非嵌合型克氏综合征患者显微取精成功3例报告

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。

Successful microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome: three cases report

Objective: To discuss the method for patients with nonmosaic Klinefelter 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,11.2 IU/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.