非嵌合型克氏综合征显微睾丸取精术后临床妊娠1例报告及文献复习

Successful clinical pregnancy derived from microdissection testicular sperm extraction in a patient with nonmosaic Klinefelter syndrome associated with ICSI:a case report and literature review

目的探讨非嵌合型克氏综合征患者生育遗传学意义后代的可行性。方法 1例就诊于华中科技大学同济医学院附属同济医院的男性患者,年龄29岁,多次精液分析提示无精子,查体双侧睾丸体积小,质硬,约2ml。性激素水平:卵泡刺激素37.34IU/L,黄体生成素15.69IU/L,明显升高;睾酮2.13ng/ml,稍微偏低。查染色体核型为47,XXY,Y染色体微缺失正常,确诊为非嵌合型克氏综合征。行显微睾丸取精术,同时配合女方取卵后行卵细胞胞质内单精子注射(intracytoplasmic sperm injection,ICSI),随访1个月,观察患者术后并发症及其配偶妊娠情况。结果显微睾丸取精术中找到少量活动精子,次日女方取卵后行ICSI,3d后移植2枚新鲜胚胎。术后患者未出现阴囊血肿、感染等并发症,术后随访1个月患者睾酮水平较术前偏低,但性功能未受到影响。女方移植后2周查血HCG,为801mIU/ml;移植后4周超声提示宫内早孕,单胎,胚胎存活。结论非嵌合型克氏综合征患者可通过显微睾丸取精术获取精子,同时配合ICSI技术,生育自己遗传学意义的后代。

Objective To explore the feasibility of biological fatherhood in patients with non- mosaic Klinefelter syndrome. Methods Serum follicle-stimulating hormone and luteinizing hor- mone levels were 37.34 IU/L and 15.69 IU/L respectively in the patient who came for treatment in Tongji hosptial. Testosterone level was 2.13 ng/ml. Peripheral karyotype identifies cells with a 47, XXY complement. No Y chromosome mierodeletion was found. Mierodissection testicular sperm ex- traction （miero-TESE） was performed for the patient with Klinefelter syndrome on the day before oocyte retrieval during a programmed in vitro fertilization cycle in our hospital. The couple was fol- lowed up visits for one month to observe the complications and pregnancy. Results Spermatozoa were observed in our surgical procedures. Neither scrotum hematoma nor infection was found after surgery. Testosterone level was reduced in first month. Clinical pregnancy was found 4 weeks after the procedure. Conclusions Patients with nonmosaic Klinefelter syndrome had chances of fathering children by the use of micro-TESE/ICSI techniques.