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Weibliche Genitale Fehlbildungen Weibliche genitale Fehlbildungen AWMF-Registernummer 015/052 Leitlinienklasse S2k Stand 03/2020 Version 1.0 Weibliche genitale Fehlbildungen 2 In Kooperation mit der Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften e.V. (AWMF) Weibliche genitale Fehlbildungen 3 Inhaltsverzeichnis I. LEITLINIENINFORMATIONEN ..................................................................................................... 9 TEMPLATE-VERSION ............................................................................................................................ 9 HERAUSGEBER ..................................................................................................................................... 9 LEITLINIENKOORDINATOR/ ANSPRECHPARTNER .......................................................................... 11 LEITLINIENGRUPPE ........................................................................................................................... 12 LEITLINIENKOMMISSION DER DGGG.............................................................................................. 16 FINANZIERUNG .................................................................................................................................. 18 PUBLIKATION .................................................................................................................................... 18 ZITIERWEISE ...................................................................................................................................... 18 LEITLINIENDOKUMENTE ................................................................................................................... 18 URHEBERRECHT ................................................................................................................................ 19 GENDERHINWEIS ............................................................................................................................... 20 BESONDERER HINWEIS ..................................................................................................................... 20 ABKÜRZUNGEN ................................................................................................................................. 21 II. LEITLINIENVERWENDUNG ........................................................................................................ 23 ÄNDERUNGEN/NEUERUNGEN ......................................................................................................... 23 FRAGESTELLUNG UND ZIELE............................................................................................................ 23 VERSORGUNGSBEREICH.................................................................................................................... 23 PATIENTINNENZIELGRUPPE .............................................................................................................. 23 ANWENDERZIELGRUPPE / ADRESSATEN ......................................................................................... 24 VERABSCHIEDUNG UND GÜLTIGKEITSDAUER ................................................................................ 25 ÜBERARBEITUNG UND AKTUALISIERUNG ....................................................................................... 26 LEITLINIENIMPLEMENTIERUNG ........................................................................................................ 27 III. METHODIK ..................................................................................................................................... 27 GRUNDLAGEN ................................................................................................................................... 27 EMPFEHLUNGSGRADUIERUNG .......................................................................................................... 28 STATEMENTS .................................................................................................................................... 29 KONSENSUSFINDUNG –UND KONSENSUSSTÄRKE .......................................................................... 30 EXPERTENKONSENS .......................................................................................................................... 30 LEITLINIENREPORT ........................................................................................................................... 31 INTERESSENKONFLIKTE .................................................................................................................... 32 1 EPIDEMIOLOGIE ........................................................................................................................... 37 2 ÄTIOLOGIE VON STÖRUNGEN DER MÜLLERSCHEN GÄNGE ....................................... 41 2.1 MAYER-ROKITANSKY-KÜSTER-HAUSER-SYNDROM ....................................................... 41 2.2 FUSIONSANOMALIEN DER MÜLLERSCHEN GÄNGE ......................................................... 42 Weibliche genitale Fehlbildungen 4 2.3 STÖRUNGEN DER MÜLLERSCHEN GÄNGE IM RAHMEN ÜBERGEORDNETER ERKRANKUNGEN ............................................................................................................... 42 2.4 STÖRUNGEN DER MÜLLERSCHEN GÄNGE BEI PHÄNOTYPISCH WEIBLICHEN PERSONEN MIT 46,XY-KARYOTYP ............................................................................................................ 43 3 KLASSIFIKATION ......................................................................................................................... 45 3.1 HISTORIE ........................................................................................................................... 45 3.2 VCUAM & ESHRE/ ESGE - KLASSIFIKATION .............................................................. 45 4 DIAGNOSTIK ................................................................................................................................. 51 4.1 PRÄNATALDIAGNOSTIK .................................................................................................... 51 4.2 DIAGNOSTIK ...................................................................................................................... 52 4.2.1 Kinder ............................................................................................................................................. 52 4.2.1.1 Spezifische Anamnese .......................................................................................... 52 4.2.1.2 Klinische Diagnostik ............................................................................................. 52 4.2.1.3 Bildgebende Diagnostik........................................................................................ 53 4.2.1.4 Weiterführende Diagnostik ................................................................................... 56 4.2.2 Jugendliche .................................................................................................................................. 56 4.2.2.1 Spezifische Anamnese .......................................................................................... 56 4.2.2.2 Klinische Diagnostik ............................................................................................. 56 4.2.2.3 Bildgebende Diagnostik........................................................................................ 57 4.2.2.4 Weiterführende Diagnostik ................................................................................... 57 4.2.3 Erwachsene .................................................................................................................................. 58 4.2.3.1 Spezifische Anamnese .......................................................................................... 58 4.2.3.2 Klinische Diagnostik ............................................................................................. 58 4.2.3.3 Bildgebende Diagnostik........................................................................................ 58 4.3 GENETISCHE DIAGNOSTIK ............................................................................................... 59 5 TRANSITION .................................................................................................................................. 63 5.1 EINFÜHRUNG UND BEGRIFFSERKLÄRUNG ....................................................................... 63 5.2 PROBLEMSTELLUNG BEI GENITALEN FEHLBILDUNGEN ................................................... 64 5.3 ASSOZIIERTE FEHLBILDUNGEN......................................................................................... 64 5.4 MULTIDISZIPLINÄRES TEAM ............................................................................................. 65 5.5 KONKRETE AUFGABEN DER TRANSITION ....................................................................... 66 6 FEHLBILDUNGEN DER VULVA ................................................................................................. 70 6.1 BESONDERHEITEN ............................................................................................................. 70 6.2 SPEZIELLE ANATOMIE ....................................................................................................... 71 6.3 SPEZIELLE DIAGNOSTIK .................................................................................................... 71 6.4 THERAPIE ........................................................................................................................... 71 6.5 SPEZIFISCHE NACHSORGE ...............................................................................................
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