CAJ | 학술논문

目的探讨不同类型染色体异常对男性不育的影响. 方法对2006年5月至2012年5月吉林大学第一医院生殖医学中心进行遗传咨询的2034例男性不育患者行染色体检查,同时行精液常规检查和生殖激素检测. 结果 2034例男性不育患者中检出染色体核型异常267例,检出率为13.13％.267例患者中行精液常规检查258例,其中无精子症190例,少精子症58例,精液正常10例.267例患者包括染色体数目异常169例(63.30％),以无精子症为主,其中克氏综合征157例(58.80％),超雄综合征7例(2.62％),特纳综合征4例(1.50％),mar染色体1例(0.37％)；结构异常49例(18.35％),以少精子症为主,其中染色体易位32例(11.99％),倒位17例(6.37％)；性反转4例(1.50％),均为无精子症；染色体多态45例(16.85％),以少精子症为主.对不同精液结果的非嵌合型克氏综合征患者年龄、睾丸体积、精液量及血清生殖激素进行比较,仅年龄差异有统计学意义(P＜0.05). 结论染色体异常是造成男性精液异常、导致男性不育的重要遗传学病因,对男性不育患者行染色体检查是必要的.
목적 탐토불동류형염색체이상대남성불육적영향. 방법 대2006년5월지2012년5월길림대학제일의원생식의학중심진행유전자순적2034례남성불육환자행염색체검사,동시행정액상규검사화생식격소검측. 결과 2034례남성불육환자중검출염색체핵형이상267례,검출솔위13.13％.267례환자중행정액상규검사258례,기중무정자증190례,소정자증58례,정액정상10례.267례환자포괄염색체수목이상169례(63.30％),이무정자증위주,기중극씨종합정157례(58.80％),초웅종합정7례(2.62％),특납종합정4례(1.50％),mar염색체1례(0.37％)；결구이상49례(18.35％),이소정자증위주,기중염색체역위32례(11.99％),도위17례(6.37％)；성반전4례(1.50％),균위무정자증；염색체다태45례(16.85％),이소정자증위주.대불동정액결과적비감합형극씨종합정환자년령、고환체적、정액량급혈청생식격소진행비교,부년령차이유통계학의의(P＜0.05). 결론 염색체이상시조성남성정액이상、도치남성불육적중요유전학병인,대남성불육환자행염색체검사시필요적.
Objective To describe different types of chromosomal abnormalities on male infertility.Methods From May 2006 to May 2012,2034 infertile males with genetic counseling underwent chromosome karyotype analysis,semen routine examination and reproductive hormones levels detection.The data from them were analyzed.Results 267 cases of chromosomal abnormalities were detected in 2034 cases (13.13％).258 cases underwent semen routine examination in 267 cases with chromosomal abnormalities,of which 190 cases of azoospermia,58 cases of oligozoospermia,10 cases of semen normal.In 267 cases of chromosomal abnormalities,including 169 cases (63.30％) of number abnormalities,mainly with azoospermia,157 cases of Klinefelter syndrome (KS) (58.80％),7 cases of 47,XYY (2.62％),4 cases of Turner syndrome (1.50％),1 case of marker chromosome (0.37％) ; 49 cases (18.35％) of structural abnormalities mainly with oligozoospermia,including 32 cases of chromosomal translocations (11.99％),17 cases of inversion (6.37％) ; 4 cases of sex reversal (1.50％) with azoospermia; 45 cases of chromosome polymorphism (16.85％) mainly with oligozoospermia.Non-mosaicism KS patients' age,testicular volume,semen volume,and serum reproductive hormones levels were compared between different groups of semen results,and there were no significant difference except age.Conclusions Chromosome abnormalities were the most important genetic causes of abnormal semen quality and male infertility.It is necessary to be performed chromosome karyotype analysis for infertile males.