先天性甲状腺功能减退（英文版）

Congenital

HypothyroidismHerecomesyourfooter

Page2DefinitionandCategoryPhysiologyandPathologyEtiologyClinicalManifestationsLaboratoryFindingsDifferentialDiagnosisTreatmentFollowUpPrognosisHerecomesyourfooter

Page3DefinitionCongenitalhypothyroidism(CHT)isaconditionofthyroid

hormonedeficiencypresentatbirth.Ifuntreatedforseveralmonthsafterbirth,severeCHcanleadtogrowthfailureandpermanentmentalretardation.

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Page4定义先天性甲状腺功能减低症（Congenitalhypothyroidism,CH)简称先天性甲低，是因甲状腺激素产生不足或其受体缺陷所致的先天性疾病。如果生后未及时治疗，将导致生长迟缓和智力低下。

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Page5CongenitalHypothyroidism——Primaryhypothyroidism,inwhichthethyroiddoesn'tproduceanadequateamountofT4.——Secondaryhypothyroidismdevelopswhenthepituitaryglanddoesnotreleaseenoughofthethyroid-stimulatinghormone(TSH)thatpromptsthethyroidtomanufactureT4

Category

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Page6CongenitalHypothyroidismCHisalsoclassifiedintopermanentandtransientPermanentCHreferstoapersistentdeficiencyofthyroidhormonethatrequireslife-longtreatmentTransientCHreferstoatemporarydeficencyofthyroidhormone,discoveredatbirth,butthenrecoveringtonormalinthefirstfewmonthsoryearsoflifeTheincidencerateofCHis1/3000~1/5000.CategoryHerecomesyourfooter

Page7CongenitalHypothyroidismSynthesisofThyroidHormonethyroidhormonetriiodothyronine(T3)thyroxine(T4)Materialsiodine,tyrosineSteps1.Iodinetrapping2.Iodineoxidized3.Tyrosineiodinate4.IodotyrosinecondensationPhysiologyandPathologyHerecomesyourfooter

Page8CongenitalHypothyroidismRegulationofThyroidFunctionPhysiologyandPathologyHerecomesyourfooter

Page9regulatonofH-P-TTRHsynthesizedinthehypothalamusaresecretedintothehypophysialportalcirculationTSHarethensecretedbythepituitarygland(hypophysis)inresponse,andinturnactonthyroidglandtostimulatethesecretionofthyroidhormones.Thethyroidhormonesexerttheireffectsonvarioustargettissues(endorgans)andexertanindirectnegativefeedback(feed-backinhibition)ontheirownsecretionbyactingatthelevelofthepituitaryglandandthehypothalamus

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Page10CongenitalHypothyroidismActionsofThyroidHormoneIncreaseoxygenconsumptionandheatproductionAccelerategrowthanddevelopmentPromotecentralnervoussystemdevelopmentInfluencemetabolismoflipids,carbohydrates,proteins,nucleicacids，vitamins，water.HaveimportanteffectsonotherhormoneactionsPhysiologyandPathologyHerecomesyourfooter

Page11CongenitalHypothyroidismThyroiddysgenesis(aplasia,dysplasia,ectopic)90%~95%Defectivesynthesisofthyroidhormone，geneticallydeterminedenzymaticdefects,thyroidenlargementispresentTRHorTSHdeficiencyUnresponsivenessoftissuestoTSHorthyroidhormoneMaternalautoimmunedisease，medicationduringpregnancy,suchasradioactiveiodinetherapyIodinedeficiency.*EtiologyHerecomesyourfooter

Page12CongenitalHypothyroidismEarlysymptomsandsigns(1~2monthoflife)Postmatureinfant,largeforgestationalageProlongationofphysiologicicterusFeedingdifficulties,poorappetites,constipation,hypothermiaTheanteriorandposteriorfontanelsarewidelyopenClinicalManifestationsHerecomesyourfooter

Page13Score>5suggestshypothyroidism

15

Total

1

Birth-weight>3.5kg1

Durationofgestation>40weeks2

constipation

1

Open,posteriorfontanelle1

Rough,dry,scaly,cool,mottledskin1

Jaundice(icterus>3days)1

Hypotonia1

Enlargedtongue

2

nonpittingmyxedema1

Pallor,coldness,hypothermia1

Ychromosomeabsent(female)2Hernia,umbilical

Score

SymptomHerecomesyourfooter

Page14CongenitalHypothyroidismTypicalFeaturesofHypothyroidism1.CharacteristicfaciesEyesseemtobewidelyspacedBridgeofnoseisflatandbroadEyelidsswollenMouthiskeptopenandthethickandbroadtongueprotrudesfromitSkinisdryandmyxedemamaybepresentClinicalManifestations甲状腺功能减退症Herecomesyourfooter

Page16CongenitalHypothyroidismTypicalFeaturesofHypothyroidism2.GrowthfailureShortstature,infantileskeletalproportionswithshortextremitiesProtuberantabdomen,umbilicalherniaDelayedclosureoffontanelsRetardeddentaleruptionClinicalManifestationsHerecomesyourfooter

Page17CongenitalHypothyroidismTypicalFeaturesofHypothyroidism3.Mentalretardation4.Diminishedphysicalactivityhypothermia,bradycardia,sluggish,poorappetite,constipation,umbilicalhernia,poormuscletone,hoarsevoiceorcry,anemiaClinicalManifestationsHerecomesyourfooter

Page18ShortstatureMentalsluggishnessconstipationskin:dry,thick,scaly,andcoarse,withayellowishtingecoldintoleranceexcessivesleepinesspuffyedemaofthefacedelayedsexualmaturation

untreatedchildrenHerecomesyourfooter

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Page20CongenitalHypothyroidismManifestationsofSecondaryHypothyroidismThesymptomsaremildThemajorityofaffectedinfantshavemultiplepituitaryhormonedeficienciesandpresentwithhypoglycemia,micropenisHerecomesyourfooter

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Page22NormalH-PonMRIHerecomesyourfooter

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pituitaryhypoplasia;absenceofpituitarystalk;EPPHerecomesyourfooter

Page24EmptysellaHerecomesyourfooter

Page25CongenitalHypothyroidismScreeningprogramsforNeonatalthyroidtesting(TSH)indicatecongenitalhypothyroidism.IfTSH>20mU/L,hypothyroidismissuspiciousSerumT4,FT4,TSHMeasurementPrimaryhypothyroidism:TSH↑↑,T4↓,FT4↓Secondaryhypothyroidism:TSH↓ornormal,T4↓,orFT4↓NormalvalueFT3(5.3~7.6)pmol/L,FT4(13~23)pmol/L,TSH(0.9~4.3)mU/L,(1.7-9.1mU/L,<2-6weeksinfants)LaboratoryFindingsHerecomesyourfooter

Page26SCREENINGPROGRAMSFORNEONATALHYPOTHYROIDISMCHshouldbediagnosedbyneonatalscreeningwithin10daysofbirthAdequatetreatmentstartedassoonaspossibleCertainlybeforetheendofthefirstmonthtoimprovestheprognosisforintellectualperformancelaterinlifeHerecomesyourfooter

Page27TSHlevels,(coolingandstress),rapidlyrisereaching60-80-U/mllevelswithin30minafterdeliveryandthenslowlydeclineoverthenextfewdaystoapproximatelevelsofolderchildren(<5U/ml)by5-7days.TheelevationofTSHisfollowedbyariseofbothT4andT3to"thyrotoxiclevels"by24hr.Thisphenomenonisfrequentlyreferredtoas"physiologicalhyperthyroidism."

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ClinicalConditionsAssociated

withAbnormalScreeningTest Result

LowT4at3~5day

TSH

Normal

TransienthypothyroxinemiaPrematurityPituitary/hypothalamichypothyroidismCongenitalTBGdeficiency

elevated

PrimaryhypothyroidismTransienthypothyroidism

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Page29CongenitalHypothyroidismSkeletalx-ray:Boneageisdelayed.Boneage<ChronologicageBultrasoundscanningforthyroidgland，UterousH-PMRIatechnetium(Tc-99mpertechnetate)thyroidscanisperformedtodetectastructurallyabnormalglandECGmayshowlowvoltagePandTwaveswithdiminishedamplitudeofQRScomplexes.Cholesterollevelisusuallyelevated.OtherLaboratoryFindingscase国外研究原发性甲减并垂体增生和性早熟女孩治疗前后垂体改变治疗前治疗后case国外研究

原发性甲减并垂体增生和性早熟女孩治疗前后超声改变治疗前治疗后Herecomesyourfooter

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Page33Differencialdiagnosis(D/D)

òDownsyndromeòCongenitalachondroplasiaòHurlersyndrome(Mucopolysaccharide)òCongenitalmegacolonHerecomesyourfooter

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brachycephaly

smallearsupslantingpalpebralfissures

flatnasalbridge

underdevelopedmidface,and

protrudingtongue

hypotoniaCHD

DS:47，XY，+21Herecomesyourfooter

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21-trisomymentaretardationshortstaturegeneralizedhypotonia

Thehandsandfeetbroad,abnormalBoneagedelayabnormalkaryotypesHerecomesyourfooter

Page36transversepalmarcreasesfifthfingerclinodactylyincreasedspacesbetweenthefirstandsecondtoes21-trisomyHerecomesyourfooter

Page37ShortlimbsLargeheadFrontalbossingDepressednasalbridgelordosisCongenitalachondroplasiaHerecomesyourfooter

Page38thehandsshortandbroadtridentawedgeshapedgapCongenitalachondroplasiaHerecomesyourfooter

Page39normalatbirthhepatosplenomegalyexaggerated

kyphosispersistentnasaldischargenoisybreathingcoarsewithagementalretardationHurlersyndrome(Mucopolysacchridosis)Herecomesyourfooter

Page40stiff,contractedjoints

MucopolysacchridosisHerecomesyourfooter

Page41Hirschsprung'sdisease(congenitalmegacolon)thedistalcolonareunabletorelax,causingfunctionalcolonicobstruction.Patientspresentwithpersistent,severeconstipationdifficultbowelmovements,poorfeeding,poorweightgain,andprogressiveabdominaldistentionAbnormalX-raywithbariumenemacanshowproximaldistentionanddistalcolonstenosisNormalT4andTSH

先天性甲低的治疗原则不论原因在甲状腺或H-P，一旦确诊立即治疗甲状腺发育异常者需终身治疗新生儿筛查初筛结果TSH>40mU/L,同时B超示甲状腺缺如或发育不良或伴有甲低症状体征者，可不必等甲功，立即开始治疗治疗剂量要足，尽早使FT4,TSH恢复正常水平。FT4维持在正常上限若疑有暂时性甲低者，可在治疗2-3年后，停药1个月复查甲功Herecomesyourfooter

Page43CongenitalHypothyroidism

Thegoalofnewbornscreeningprogramsistodetectandstarttreatmentwithinthefirst1–2weeksoflife.

Treatmentconsistsofadailydoseofthyroxine,availableasasmalltablet.Thegenericnameislevothyroxine

,

Itshouldbeusedearly,life-long,adequatedose,patientscomplicatedwithheartdamagefromsmallerdosetoadequatedoseTreatmentTreatmentthyroidhormonereplacement

Dailydosageageμg/kg(μg/day)prema'tureinfants8-10terminfants-6months8(25-50)6-12months6(50-75)1-5years5(75-100)6-12years4(100-150)12yearsandolder3(≥150)Herecomesyourfooter

Page45TreatmentThetabletiscrushedandgiventotheinfantwithasmallamountofwaterormilk.C-CH:smallerdoseL-T4,andsupplementwithphysiologicaldosageofcortisolinthemeantimeHerecomesyourfooter

Page46Treatment-FollowupòIndividualizedbymonitoringT4,FT4andTSH2weeksatbegaining,4wee