisdysplasiaectopygenesinvolvedinfetalthyroidformation
(TTF-1,TTF-2,TSHR,PAX8,NKX2-1,FOXE1,andNKX2-5)Inbornerrorofthyroidhormonogenesis
CauseofCHCauseofCH
Iodinedeficiency(endemicgoiter)CentralhypothyroidismCongenitalabnormalityofhypothalamusorpituitary
Maternalcause
CauseofCHTransienthypothyroidism
prematurebabymaternalanti-thyroiddrugmaternalautoantibodiesradioactiveiodine(maypermanent)
Transienthypot
EpidemiologyCongenitalprimaryhypothyroidism
1per3000-5000newbornsworldwideCentralhypothyroidism
1per60,000-140,000newbornsworldwideEctopicthyroid-25-50%Thyroidagenesis-20-50%Dyshormonogenesis-4-15%Hypothalamic-pituitarydysfunction-10-15%
EpidemiologyClinicalmanifestationsDuringtheneonatalperiodMostareasymptomaticsubtlenonspecificsymptomsEarlydetectionofCHcan'tbasedonsignsandsymptomsalone
ClinicalmanClinicalmanifestationsTheearliestsigns&symptomsofhypothyroidism
ProlongedgestationElevatedbirthweightDelayedstoolingafterbirth,constipationProlongedindirectjaundicePoorfeedingHypothermiaDecreasedactivitylevelNoisyrespirationsHoarsecry
ClinicalmanClinicalmanifestationsifuntreated
Coarsefacialfeatures
LargeprotrudingtongueMottled,cool,anddryskinLargefontanellesUmbilicalherniaMyxedemaoftheeyelids,hands,scrotumBradycardiaShortstatureElevatedweightSluggishbehaviorRarecryorhoarsecryGoiterClinicalman儿科学英文课件:13CongenitalHypothyroidismLaboratoryStudiesFT4↓TSH↑
FT3↓(ornormalrange)
Newbornscreeningtiming,
otherfactors(disorder,medicine,gestationalage,etal)TSHTSH+FT4TPO-Ab,TG-Ab(maternalfactors)LaboratorLaboratoryStudiesImagingstudy
ultrasoundonthyroidgland(absent,smaller,ectopia)
MRIonpituitarygland(enlargementduetoTSHcellsproliferation)
Boneage(retardatedthanchronologicalage)LaboratorLaboratoryStudiesOthersHGBLipidLiverfunctionEKGLaborator
Treatment
ThyroidhormonereplacementInitiatedassoonaspossibleL-T4(levothyyroxine)
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