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Proceedingband 2013 11. Interdisziplinärer SGA-Workshop 28.6.-29.6.2013 Clostermannshof Niederkassel

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Proceedingband 2013 11. Interdisziplinärer SGA-Workshop 28.6.-29.6.2013 Clostermannshof Niederkassel 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 Proceedingband 2013 11. interdisziplinärer SGA-Workshop 28.6.-29.6.2013 Clostermannshof Niederkassel Störungen der Geschlechtsdifferenzierung:; Physiologie und Pathophysiologie der Geschlechtsentwicklung, Klinik, Diagnostik; chirurgische, urologische, psychosoziale, psychische und juristische Aspekte; historische Betrachtung Geschlechtsidentitätsstörungen Gonadenfunktionen: Pubertät und ihre Varianten, Menstruationsstörungen Sonographie der kindlichen Ovarien Aktuelles aus Klinik und Forschung: SGA: Wachstum und Entwicklung; Varia Medizinischer Verlag Siegfried Zabransky ISBN 978-3-943113-04-4 1 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 Herausgeber: Prof.Dr.med. Siegfried Zabransky Institut für Pädiatrische Endokrinologie und Präventivmedizin (IPEP) Im Fuchstal 8, D-66424 Homburg Tel. +49 6841 172 785 Fax +49 6841 688 9553 eMail: [email protected] www.sga-syndrom.de Bibliographische Information der Deutschen Bibliothek: Die deutsche Bibliothek verzeichnet diese Publikation in der Deutschen Nationalbibliografie. Detaillierte bibliographische Da- ten sind im Internet über http:/dnb.ddb.de abrufbar. Urheberrechte: Das Werk einschließlich aller seiner Teile ist urhe- berrechtlich geschützt. Jede Verwendung ist ohne Zustimmung des Ver- lags unzulässig. Dies gilt insbesondere für Vervielfältungen, Übersetzun- gen, Mikroverfilmungen und die Einspeicherung und Verarbeitung in elektronische Systemen. Druck und Bindung: Faber, Mandelbachtal. Gedruckt auf säurefreiem und chlorfreiem gebleichtem Papier. Zitierweise: Proceedingband 2013, 11. Interdisziplinärer SGA-Workshop, 28.-29.6.2013, Hrsg. Siegfried Zabransky, Medizinischer Verlag Siegfried Zabransky, 2013 ISBN 978-3-943113-04-4 2 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 Inhaltsverzeichnis Seite 01 Impressum 03 Inhaltsverzeichnis 06 Programm 09 Vorwort TOP1: Geschlechtsentwicklung und mögliche Störungen 010 Zabransky Entwicklung und Differenzierung der Geschlechtsorgane 028 Mohnike Störungen der Geschlechtsdifferenzierung (DSD): Klinik und Differenzialdiagnose 031 Eggermann Non-invasive prenatal testing by next-generation sequencing: determination of fetal gender and aneuploidies in maternal blood 040 Sonografische pränatale Geschlechtsbestimmung 042 Susanne Krege Operative Maßnahmen zur Angleichung in männliche oder weibliche Richtung bei DSD 050 Petra Frank-Herrmann Entfernung der Keimdrüsen bei XY-Mädchen (Indikation, Hormonsubstitution) 059 Bosinski Psychosexuelle Probleme bei Personen mit DSD 082 Voß Intersexualität vor dem Hintergrund aktueller Debatten und gesellschaftlicher Entwicklungen in der BRD 3 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 089 Meyenburg, Transidentität im Kindes-und Jugendalter 101 Hoepffner DSD – Aspekte in Konsensuspapier, deutscher Leitlinie und Stellungnahme des Ethikrats 109 Debora Frommeld Disorders of sex development: Geschlechternormen, Geschlechterbilder und ihre Implikationen für die Medizin TOP 2: Gonadenfunktionen und ihre Störungen 127 Böhles Die Pubertätsentwicklung, ihre Norm und ihre Abweichungen bei Jungen und Mädchen 149 Auxologische Daten zu Penislänge, Ovar- und Uterusvolumen 153 Medikamentöse Therapie der zentralen Pubertas praecox 155 Anke Ertan Menstruation bei Jugendlichen, Normvarianten-und Pathologie 159 Rohrer Sonographie zystischer Raumforderungen des kindlichen Ovars TOP3: Aktuelles aus Klinik und Forschung 174 Eggermann Epigenetics and next generation sequencing 179 Ann-Katrin Flakowski Entwicklung der Geburtsgewichte und der Körper- längen bei gesunden Neugeborenen in den Jahren 2001-2011 im Perinatalzentrum Reutlingen 4 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 194 Luttkus, Zustand nach Sektio: Neonatale Morbidität nach Uterusruptur 206 Möller Extrauterine Wachstumsverzögerung (EUGR) bei sehr kleinen Frühgeborenen 209 Olbertz Forschungsprojekt „Entwicklungsstand und Wachstumsverhalten von Frühgeborenen und hypotrophen Neugeborenen“ 211 Rochow Birth weight percentiles, an international comparison 224 Markus Zabransky One-year data from a long-term phase IV study of Omnitrope/ (rhGH) in 269 short children born Small for Gestational Age (SGA) 226 Fricke Befunde zur muskuloskelettalen Interaktion bei Mäd chen und Frauen mit Ullrich-Turner-Syndrom (UTS) 229 Anschrift der Referenten und Moderatoren 5 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 Programm Ort: Hotel Clostermannshof, (53859) Niederkassel, Heerstr.) Beginn: Fr.28.6.2013, 11h Get together; 12h30: Begrüßung, Buchpräsentation; 13h Beginn der Vorträge; Ende Samstag, 29.6.2013, 16h30, Veranstalter: Prof.Dr.S.Zabransky, IPEP, Homburg, in enger Zusammenarbeit mit der interdisziplinären Päd.-Gyn. AG Kontakt/Details: www.sga-syndrom.de;[email protected] Freitag, den 28.6.2013 TOP 1: Interdisziplinäre Diskussion zum Thema Störungen der Geschlechtsdifferenzierung [Moderation: Mohnike, Zabransky Physiologie und Pathophysiologie der Geschlechtsentwicklung, Klinik, Diagnostik 1. Entwicklung und Differenzierung der Geschlechtsorgane (Zabransky) 2. Klinik und Differentialdiagnose bei DSD (Mohnike) 3. Sonographische Geschlechtsbestimmung des Feten (Bald) 4. Fetale Geschlechtsbestimmung im mütterlichen Blut (Eggermann) 5. Non-invasive prenatal testing by next-generation sequence (Eggermann) Chirurgische/Urologische Aspekte 1. Rekonstruktion des Genitale bei DSD (Krege) 2. Indikationen zur Entfernung der Keimdrüsen bei XY- Mädchen (Frank-Herrmann) 3. Chirurgische Strategien bei komplexen urogenitalen Fehl- bildungen (Boemers) 6 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 psychosoziale/psychische und juristische Aspekte 1. Psychosexuelle/psychosoziale Probleme bei DSD (Bosinski) 2. Intersexualität / Intergeschlechtlichkeit vor dem Hinter- grund aktueller Debatten und gesellschaftlicher Entwick- lungen in der Bundesrepublik Deutschland (Voß) 3. Leitlinien; Empfehlungen des deutschen Ethikrates (Hoepffner) 18h-19h Geschlechtsidentitätsstörungen im Kindes- und Jugendalter (Meyenburg) [Moderation Fricke] after dinner speech: Die Rolle des Geschlechts in der Gesellschaft: DSD - Geschlechternormen, Geschlechterbilder und ihre Implika- tionen für die Medizin (Frommeld) Samstag, den 29.6.2013 TOP2: Gonadenfunktionen Moderation: Rauh, Heinrich, Otte] 1. Pubertätsentwicklung und Ihre Varianten; Pubertas Prae- cox; Pubertas Tarda (Böhles) 2. Hormonelle Behandlung der Pubertas Praecox (Saenger) 3. Menstruationsstörungen bei Jugendlichen (Anke Ertan) 4. Sonografie zystischer Raumforderungen des kindlichen Ovars (Rohrer) 5. Maldescensus testis: Ursachen, Folgen, Hormontherapie (Martin) 6. Operatives Vorgehen bei Maldescensus testis und Hyospa- die (Finke) 7 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 TOP 3: Aktuelles aus Klinik und Forschung [Moderation Möller, Böhles, Dötsch, Ertan] Wachstum , Entwicklung 1. Geburtsgewichtsperzentilen im internationalen Vergleich (Olbertz) 2. Entwicklungsstand und Wachstumsverhalten von Frühge- borenen und hypothrophen Neugeborenen: Daten der Longitudinalergebnisse bis 4 Jahre (Olbertz) 3. Entwicklung der Geburtsgewichte und der Körperlängen bei gesunden Neugeborenen in den Jahren 2001-2011 im Perinatalzentrum Reutlingen (Flakowski) 4. Extrauterine growth restriction (EUGR) Frühgeborener, eine der IUGR vergleichbare Entwicklungsstörung (Möller) 5. One-year data from a long-term phase IV study of Omni- trope/ (rhGH) in 269 short children born SGA (Markus Zabransky) varia 1. Long acting Growth Hormone (Saenger) 2. Screening auf Gestationsdiabetes (Kubilay Ertan) 3. Zustand nach Sektio: Neonatale Morbidität nach Uterus- ruptur (Luttkus) 4. Befunde zur muskuloskelettalen Interaktion bei Mädchen und Frauen mit UTS (Fricke) 5. Utero-plazentare Insuffizienz beeinflusst die Gen-expres- sion von Schlüsselenzymen der Steroid- und Katecholamin- synthese in der fötalen Nebenniere – Auswirkungen auf den späteren renalen Phänotyp?" (Nüsken) 16h Zusammenfassung des Workshops, Ausblick auf 2014 8 11. interdisziplinärer SGA-Workshop 28.-29.6.2013 Vorwort zum Proceedingband 2013 Die Themen Intersexualität und Geschlechtsidentitäts- störungen haben in den letzten Jahren mehr öffentliche Auf- merksamkeit bekommen als früher. Aufgrund der von Seiten der Betroffenen z.T. sehr kämpferisch geführten Debatten, wurde das therapeutische Konzept intersexueller Genitalbefunde neu überdacht. In einer interdisziplinären Runde werden genetische, klinische, chirurgische/ urologische, sexualmedizinische und psy- chotherapeutische Aspekte erörtert. Die Beschlüsse des Deut- schen Ethikrates werden kritisch beleuchtet. Eine geschichtliche Betrachtung des Themas "Die Rolle des Geschlechts in der Ge- sellschaft" rundet diesen Themenkomplex ab. Die Vorträge zum Thema Gonadenfunktionen repetieren den aktuellen Wissensstand zum Thema Pubertätsentwicklung (Pubertas praecox, Pubertas tarda; Hormontherapie der P.p., Maldescensus testis, Menstruationsstörungen). Es werden so- nographische Befunde zum Thema ovarielle Veränderungen im Kindesalter vorgestellt. Unter der Rubrik "Aktuelles aus Klinik und Forschung" wer- den Studienergebnisse zur Entwicklung Frühgeborener und hypothropher Kinder referiert, sowie Daten zum Outcome nach- folgender Entbindungen bei Schnittentbindungen. Mit unseren interdisziplinären Workshops haben wir 2003 begonnen. Wir können in diesem Jahre 2013 demnach 10 Jahre SGA-Workshop feiern. Die Ergebnisse der Workshops wurden in dem jetzt erschienenen Buch "Caring for children born small for gestational age" (Springer Health, London) zusammengefasst. Ich danke allen Beteiligten und
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