摘要
目的:探索非嵌合型克氏综合征(Klinefelter syndrome,KS)患者生育的方法,为此类患者拥有自己遗传学意义的后代寻找出路。方法:对在北京大学第三医院就诊的3位非嵌合型克氏综合征患者实施显微镜下睾丸切开取精术。结果:3例患者,年龄分别为31、36和23岁,均多次检查无精子,双侧睾丸大小分别3 mL、1 mL和4 mL;卵泡刺激素、促黄体生成素均明显升高,睾酮水平均下降;染色体核型均为47,XXY。2例患者在手术中找到形态基本正常的精子,仅行单侧睾丸切开取精术,术后培养后可见活动精子,冷冻保存。1例患者行双侧睾丸切开取精术,手术中未找到精子,术后再次寻找,找到少量精子,培养后未见活动精子,形态差,未冷冻保存。结论:非嵌合型克氏综合征患者虽睾丸小,生精功能减弱,但尚有一部分患者可以通过显微取精的方式获得精子。
Objective ： To discuss the method for patients with nonmosaic Klinefeher syndrome （KS） to father children. Methods： Microdissection testicular sperm extraction （micro-TESE） was performed for three patients with nonmosaic KS in our hospital. Results： Three patients （their ranging from 23 years to 36 years）, were diagnosed with azoospermia after several semen analyses. By palpation, their testis size was estimated about 3 mL, 1 mL, and 4 mL, respectively. Follicle-stimulating hormone （FSH） was 37.2 IU/L, 42.2 IU/L, and 30.5 IU/L, respectively. Luteinizing hormone （LH） was 15.5 IU/L, 11.2IU/L, and 10.1 IU/L, respectively. Testosterone was 1.2 nmol/L, 5.6 nmol/L, and 8.2 nmol/L, respectively. The volume of semen was 0.8 mL, 0. 2 mL, and 0.5 mL, respectively. There was no sperm and fructose was positive. The transrectal B-bilateral showed vas deferens and seminal vesicles were not abnormal. And all the patients had a uniform 47, XXY karyotype. During the operation, normal formation sperms were found in two patients. They only underwent one-side micro-TESE. Active sperms were found after being cultured. The sperms were kept under cryopreservation. The other patient underwent two-side micro-TESE. No sperm was found during the operation. After the operation, a few deformity sperms were found during the second searching. No active sperm was found after being cultured. The sperm wasn＇ t kept under cryopreservation. Conclusion： Although patients with nonmosaic KS have small testis and decreased spermatogenesis, some of them can obtain sperms by micro-TESE instead of accepting artificial insemination by donors.
出处
《北京大学学报（医学版）》
CAS
CSCD
北大核心
2012年第4期547-550,共4页
Journal of Peking University:Health Sciences
