Klinefelter syndrome | Klinefelter's syndrome
KlinefeltersyndromeFromWikipedia,thefreeencyclopediaJumptonavigationJumptosearchNottobeconfusedwithXYYsyndrome.HumandiseaseKlinefeltersyndromeOthernamesXXYsyndrome,Klinefelter'ssyndrome,Klinefelter-Reifenstein-Albrightsyndrome47,XXYkaryotypePronunciation/ˈklaɪnfɛltər/SpecialtyMedicalgeneticsSymptomsAboveaverageheight,weakermuscles,poorcoordination,lessbodyhair,breastgrowth,lessinterestinsex,infertility.[1]ComplicationsInfertility,autoimmunedisorders,breastcancer,venousthromboembolicdisease,osteoporosisUsualonsetAtfertilisation[2]DurationLongtermCausesTwoormoreXchromosomesinmales[3]RiskfactorsOldermother[4]DiagnosticmethodGenetictesting(karyotype)[5]PreventionNoneTreatmentPhysicaltherapy,speechandlanguagetherapy,counseling[6]PrognosisNearlynormallifeexpectancy[7]Frequency1:500to1:1,000males[4][8]Klinefeltersyndrome(KS),alsoknownas47,XXYisthesetofsymptomsthatresultfromtwoormoreXchromosomesinmales.[3]Theprimaryfeaturesareinfertilityandsmallpoorlyfunctioningtesticles.[3][9]Often,symptomsaresubtleandsubjectsdonotrealizetheyareaffected.[1]Sometimes,symptomsaremoreevidentandmayincludeweakermuscles,greaterheight,poormotorcoordination,lessbodyhair,breastgrowth,andlessinterestinsex.[1]Oftenitisonlyatpubertythatthesesymptomsarenoticed.[5]Intelligenceisusuallynormal;however,readingdifficultiesandproblemswithspeecharemorecommon.[1]SymptomsaretypicallymoresevereifthreeormoreXchromosomesarepresent(48,XXXYsyndromeor49,XXXXYsyndrome).[1]Klinefeltersyndromeoccursrandomly.[4][10]TheextraXchromosomecomesfromthefatherandmothernearlyequally.[11]AnoldermothermayhaveaslightlyincreasedriskofachildwithKS.[4]ThesyndromeisdefinedbythepresenceofatleastoneextraXchromosomeinadditiontoaYchromosomeyieldingatotalof47ormorechromosomesratherthantheusual46.[9]KSisdiagnosedbythegenetictestknownasakaryotype.[5]Whilenocureisknown,anumberoftreatmentsmayhelp.[7]Physicaltherapy,speechandlanguagetherapy,counselling,andadjustmentsofteachingmethodsmaybeuseful.[6]Testosteronereplacementmaybeusedinthosewhohavesig
常見健康問答
turner syndrome中文klinefelter syndrome症狀klinefelter syndrome罕病Triple X syndromeXYY syndromeklinefelters syndrome中文Turner syndrome