Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference PDF
Preview Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference
Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology ADVANCESINEXPERIMENTALMEDICINEANDBIOLOGY EditorialBoard: IRUNR.COHEN,TheWeizmannInstituteofScience ABELLAJTHA,N.S.KlineInstituteforPsychiatricResearch JOHND.LAMBRIS,UniversityofPennsylvania RODOLFOPAOLETTI,UniversityofMilan RecentVolumesinthisSeries Volume699 MCR2009:PROCEEDINGSOFTHE4THINTERNATIONAL CONFERENCEONMULTI-COMPONENTREACTIONSAND RELATEDCHEMISTRY,EKATERINBURG,RUSSIA MaximA.Mironov Volume700 REGULATIONOFMICRORNAS HelgeGroßhans Volume701 OXYGENTRANSPORTTOTISSUEXXXII DuaneF.BruleyandJ.C.LaManna Volume702 RNAEXOSOME TorbenHeickJensen Volume703 INFLAMMATIONANDRETINALDISEASE JohnD.LambrisandAnthonyP.Adamis Volume704 TRANSIENTRECEPTORPOTENTIALCHANNELS Md.ShahidulIslam Volume705 THEMOLECULARIMMUNOLOGYOFCOMPLEX CARBOHYDRATES-3 AlbertM.Wu Volume706 ADHESION-GPCRS:STRUCTURETOFUNCTION SimonYonaandMartinStacey Volume707 HORMONALANDGENETICBASISOFSEXUAL DIFFERENTIATIONDISORDERSANDHOTTOPICS INENDOCRINOLOGY:PROCEEDINGSOFTHE2ND WORLDCONFERENCE MariaI.NewandJoeLeighSimpson AContinuationOrderPlanisavailableforthisseries.Acontinuationorderwillbringdeliveryofeach newvolumeimmediatelyuponpublication.Volumesarebilledonlyuponactualshipment.Forfurther informationpleasecontactthepublisher. · Maria I. New Joe Leigh Simpson Editors Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology Proceedings of the 2nd World Conference 123 Editors MariaI.New JoeLeighSimpson DepartmentofPediatrics HerbertWertheimCollegeofMedicine MountSinaiSchoolofMedicine FloridaInternationalUniversity NewYork,NY,USA Miami,FL,USA [email protected] simpsonj@fiu.edu The2ndWorldConferenceonSexualDifferentiationdoesnotendorseanyoneorganization orinstitution.Thecontentoftheproceedingsisforinformationalandeducationalpurposes only. ISSN0065-2598 ISBN978-1-4419-8001-4 e-ISBN978-1-4419-8002-1 DOI10.1007/978-1-4419-8002-1 SpringerNewYorkDordrechtHeidelbergLondon LibraryofCongressControlNumber:2011930093 ©SpringerScience+BusinessMedia,LLC2011 Allrightsreserved.Thisworkmaynotbetranslatedorcopiedinwholeorinpartwithoutthewritten permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY10013,USA),exceptforbriefexcerptsinconnectionwithreviewsorscholarlyanalysis.Usein connectionwithanyformofinformationstorageandretrieval,electronicadaptation,computersoftware, orbysimilarordissimilarmethodologynowknownorhereafterdevelopedisforbidden. Theuseinthispublicationoftradenames,trademarks,servicemarks,andsimilarterms,eveniftheyare notidentifiedassuch,isnottobetakenasanexpressionofopinionastowhetherornottheyaresubject toproprietaryrights. Whiletheadviceandinformationinthisbookarebelievedtobetrueandaccurateatthedateofgoing to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for anyerrorsoromissionsthatmaybemade.Thepublishermakesnowarranty,expressorimplied,with respecttothematerialcontainedherein. Printedonacid-freepaper SpringerispartofSpringerScience+BusinessMedia(www.springer.com) Preface The 2nd World Conference entitled ‘Hormonal and Genetic Basis of Sexual Differentiation’washeldinMiamionJanuary15,2010,andwasdirectedbyMaria I.NewandJoeLeighSimpson. The success of the conference was helped in part by the endorsement of the Endocrine Society and was jointly sponsored by the University of Miami Miller SchoolofMedicine. The history of this meeting dates back to 2004 when Dr. Maria New organized the1stworldconferenceinArizona.Theconferencebroughttogetherworldexperts inthefieldofdisordersofsexualdifferentiationandallowedthemtosharetheirvast amountsofknowledgeandcutting-edgeresearchwitheachother.Itwasalsoaway tobringthesescientiststoasingleroomwhereideasandtheoriescouldbediscussed aswellasnewcollaborations.Theconferencewasagreatsuccessandcouldbeseen intheliteraturebythesurgeofpeer-reviewedpapersandcollaborationsaroundthe world.Eventhoughdisordersofsexualdifferentiationhavebeennotedthroughout history, dating over 2,000 years, little was known and discoveries were waiting to happen.Dr.Newwouldhavelovedtohavethemeetingonanannualbasisbutwas unabletountilnow. Thanksinparttothe2004meeting,significantadvanceshavebeenmadeinthe biological, genetic, and psychological differences between a man and a woman. Also,inrecentyears,greatcontroversyhasriseninthemainstreammediadealing witheliteathletesandtheirdesirestoengageinsports.Whoshouldbeplayingon the‘boys’teamversuswhoshouldbeplayingonthegirlsteam?Thisquestionhas stimulated interest in the definition of sexual identity in the elite athlete and has goneasfarastoquestiongender.ThisincludesquestionssuchascananXYfemale compete as a female? Guidelines put out by different athletic boards vary and the lack of a general consensus of what should be done has sparked great anger and suspicionforsomeathletes.Accusationsfollowwhichcanbeveryembarrassingon alocalandinsomecasesaninternationallevel. The2ndWorldConferencesoughtoutthebestscientistinthefieldofsexualdif- ferentiationbothacademicandclinical.Itopenedanewplatformwheresurgeons, obstetricians, psychiatrists, endocrinologists, and pediatricians were able to have creativediscussionsandlearnabouttheinfluencestheyhaveoneachother.Theplat- formthatwascreatedallowedforapurposefullyinteractiveenvironmentinwhich v vi Preface newdiscoveriesandoutstandingscienceoverthepast6yearswerediscussed.The conference specifically addressed the controversy concerning biological (gonadal andanatomical) differencesbetweenamanandawoman.Thosepresentingatthe conferencewereworldclassscientistswhoachievedhighrecognitionfortheirwork over the years on the biological, genetic, and psychological differences between thesexes.Theycoveredrecentadvanceswhichcouldbeusedtoclarifyconfusions andtoaddresscontroversiesamongathletesliketheSouthAfricantrackstaratthe InternationalAmateurAthleticFederationmeetinBerlininAugust2009.Hereli- gibilitytocompeteasafemaleathletebroughtherinternationalmediaattentionand embarrassment as to what gender is she. The conference presented an extraordi- naryamountofdatathatcanhelpavoidsuchinternationalattention.Theconference taught ways to evaluate, diagnose, and treat those with disorders of sexual differ- entiation to clinicians who normally do not see these types of patients, may have themintheirpracticeunknowingly,orseethemonaregularbasiswithoutknowing whattodonext.Also,knowingthegreatimportanceofmodalitiessuchashormonal assaysandpsychologicaltestsusedalongwithDNAanalysis. The large scale of the meeting became greatly apparent when the International Olympic Committee (IOC) not only expressed that they would like to be present at the meeting but also desired to sit with the experts at the meeting and discuss future testing regulations that would help avoid attention such as that seen by the South African runner. A roundtable discussion was further organized by Dr. New so that the experts, with their vast knowledge of gender issues, could advise the IOCaswellastheIAFF(InternationalAssociationofAthleticsFederation)onhow to determine an athlete’s eligibility by using better testing modalities as well as clearer definitions of what it means to be a male as well as a female. It was also important to express that there are times where a situation will shift from being a sportingissuetoamedicalissue.TheIOC,10yearsago,hadabolishedmandatory gendertestingbutwithrecentattacksonathletesquestioningtheirgenderinavery public manner, it has become apparent that a review of current guidelines and the needforthedevelopmentofnewguidelinesareneeded.Theroundtablediscussion encompassedboththescienceandtheethicsofthisdilemmaandhelpedclarifythe medicalaspectoftheseissues. Thescopeofthemeetingwentwellbeyondjustthesciencebehindmanyofthese disorders; it also dealt with many issues that are beneficial to the practitioner. Sex determination in newborns born with genital ambiguity can be found dating back morethan2,000years(ANCIENTHISTOFCAH).Itcanbefoundintheartand writings throughout time and across many cultures. But, even though it has been dealt with in all societies for over a millennium, an accurate and effective way to quickly diagnose and assign gender to these newborns is still under investigation. Themeetingtookgreatcareinthisissueandwehopethatwiththeopendiscussions duringthemeetingaswellasthatwhichwaspresentedwillhelpthemedicalpracti- tionersworldwidetonotonlyhelpdiagnoseandtreatnewbornsbutalsohelpthose who were misdiagnosed or left undiagnosed at birth and present later in life with questionsorconfusionaboutchangesintheirbodies(i.e.,a46,XXmalepresenting becauseheismenstruatingfromhispenis). Preface vii We hope that the success of this meeting has not only answered questions but stimulatednewquestions.Wealsohope thatinsharingthecontents oftheconfer- encewiththosewhowereunabletoattendwillsparknewinterestandnewquestions inthisgreatfielddrivingitforwardwiththegreatmomentuminitiatedbythesegreat scientists.Wehopethatyouenjoytheproceedingsofthe2ndWorldConferenceof Hormonal and Genetic Basis of Sexual Differentiation and hope to see you at a futuremeeting. NewYork MariaI.New Miami,Florida JoeLeighSimpson Contents PartI GeneticDisordersofSteroids–Speakers 1 Congenital Adrenal Hyperplasia Owing to17α-Hydroxylase/17,20LyaseandP450Oxidoreductase Deficiencies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 ChristaE.Flück 2 CongenitalAdrenalHyperplasiaOwingto11β-Hydroxylase Deficiency . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 PerrinC.White 3 46,XYDSDdueto17β-HSD3Deficiencyand5α-Reductase Type2Deficiency . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 MarleneInacio,MariaHelenaP.Sircili,ViniciusN.Brito, SorahiaDomenice,AriAlvesOliveira-Junior,IvoJ.P.Arnhold, FranciscoD.Tibor,ElaineM.F.Costa,andBereniceB.Mendonca 4 StudiesofaCohortof46,XYwithDSDIncludingSteroid BiosynthesisDeficiencies . . . . . . . . . . . . . . . . . . . . . . . . 15 YvesMorel,IngridPlotton,DelphineMallet,MarcNicolino, Anne-MarieBertrand,MichelDavid,ClaireNihoul-Fekete, andPierreChatelain 5 AromataseDeficiencyandItsConsequences . . . . . . . . . . . . . 19 MelvinM.Grumbach 6 Gonadotropin-Regulated Testicular Helicase (GRTH/DDX25): A Master Post-transcriptional RegulatorofSpermatogenesis . . . . . . . . . . . . . . . . . . . . . 23 MariaL.Dufau,HisashiSato,RaviGutti,andChon-HwaTsai-Morris PartII Prenatal Diagnosis of Congenital Adrenal Hyperplasia–Speakers 7 LongRangeOutcomeofPrenatalTreatment . . . . . . . . . . . . 33 MariaI.NewandAlanA.Parsa ix x Contents 8 Novel Non-invasive Prenatal Diagnosis as Related toCongenitalAdrenalHyperplasia . . . . . . . . . . . . . . . . . . 37 JoeLeighSimpsonandFaridehBischoff PartIII TreatmentofCongenitalAdrenalHyperplasia–Speakers 9 MedicalTreatmentofClassicandNonclassicCongenital AdrenalHyperplasia . . . . . . . . . . . . . . . . . . . . . . . . . . 41 PhyllisW.Speiser 10 ApparentMineralocorticoidExcess–Update . . . . . . . . . . . . 47 SarojNimkarn 11 Clitoroplasty in Congenital Adrenal Hyperplasia: DescriptionofTechnique . . . . . . . . . . . . . . . . . . . . . . . . 49 DixP.Poppas 12 Genitoplasty/Vaginoplasty . . . . . . . . . . . . . . . . . . . . . . . 51 RichardC.Rink 13 Insights into the Aetiology of Ovotesticular DSD fromStudiesofMouseOvotestes . . . . . . . . . . . . . . . . . . . 55 PeterKoopmanandDagmarWilhelm PartIV ReceptorDefects–Speakers 14 46,XYDisordersofSexDevelopment(46,XYDSD)dueto AndrogenReceptorDefects:AndrogenInsensitivitySyndrome . . 59 IvoJ.P.Arnhold,KarlaMelo,ElaineM.F.Costa, DeboraDanilovic,MarleneInacio,SorahiaDomenice, andBereniceB.Mendonca 15 AndrogenReceptorMutationsAssociatedwithAndrogen Insensitivity Syndrome: A High Content Analysis ApproachLeadingtoPersonalizedMedicine . . . . . . . . . . . . . 63 AdamT.Szafran,HuiyingSun,SeanHartig,YuqingShen, SanjayN.Mediwala,JenniferBell,MichaelJ.McPhaul, MichaelA.Mancini,andMarcoMarcelli 16 PhenotypicVariationofSF1GeneMutations . . . . . . . . . . . . 67 PascalPhilibert,FrançoiseParis,FrançoiseAudran, NicolasKalfa,MichelPolak,ElisabethThibaud, GraziellaPinto,MurielHouang,DelphineZenaty, JulianeLeger,Jean-ChristopheMas,CatherinePienkowski, SilviaEinaudi,DurvalDamiani,SvetlanaTen,SunilSinha, FrancisPoulat,andCharlesSultan
The list of books you might like
