Ravel C, Chantot-Bastaraud S, Cretet J, Roynard P, Sibony M, Maurin N, Belaud-Rotureau M-A, Berthaut I
UPMC, service d'histologie-biologie de la reproduction-CECOS, hôpital Tenon, AP-HP, 4 rue de la Chine, Paris, France.
Gynecol Obstet Fertil. 2011 Sep;39(9):525-8. doi: 10.1016/j.gyobfe.2011.07.003. Epub 2011 Aug 10.
Klinefelter syndrome is defined by the presence of a supernumerary X chromosome in a phenotypic male. It is the most frequent gonosomic anomaly in infertile men with an incidence of 0.1 to 0.2% in newborn males. The presence of an additional X chromosome induces spermatogenic failure but when gametes are present, they are usually normal. The risk of transmission of the chromosomal anomaly remains low. In the literature, only one 47,XXY foetus resulting from more than a hundred births from fathers with Klinefelter syndrome, has been reported. One can estimate, that a TESE performed in half of the patients with non-mosaic 47,XXY will be positive and may enable IVF/ICSI to be achieved.
克兰费尔特综合征的定义是表型为男性但存在一条额外的X染色体。它是不育男性中最常见的性染色体异常，在新生男性中的发病率为0.1%至0.2%。额外X染色体的存在会导致生精功能衰竭，但当存在配子时，它们通常是正常的。染色体异常的传递风险仍然较低。在文献中，仅报道了一例由患有克兰费尔特综合征的父亲生育的一百多例后代中出现的47,XXY胎儿。可以估计，对一半非嵌合型47,XXY患者进行的睾丸切开取精术将获得阳性结果，并可能实现体外受精/卵胞浆内单精子注射。
