先天性甲状腺功能减退课件.ppt

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CONGENITALHYPOTHYROIDISM
5thYearIntern-AmilaKannangara
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Clinicalscenario..
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Howwillyouadvicethem?
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Content…
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WhatisCongenitalHypothyroidism?
Isastateofinadequatethyroidhormoneproductioninnewborninfants.
Babieswhodonothaveenoughthyroidhormoneareoftenslowtogrow,aresluggish,andhavelearningdelaysandotherspecifichealthproblems.
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Whatarethecausesforthiscondition?

MostbabieswithCHaremissingtheirthyroidglandorhaveathyroidthatdidnotdevelopproperly. Insomecases,,thethyroidglandmayinsteadbeunderthetongueoronthesideoftheneck.

ChildrenwiththeinheritedtypeofCHdonotmakeenoughthyroidhormoneeventhoughtheirthyroidglandappearsnormalinsizeandshape.



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whatproblemsoccur?
.Poorfeedingandpoorsuck
.Lowactivitylevel
.Fewerbowelmovementsorconstipation
.Swellingaroundtheeyes
.Cool,pale,dryskin
.thefontanelthatcloseslate




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Ifleftuntreated
Coarse,swollenfacialfeatures
Breathingproblems
Hoarse-soundingcry
Delayedmilestones(sitting,crawling,walking,talking)
Wide,shorthands
Poorweightgainandgrowth
Goiter(enlargedthyroidglandcausingalumpintheneck)
Anemia
Slowheartrate
Fluidbuild-upundertheskin(calledmyxedema)
Hearingloss
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HowtodiagnoseCH?
Familyhistoryshouldbecarefullyreviewedforinformationaboutsimilarlyaffectedinfantsorfamilymemberswithunexplainedmentalretardation.
Maternalhistoryofathyroiddisorderandmodeoftreatment(whetherbeforeorduringpregnancy)
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WhatisthechanceofCHbeinginherited?
About80to85%ofthetime,CHiscausedwhenthethyroidglanddoesnotdevelopatall,ismisplaced,oristoosmall.
Inabout15%ofcasesofCH,thethyroidglandappearsnormalbuttheamountofthyroidhormonemadeisreduced. Thesecasesaremorelikelytobeinherited,butnotalways. 
MostofthehereditarytypesofCHareinheritedinanautosomalrecessivemanner.
Whenbothparentsarecarriers,thereisa25%%chanceforthechildtobeacarrier,,thereisa25%chanceforthechildtohavetwoworkinggenes.
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