外生殖器性别不清的鉴别诊断与处理.ppt

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1、DifferentialDiagnosisofAmbiguousGenitalia(AG)TianQin-jieDept.OB/GYN,PUMCH,CAMSWHOCollaboratingCentreforTrainingandResearchinHumanReproductiveHealthDeterminationofnewborn’ssexmostlydependsontheappearanceofexternalgenitaliaWhat’sthemostcommonreason?Howdowefindthereasons?Disorder

2、sofSexDevelopment(DSD)Definition:DSDsarecongenitalconditionsinwhichdevelopmentofchromosomal,gonadaloranatomicsexisatypicalPediatrics,2006,NovTheincidenceofDSDisabout1/1,000newbornsNIH,USA2000Newclassificationofdisordersofsexdevelopment(1996)NumbersRatioSexchromosomeabnormalities：18

3、741.6％Turner’ssyndrome166XO/XYgonadaldysgenesis10Superfemale7Truehermaphroditism246,XX/46,XYgonadaldysgenesis1Klinefeltersyndrome1Gonadalabnormalities15033.3%XXpuregonadaldysgenesis119XYpuregonadaldysgenesis17Truehermaphroditism11Testicularregression3Sexhormonesabnormalities11325.1％

4、Hyperandrogenism56Congenitaladrenalhyperplasia55Excessandrogenintakeduringearlypregnancy1Hypoandrogenism1417-hydroxygenasedeficiency14Androgeninsensitivitysyndrome43Completetype15Partialtype28Total450100.0％SummaryofDSDVarioustypesanddifferentetiologiesDifferentDSDsmighthavesimilarma

5、nifestationsSameDSDmighthavedifferentmanifestationComplicated,easily-confusedHOWTOMAKEACORRECTDIAGNOSISANDDIFFERENTIALDIAGNOSIS?KeypointsFamiliarwitheachdisordersUsefulcluesandprocedureManifestationofDSDAGisoneofmostcommoncomplainsAtbirth/puberty23.3%ofDSD,PUMCH,2001AmenorrheaUnd

6、erdevelopedbreastand/orsexualhairsShortstatusBasicKnowledgeI.TheDifferentiationandDevelopmentofExternalGenitaliaOriginatesfromsamestructureDependson:TestisdifferentiationLeydigCellsAndrogensingenitaliaduringfetaldevelopmentTestosterone5α-reductaseDHTFunctionofandrogenreceptor(AR)2.D

7、egreeoflabium-scrotumfusionrelatedtothetimingofandrogenUnderinfluenceofhighlevelofandrogenBeforegestational12weekstendtohavemoresignsofvirilism-girlsmallpenis,hypospadiasorpartialfusionofscrotumAftergestational12weeksGirlwillonlyhaveclitomegalyAndrogenPlaysthemostimportantroleint

8、henormaldevelopment