Klinefelter Syndrome: Incidence, Outlook, and More | Klinefelter's syndrome

EverythingYouShouldKnowAboutKlinefelterSyndromeMedicallyreviewedbySuzanneFalck,M.D.,FACP—WrittenbyStephanieWatson—UpdatedonMay23,2017SymptomsIncidenceCausesDiagnosisTreatmentInfertilityEmotionalhealthComplicationsOutlookWhatisKlinefeltersyndrome?KlinefeltersyndromeisageneticdiseasethatcausesmalestobebornwithanextracopyoftheXchromosomeintheircells.Maleswiththisconditionhavesmaller-than-normaltesticlesthatproducelesstestosterone.Testosteroneisthemalehormonethatstimulatessexualtraitslikebodyhairandmusclegrowth.Alackoftestosteronecausessymptomslikebreastgrowth,asmallpenis,andlessfacialandbodyhairthannormal.Manymenwiththisconditionwon’tbeabletofatherchildren.Klinefeltersyndromecanalsodelayspeechandlanguagedevelopmentinmalechildren.Whatarethesymptoms?Becausemostofthesymptomsstemfromlowtestosterone,manyboyswithKlinefeltersyndromedon’tnoticeanysymptomsuntiltheyreachpuberty.That’swhentestosteronelevelsnormallyincrease.Testosteronelevelsbyage»Inyoungchildren,thefirstsignisoftenadelayinspeakingorlearning.Forexample,ababywithKlinefeltersyndromemightspeaklaterthanhispeers.Inoldermales,commonsymptomsinclude:smallpenisandsmall,firmtesticleslittletonospermproductionenlargedbreasts,alsoknownasgynecomastiaverylittlehairontheface,inthearmpits,andaroundthepubicareaincreasedheightlonglegswithashorttrunklackofmuscletoneandstrengthlackofenergylowsexdriveincreasedbellyfatproblemsreading,writing,andcommunicatinginfertilityanxietyanddepressionproblemsinteractingsociallymetabolicdisorderslikediabetesMenwhoonlyhaveanextraXchromosomeinsomeoftheircellswillhavemildersymptoms.AsmallernumberofmaleshavemorethanoneextraXchromosomeintheircells.ThemoreXchromosomestheyhave,themoreseveretheirsymptomswillbe.SymptomsofmoresevereKlinefeltertypesinclude:majorproblemswithlearningandspeechpoorcoordinationuniquefacialfeaturesboneproblemsReadmore:9Signsoflowtestosteroneinmen»Howcommonisit?Klinefeltersyndromeisoneofthemostcommonchromosomeconditionsinnewborns.Itaffectsbetween1in500and1in1,000newbornmales.Variantso

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