Ron-el R, Friedler S, Strassburger D, Komarovsky D, Schachter M, Raziel A
IVF and Infertility Unit, Assaf Harofeh Medical Center, Israel.
Hum Reprod. 1999 Feb;14(2):368-70. doi: 10.1093/humrep/14.2.368.
Klinefelter's syndrome is one of the known causes of azoospermia or cryptoazoospermia, and it may present in non-mosaic (47,XXY) or mosaic (47,XXY/46,XY) form. The likelihood of finding spermatozoa in the ejaculate or testicular tissue of patients with mosaic Klinefelter's syndrome is low, and with the non-mosaic form, even lower. We describe a patient with non-mosaic Klinefelter in whom initially non-motile spermatozoa were derived from searching the ejaculate. Ten mature oocytes were injected, but none was fertilized. Subsequently, testicular biopsy was undertaken in order to collect spermatozoa for oocyte injection. Fifteen motile sperm cells were found and injected. Nine oocytes were fertilized and cleaved; three embryos were transferred into the uterine cavity. The woman conceived and following a normal pregnancy delivered a healthy child. Genetic analysis of the neonate disclosed a normal 46,XY karyotype. Non-motile spermatozoa in the ejaculate did not prove their fertilization potential, but their presence did not exclude finding motile, fertile spermatozoa in the testicular tissue in a non-mosaic Klinefelter patient. This report is further evidence that normal spermatozoa with fertilization potential are produced in the testes of patients with Klinefelter's syndrome.
克兰费尔特综合征是无精子症或隐匿性无精子症的已知病因之一，可呈现非嵌合型（47,XXY）或嵌合型（47,XXY/46,XY）。嵌合型克兰费尔特综合征患者的精液或睾丸组织中找到精子的可能性较低，而非嵌合型的可能性更低。我们描述了一名非嵌合型克兰费尔特综合征患者，最初从其精液中找到的是无活力精子。对10个成熟卵母细胞进行了注射，但均未受精。随后进行睾丸活检以采集精子用于卵母细胞注射。发现了15个有活力的精子细胞并进行了注射。9个卵母细胞受精并分裂；3个胚胎被移植到子宫腔。该女性成功受孕，经过正常妊娠后产下一名健康婴儿。对新生儿的基因分析显示其核型正常，为46,XY。精液中的无活力精子并未证明其具有受精潜力，但它们的存在并不排除在非嵌合型克兰费尔特综合征患者的睾丸组织中找到有活力、可受精的精子。本报告进一步证明，克兰费尔特综合征患者的睾丸可产生具有受精潜力的正常精子。
