肯尼迪病伴非梗阻性无精子症显微睾丸取精成功生育1例报道及文献复习  

Fatherhood achieved in a case of nonobstructive azoospermia with Kennedy’s disease via microdissection testicular sperm extraction and ICSI: A case report and literature review

作　　者：刘阳 杨竣 刘继红[2,3] 靳镭[4] LIU Yang;YANG Jun;LIU Ji-hong;JIN Lei(Department of Neurology,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China;Department of Urology,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China;Research Institute of Urology,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China;Center of Reproductive Medicine,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院神经内科,湖北武汉430030 [2]华中科技大学同济医学院附属同济医院泌尿外科,湖北武汉430030 [3]华中科技大学同济医学院附属同济医院泌尿外科研究所,湖北武汉430030 [4]华中科技大学同济医学院附属同济医院生殖医学专科,湖北武汉430030

出　　处：《中华男科学杂志》2020年第7期625-630,共6页National Journal of Andrology

摘　　要：目的:探讨肯尼迪病(KD)伴非梗阻性无精子症患者生育遗传学意义后代的可行性及相关文献复习。方法:对1例因"发现下肢无力1年"就诊的28岁男性患者进行查体及实验室检查,后因生育要求,发现为无精子症,进行相关检查后尝试显微切开睾丸取精术。结果:患者初诊查体:双下肢近端肌力4级,远端肌力4+级。实验室检查:肌酸激酶432 U/L,FSH 18.1 IU/L,LH 10.4 IU/L,T 8.6 nmo/L。肌电图提示腓总运动神经传导速度减慢,检雄激素受体(AR)基因发现其第一外显子区的CAG重复序列为56次,诊断KD明确。后因生育要求,多次精液分析提示无精子,精浆生化正常,查体双侧睾丸体积小,双侧乳房轻度发育。染色体核型和Y染色体微缺失正常,双侧睾丸穿刺:未见精子,确诊为KD伴非梗阻性无精子症。患者行显微切开睾丸取精术,同时配合女方取卵后,行ICSI,并随访,观察其配偶妊娠情况。显微切开睾丸取精术中找到少量活动精子,次日女方取卵后行ICSI,3 d后移植1枚新鲜胚胎,剩余2枚鲜胚冷冻。移植后第14天进行血β-hCG检查,β-hCG为873 IU/L,移植后第4周进行B超检查,提示:宫内见胎心和胎芽,诊断为临床妊娠。女方于孕38周+2 d,在当地医院通过剖腹产,顺利产下1健康男婴。结论:KD伴非梗阻性无精子症患者,通过显微切开睾丸取精及ICSI,可以成功生育自己的遗传学后代。Objective:To explore the feasibility of biological fatherhood in nonobstructive azoospermia patient with Kennedy’s disease and review the relevant literature.Methods:A twenty-eight man complaining of weakness in the lower extremities for a year underwent physical and laboratory examinations and was found with azoospermia.At the request of the patient for assisted reproduction,we performed microdissection testicular sperm extraction(micro-TESE).Results:Physical examination showed grade-4 and grade-4+muscular strength in the proximal and distal lower extremities,respectively.The levels of Creatine kinase(CK),serum follicle-stimulating hormone(FSH),luteinizing hormone(LH)and testosterone(T)of the patient were 432 U/L,18.1 IU/L,10.4 IU/L and 8.6 nmo/L,respectively.The peroneal motor nerve conduction velocity was significantly decreased.Examination of the androgen receptor(AR)gene revealed 56 CAG repeats in exon 1,which confirmed Kennedy’s disease.The patient was found with testicular atrophy and mild gynecomastia but normal seminal plasma biochemical parameters and peripheral karyotype and no Y chromosome microdeletion.Some sperm were found in micro-TESE though none in the previous testicular biopsy.Immunoradiometric assay showed a serumβ-HCG level of 873 IU/L at 2 weeks and ultrasonography manifested clinical pregnancy at 4 weeks after in vitro fertilization-embryo transfer following intracytoplasmic sperm injection(ICSI).At 38 weeks and 2 days of gestation,a healthy boy was born by caesarean in a local hospital.Conclusion:Nonobstructive azoospermia patients with Kennedy’s disease can achieve biological fatherhood via micro-TESE and ICSI.

关 键 词：肯尼迪病 雄激素不敏感 非梗阻性无精子症 X连锁的隐性遗传病 显微切开睾丸取精术 卵细胞胞质内单精子注射 遗传咨询 

分 类 号：R698+.2[医药卫生—泌尿科学]