Background

Disordersofsexdevelopment(DSDs),formerlytermedintersexconditions,areamongthemost
fascinatingconditionsencounteredbytheclinician.Theabilitytodiagnosetheseconditionshas
advancedrapidlyinrecentyears.Inmostcasestoday,clinicianscanpromptlymakeanaccurate
diagnosisandcounselparentsontherapeuticoptions.However,theparadigmofearlygender
assignmenthasbeenchallengedbytheresultsofclinicalandbasicscienceresearch,whichshowthat
genderidentitydevelopmentlikelybeginsinutero.
Whilethetechniquesofsurgicalgenitalreconstructionhavebeenmastered,theunderstandingofthe
psychologicalandsocialimplicationsofgenderassignmenthasshiftedtheparadigmawayfromearly
reconstructioninsomecases.Thisarticlefocusesonnewbornevaluationandthedifferentialdiagnoses
inchildrenwithDSDs,includingchildrenwithambiguousgenitalia. [1,2]

Classification
In2006,theLawsonWilkinsPediatricEndocrineSociety(LWPES)andtheEuropeanSocietyfor
PaediatricEndocrinology(ESPE)publishedproposedchangestothepreviouslyusednomenclatureand
definitionsofdisordersinwhichthedevelopmentofchromosomal,gonadal,orphenotypicsexis
atypical.[3,4]Therationalebehindtheseproposalswastochangethenomenclaturetoreflectadvancesin
ourunderstandingofthepathophysiologyofthesedisorderswhilebeingsensitivetotheneedsand
concernsofpatientsaffectedbythem.
ThepreviousterminologyandtherevisedLWPESESPEnomenclaturearecomparedinTable1below.
TheLWPESESPEterminologymainlyreflectsthechromosomalsexorthegonadaltissueassociated
withthedisorder.
Table1.PreviousTerminologyandRevisedNomenclatureofDisordersofSexualDevelopment(Open
Tableinanewwindow)
Previous
Femalepseudohermaphrodite
Malepseudohermaphrodite
Truehermaphrodite
XXmale
XYsexreversal

Revised
46,XXDSD
46,XYDSD
OvotesticularDSD
46,XXtesticularDSD
46,XYcompletegonadaldysgenesis

Asexamples,classificationsofsexchromosomeDSDincludethefollowing:

45,X(Turnersyndromeandvariants)

47,XXY(Klinefeltersyndromeandvariants)

45,X/46,XY(mixedgonadaldysgenesis,ovotesticularDSD)

46,XX/46,XY(chimeric,ovotesticularDSD)