From Gene to Gender - What We’Ve Learned and What We Need to Learn - New Prospects in DSD Research

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From Gene to Gender - What We’Ve Learned and What We Need to Learn - New Prospects in DSD Research 3rd International Symposium on Disorders of Sex Development 20 – 22 May 2011 · Universität zu Lübeck Programme & Abstracts From Gene to Gender - What we’ve learned and what we need to learn - New Prospects in DSD Research Sessions on Genetics, Hormones & Action, Morphologic Variation in DSD and Clinical Aspects · Round Table · Poster Session and Oral Sessions 20 – 22 May 2011, Lübeck, Germany 1 Contents Contents...................................................................................................................................1 Welcome Remarks ...................................................................................................................3 About EuroDSD........................................................................................................................4 General Information..................................................................................................................5 Scientific Programme ...............................................................................................................6 Social Programme....................................................................................................................9 Speakers’ List.........................................................................................................................10 Poster Presentation................................................................................................................12 Abstracts Keynote Lectures ...................................................................................................15 Abstracts Oral Presentations..................................................................................................31 Abstracts Poster Presentations ..............................................................................................42 Maps.......................................................................................................................................86 Imprint ....................................................................................................................................90 Sponsors ................................................................................................................................91 SHORT STATURE PORTFOLIO Gezielt zum Erfolg Differenzierte Therapie von Wachstumsstörungen für die GH-Therapie für die IGF-I-Therapie NutropinAq® 10 mg/2 ml (30 I.E.), Injektionslösung. Wirkstoff: Somatropin. Zusammensetzung: Eine Zylinderampulle enthält: 10 mg (30 I.E.) Somatropin (humanes Wachstumshormon) aus mittels rekombinanter DNA-Technologie herge- stellt. Sonstige Bestandteile: Natriumchlorid, Phenol, Polysorbat 20, Natriumcitrat, Wasserfreie Citronensäure, Wasser für Injektionszwecke. Anwendungsgebiete: Langzeitbehandlung von Kindern mit Wachstumsstörungen infolge ungenügender Sekretion von endogenem Wachstumshormon (WH). Langzeitbehandlung von Wachstumsstörungen infolge Turner-Syndroms. Behandlung von präpubertären Kindern mit Wachstumsstörungen infolge chronischer Niereninsuffizienz bis zum Zeitpunkt einer Nieren- transplantation. Substitution von WH bei Erwachsenen, die entweder bereits seit der Kindheit o. seit dem Erwachsenenalter an einem WH-Mangel leiden. Gegenanzeigen: Überempfindlichkeit gegen Somatropin o. einen der sonstigen Bestandteile. Patienten mit geschlossener Epiphyse. Patienten mit aktivem Neoplasma. Die NutropinAq®-Therapie muss abgebrochen werden, falls es Anzeichen für ein Tumorwachstum gibt. Patienten mit akuter, schwerer Erkrankung infolge Komplikationen nach einer Herz- o. Bauch- operation, multiplen Unfallverletzungen. Patienten mit akuter Ateminsuffizienz. Nebenwirkungen: Sehr häufig bei Erwachsenen, häufig bei Kindern: Arthralgie, Myalgie, Ödem, peripheres Ödem. Häufig: Antikörper-Bildung, Hypothyreose, verminderte Glukose- toleranz, Kopfschmerzen, Hypertonie, Reaktionen an der Inj.-stelle, Asthenie. Gelegentlich: Malignom, Neoplasma, Anämie, Hypoglykämie, Hyperphosphatämie, Persönlichkeitsstörung, Somnolenz, Nystagmus, Papillenödem, Diplopie, Schwindel, Tachykardie, Hypertonie, Erbrechen, Bauchschmerzen, Blähungen, Übelkeit, Lipodystrophie, Hautatrophie, exfoliative Dermatitis, Urtikaria, Hirsutismus, Hauthypertrophie, Muskelatrophie, Knochenschmerzen, Karpaltunnelsyndrom, Harninkontinenz, Hämaturie, Polyurie, erhöhte Harnlassfrequenz/Pollakisurie, Urinanomalie, Genitalfluor, an der Inj.-stelle: Atrophie, Blutung u. Schwellung, Hypertrophie. Selten: Diabetes mellitus, Neuropathie, intrakranieller Hochdruck, Diarrhoe, abnorme Nierenfunktionswerte. Häufig: ZNS-Neoplasma. Häufig: Menorrhagie. Häufig: Nierenversagen, Peritonitis, Knochennekrose, erhöhter Kreatininspiegel. Sehr häufig: Parästhesie. Häufig: Hyperglykämie, Hyperlipidämie, Schlaflosigkeit, Störung der Synovialis, Arthrose, Muskelschwäche, Rückenschmerzen, Brustschmerzen, Gynäkomastie. Verstärktes Wachstum von Muttermalen o. Leberflecken möglich. Bei Kindern mit WH-Mangel Risiko für intrakraniellen Hochdruck. Patienten mit endokrin. Störung Risiko für Epiphysiolyse. Leukämie bei einer kleinen Anzahl Patienten mit WH-Mangel. Ursächlich. Zshg. mit Therapie unwahrscheinlich. Die Informationen zu Warnhinweisen und Vorsichtsmaßnahmen sowie Wechselwirkungen mit anderen Mitteln entnehmen Sie bitte der Fachinformation. Verschreibungspflichtig (NR). Ipsen Pharma GmbH, 76275 Ettlingen. Stand der Information: Oktober 2006. Zul.-Nr.: EU/1/00/164/003, EU/1/00/164/005 INCRELEX® 10 mg/ml Injektionslösung. Wirkstoff: Mecasermin. Zusammensetzung: Jeder ml enthält 10 mg Mecasermin. Jede Durchstechflasche enthält 40 mg Mecasermin. Mecasermin ist ein aus Zellen mittels rekombinanter DNA-Technologie ge- wonnener humaner IGF-1. Sonstige Bestandteile: Benzylalkohol, Natriumchlorid, Polysorbat 20, Essigsäure 99 %, Natriumacetat, Wasser für Injektionszwecke. Wirkstoffgruppe: Somatropin und Somatropin-Agonisten. Anwendungsgebiete: Für die Langzeitbehand- lung von Wachstumsstörungen bei Kindern und Jugendlichen mit schwerem primärem Mangel an IGF-1. Schwerer primärer IGF-1-Mangel wird definiert durch: Körpergrößen-SDS≤ -3,0 und basale IGF-1-Konzentration unterhalb der 2,5. Perzentile für Alter und Geschlecht und Wachstumshormonsuffizienz. Ausschluss der sekundären Formen des IGF-1-Mangels wie Unterernährung, Schilddrüsenunterfunktion oder chronische Behandlung mit pharmakologischen Dosen von anti-inflammatorischen Steroiden. Schwerer primärer IGF-1-Mangel umfasst Patienten mit Mutationen im GH-Rezeptor (GHR), mit Mutationen im Post-GHR-Signalweg und mit IGF-1-Gendefekten; sie haben keinen Wachstumshormonmangel, weshalb nicht zu erwarten ist, dass sie auf eine Behandlung mit exogen gegebenem Wachstums- hormon ausreichend ansprechen. Eine Bestätigung der Diagnose durch einen IGF-1-Generationstest wird empfohlen. Gegenanzeigen: Überempfindlichkeit gegen den Wirkstoff oder einen der sonstigen Bestandteile. Intravenöse Anwendung. Aktives Neoplasma oder Verdacht auf Neoplasma. Falls es Anzeichen für ein Tumorwachstum gibt, muss die Behandlung abgebrochen werden. Benzylalkohol darf bei Früh- oder Neugeborenen nicht angewendet werden. Nebenwirkungen: Sehr häufig: Thymushypertrophie, Kopfschmerzen, Hypakusis, tonsilläre Hypertrophie, Schnarchen, Hypoglykämie, Hypertrophie an der Injektionsstelle. Häufig: Herzgeräusche, abnormale Tympanometrie, abnormales EKG, erhöhte Alaninaminotransferase*, erhöhte Aspartataminotransferase*, Gewichtszunahme, Kardio- megalie, Ventrikelhypertrophie, atriale Hypertrophie*, Tachykardie, paroxysmale Tachykardie*, Mitralklappeninsuffizienz*, Trikuspidalklappeninsuffizienz*, kongenitale Kieferfehlbildung, Pigmentnävus*, Lymphadenopathie*, Krämpfe, fieberhafte Krämpfe*, benigner intrakranieller Hochdruck, Bewusstlosigkeit*, Schlafapnoe, Schwindel, Zittern*, Restless legs*, Papillenödem, reduzierte Sehleistung*, Myopie*, Otorrhoe, Ohrenerkrankung*, Mittelohrerkrankung*, Trommelfellerkrankung*, Ohrenschmerzen, verstopfte Ohren*, Flüssigkeit im Mittelohr, Hypertrophie der Adenoide, Hypertrophie der Nasenmuschel*, Dyspnoe*, Nasenschleimhauterkrankungen*, obstruktive Atemwegserkrankungen*, abnormale Atmung*, verstopfte Nase, Mundatmung, Erbrechen, Brechreiz*, Bauchschmerzen*, Schmerzen im Oberbauch*, abdominale Distension*, Dysphagie*, Nierensteine*, Hydronephrose*, Nierenkolik*, Hauthypertrophie, Akrochordon*, abnormale Haarstruktur*, Arthralgie, Schmerzen in den Extremitäten, Myalgie, Skoliose*, Wirbelsäulendeformität*, Weichteilerkran- kungen*, Muskelkrämpfe*, Flankenschmerz*, Steifheit des Bewegungsapparats*, hypoglykämischer Anfall, Hyperglykämie, Hyperlipidämie*, Adipositas*, fieberhafte Infektion*, Infektion der oberen Atemwege*, Otitis media, seröse Otitis media, chronisch-seröse Otitis media*, Otitis externa*, Pharyngitis*, Tonsillitis, Ohrenentzündung, Mundsoor*, Adenotonsillektomie*, Adenoidektomie, Einsetzen von Ohrröhrchen, Schleimhauthyperplasie, Hypertrophie, Schmerzen an der Injektionsstelle, Bluterguss an der Injektionsstelle, Fibrose an der Injektionsstelle*, Reaktion an der Injektionsstelle*, Schwellung an der Injektionsstelle*, Verhärtung an der Injektionsstelle*, Pigmentveränderung an der Injektionsstelle*, Schleimhautödem*, Asthenie*, Lethargie*, Beschwerden in der Brust*, Gynäkomastie, Eierstock- zyste*, Depression*, Nachtangst, Nervosität, abnormales Verhalten*, Verwirrung* (* = trat bei nur 1 Patienten (1 %) auf). Die nachfolgenden Nebenwirkungen wurden nach Markteinführung von INCRELEX beobachtet. Da diese Nebenwirkungen auf freiwilliger Basis aus einer
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