[PS-114]Oturum adı: POSTER SESSION 2 | Oturum salonu: POSTER AREA | Oturum tarihi: 23 Ekim 2015 | Oturum saati: 14:00 - 19:00Non-mosaik Klinefelter Sendromun da Farklı Bir Klinik Prezantasyon: İkiz gebelik ve Time Lapse (Embryoscopic©) takipAli Sami Gürbüz1, Ahmet Salvarci2, Necati Özçimen3, Ayşegül Zamani42Novafertil Tüp Bebek Ünitesi, Üroloji Bölümü, Konya, Türkiye 3Medikana Konya Tüp Bebek Ünitesi, Konya, Turkey 4Necmettin Erbakan Üniversitesi Medikal Genetik Bölümü, Konya, Türkiye AMAÇ: Klinefelter sendromu erkekte en sık rastlalana kromozomal anomali. Non mozaik tipte intrasitopalzmik enjeksiyonla ejekülat yada testis sperminden gebelik mümkün olabilmektedir METOD: Prime inferti 34 yaşında erkek; fiziksel muayene, semen analizi, periferal kanda kromozom ananlziz ve AzF delesyonu bakıldı. FISH (Floresan In Situ Hybridization) ejekülatta gametlere bakıld. Embryonik monitorizasyon (time lapse) and Preimplanation genetic analiz (PGT) aileye tavsiye edildi ve Cilt biopsisi non mosaizm doğrulamak için ilave edildi. BULGULAR: Hasta 9 yıllık evli medikal tedaviler ve tek taraflı varikosel cerrahisi geçirmişti. Tetsi volümleri skrotal ultrasonda 21x22x19 mm.Semen analizinde, volum 3.4 cc, sayı 2X10 6 /ml, 73% inmotile, 99% baş ve boyun anamaliliydi. Hastaya deri biopsi dahil kanda nonmosaik 47,XXY Klinefelter syndrome tanısı konuldu. AzF deletion yok ve SRY+.. Ejekülat FISH testinde 38.27 % normal,53.11% anaormal gametler bulundu. Transfer öncesi PGD de 6 embriyoda sayısal ve yapısal kromozomal anomalileri bulundu ve 2 embriyo normal idi. Bu normal PGT li embriyolar time lapse tarafındanda morfokinetiği normal olan embriyolardı. Transfer sonrası 12. günde gebelik pozitif geldi ve 7. gebelik haftasında ikiz gebelik usg ile gözlendi. 37. haftada sezaryanla 2425 g 48 cm 46,XX kız ve 2812 g, 50 cm boyunda 46,XY erkek canlı doğum gerçekleştrildi. SONUÇ: Non-mosaik Klinefelter syndromunda fresh ejekülat spermi kullanılarak ikiz canlı doğum gözlendi. PGT ile embriyoların kromozamal yapıları doğrulanması yanında time lapse yapısal ve kromozomal bozukluk seçmede ilk olarak objektif destekçi yardımcı bir yöntem olarak kullanılmış oldu. A Different Clinical Presentation in Non-Mosaic Klinefelter Syndrome: Twin Pregnancy and Time Lapse (Embryoscopic©) Follow-UpAli Sami Gürbüz1, Ahmet Salvarci2, Necati Özçimen3, Ayşegül Zamani42Novafertil IVF Centers, Department of Urology, Konya, Turkey 3Medıcana Konya IVF Center, Konay, Turkey 4Necmettin Erbakan Universty Department of Medical Genetıc, Konya,Turkey OBJECTIVE: Klinefelter syndrome is the sex chromosome impairment occurring most frequently in males.In Non-mosaic types, viable births have been reported following intracytoplasmic sperm injection (ICSI) with ejaculate and testis sperm. Metodolgy: 34 years old and primary infertile; physical examination, semen analysis, in peripheral blood culture looked chromosomal banding and AzF deletion. FISH (Floresan In Situ Hybridization) performed in ejaculate. Embryonic monitorization (time lapse) and Preimplanation genetic analayz (PGD). was recommended to the family. Skin biopsy RESULTS: He was married for 9 years and underwent medical treatment many times and unilateral varicoselectomy for infertility.Testes were measured at the size of 21x22x19 mm by scrotal ultrasonography. In semen analysis, volume was found to be 3.4 cc, concentration 2X10 6 /ml, 73% immotile, 99% with head and neck anomaly. The patient was diagnosed with nonmosaic 47,XXY Klinefelter syndrome and AzF deletion was absent and SRY+. Non-mosaic 47, XXY karyotype was confirmed in skin biopsy tissue cultures, non-mosaic 47, XXY karyotype was confirmed. FISH in ejaculate was releaved 38.27 % normal,53.11% anaormal gamet. In the biopsies made on 6 embryos on the third day, numerical and structural chromosomal abnormalies were found with by FISH test before transfer.PGD results were normal only in 2 embryos with normal morphokinetics in embryoscope and they were transferred. For the clinical confirmation of pregnancy, ultrasonographic examination was carried out on the 7th week of pregnancy and 2 gestational sacs and fetal heart beat were observed. On the 37 th week a boy, weight 2425 g, length 48 cm and a girl, weight 2812 g, length 50 cm were delivered via ceserian section. Peripheral leukocyte chromosome analysis of the infants were at 46 XX and 46 XY karyotype. CONCLUSION: In conclusion, in a patient with non-mosaic Klinefelter syndrome, using fresh ejaculate sperm and with the contribution of time-lapse and PGD, twin pregnancy and viable live birth was obtained with embryos having sound structure and number. |