Turner综合征的临床实验综合研究.docVIP

Turner综合征的临床实验综合研究 ? 16?中国优生与遗传杂志2006年第14卷第3期 TheClinicalAnalysisofTurnerSyndrome JIANGJing.,WANGWel,FUMan—fen,CHENFeng—shen,WANGDe—fen (DepartmenofPediatrics,RuijH.spia1,shanghaise.ndMdica1unV.rsy,shanghai20o02) Abstract:Objective:Toresearchchangetheterminalheight,thelevelofgrowthhormone,sexualdevelopmentandrecordof formalschoolinginTurnersyndrome(TS).Methods:Karyotyping,growthhormoneprovocationtests,follow—upobservationsof schoolingrecordandsexualdevelopmentwerestudied.Results:239ISwerekaryotypedin4groups:1,45,X,95;II,mosaicism. 64;III,withvarious,aberrationsofstructureofXchromosome,74;IV,withYchromosome,6.Terminalheightswere139.24- 8.3cm,68growthhormonetests,Growthhormonedeficiency18,partofdeficiency34andnormal16.Inthefollow—upsurveyof45 TS,recordofformalschoolingweremainlyjuniormiddleschool,skillschoolandspecialschoo1.19hadvariousofdegreesexualdevel— opmentand26hadno.Conclusion:TheterminalheishtsofTSweremarkedlowerthannormal,Growthhormonewasdeficiency,learn— ingabilitydecline,hypoplasiaofsexand. Keywords:TS;Terminalheight;Growthhormone;Diploma;Sexualdevelopment Turnersyndrome(TS)isarelativelycommonchromosome disorder,causedbycompleteorpartialXmonosomyinsomeor allcells.TSaffectsapproximately1in2000female1ivebirths, althoughithasbeenestimatedthatonlyabout1%of45.Xfetu— sessurvivetotermandthatasmanyas10%ofspontaneousmis— carriageshavea45.Xkaryotype.Twentypercentofcasesare diagnosedatbirthduetotypicalclinicalfeaturesorsomaticab- normalitieswhichare~ttenrelatedto45.Xmonosomy.Thediag- nosisoftheremainingpatientsismadeduringchildhood(usually duetogrowthretardation)orlater,duetolackofpubertaldevel— opment.From1981to2003,12ourlaboratoryfound15variety kindsofchromosomekaryotypesin239IS.Amongthem195ca- seshaveclinicaldetails.ThispaperanalysedtheclinicofTS andtheirlaboratorydata. SUBJECTSANDMETHoDS 1.Subjects Rangedinagefrom2daysto28years,.11subjectshadclin- icalevidence(shortstature(heightlt;2s)andprimaryamenor— rhea(age≥18yearsandhadnomensis))supposingthediag- nosisofTS,an