【摘 要】
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Klinefelter syndrome(KS),described for the first time in 1942,is the most common chromosome aneuploidy in men,affecting from 1/500 to 1/1000 newborn males,and it frequently causes azoospermia.In the majority of cases,KS patients present a nonmosaic karyot
【机 构】
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Private Hospital Villa Mafalda,Center for Reproductive Medicine,5 Monte delle Gioie St.,Rome 00199,I
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Klinefelter syndrome(KS),described for the first time in 1942,is the most common chromosome aneuploidy in men,affecting from 1/500 to 1/1000 newborn males,and it frequently causes azoospermia.In the majority of cases,KS patients present a nonmosaic karyotype 47,XXY or a mosaic 47,XXY/46,XY karyotipe.1KS is characterized usually by gynecomastia,small testes,and alteration of germinal epithelium and Sertoli cell.rnThe retrospective study by Tong et al.2 evaluated the clinical outcomes of patients with nonmosaic KS and nonobstructive azoospermia(NOA)undergoing preimplantation genetic test(PGT)with frozen-thawed testicular sperm.The study population included 18 couples,of these 13 presented euploid embryos and completed 14 frozen embryo transfer cycles.Ten couples had clinical pregnancies,and 6 of them had already delivered 5 healthy babies and 1 monozygotic twin.There were also 4 ongoing pregnancies and 2 biochemical pregnancies.The authors concluded that paternal genetic risk of sex chromosome abnormalities in nonmosaic KS offspring is extremely low in men with KS.
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