CAJ | 학술논문

目的探讨睾丸发育不全综合症(testicular dysgenesis syndrome,TDS)的幼年期发病(尿道下裂、隐睾)与雄激素受体(Androgen receptor,AR)基因CAG重复长度多态性改变及相关围产因素的关系.方法收集2009年5月至2010年12月共60例尿道下裂、隐睾32例(单侧29例,双侧3例,其中尿道下裂合并单侧隐睾6例)及正常对照组70例,采血提取基因组DNA,检测AR基因CAG重复序列次数；收集围产资料,包括小儿出生时体重及胎龄、母亲分娩时年龄、母孕早期保胎史(黄体酮使用)、是否人工辅助生育、母亲职业、居住地、孕期患妊娠高血压情况,并进行统计分析.结果尿道下裂组和隐睾组CAG重复次数均明显大于对照组(P分别为0.008和0.028)；相关围产因素中,尿道下裂的发生与低出生体重(P=0.003)、母亲低分娩年龄(P=0.007)及孕早期黄体酮使用(P =0.000)有关.隐睾与母亲低分娩年龄(P=0.003)及从事农业生产(P=0.017)有关.结论 TDS 的发生与多因素相关,当AR基因CAG重复次数增加,合并其他相关危险因素,如低出生体重、年轻的母亲,尤其是孕期暴露于雌激素或抗雄激素物质,如黄体酮、杀虫剂等,可能使发生TDS的风险累加而致病.
목적 탐토고환발육불전종합증(testicular dysgenesis syndrome,TDS)적유년기발병(뇨도하렬、은고)여웅격소수체(Androgen receptor,AR)기인CAG중복장도다태성개변급상관위산인소적관계.방법 수집2009년5월지2010년12월공60례뇨도하렬、은고32례(단측29례,쌍측3례,기중뇨도하렬합병단측은고6례)급정상대조조70례,채혈제취기인조DNA,검측AR기인CAG중복서렬차수；수집위산자료,포괄소인출생시체중급태령、모친분면시년령、모잉조기보태사(황체동사용)、시부인공보조생육、모친직업、거주지、잉기환임신고혈압정황,병진행통계분석.결과 뇨도하렬조화은고조CAG중복차수균명현대우대조조(P분별위0.008화0.028)；상관위산인소중,뇨도하렬적발생여저출생체중(P=0.003)、모친저분면년령(P=0.007)급잉조기황체동사용(P =0.000)유관.은고여모친저분면년령(P=0.003)급종사농업생산(P=0.017)유관.결론 TDS 적발생여다인소상관,당AR기인CAG중복차수증가,합병기타상관위험인소,여저출생체중、년경적모친,우기시잉기폭로우자격소혹항웅격소물질,여황체동、살충제등,가능사발생TDS적풍험루가이치병.
Objective To explore the relationships among the occurrence ofteaticular dysgenesis syndrome with hypospadias and cryptorchidism,the polymorphic androgen-receptor CAG repeat and associated perinatal factors.Methods Blood samples were collected from 60 hypospadias,32 cryptorchidism (unilatcral 29 and bilateral 3,6 of them combined with hypospadias) and 70 normal boys as control between May 2009 and Dec 2010.CAG repeat lengths of androgen receptor were measured.The perinatal data collected included birth weight and gestational age; mother's age,history of tocolysis in early trimester (the use of progesterone),assisted reproduction,mother's occupation,habitation and history of gestational hypertension.All data were statistically analyzed.Results The CAG repeat length of hypospadias and cryptorchidism were significantly longer than the control (P =0.008 and 0.028 respectively).Low birth weight of infants (P =0.003),mother's age (P =0.007) and the use of progesterone (P =0.000) were found to be risk factors for hypospadias.Mother's age (P =0.003)and agriculturalactivities (P =0.017) were risk factors for cryptorchidism.Conclusions The occurrence oftesticular dysgenesis syndrome is associated with multiple factors.The AR gene CAG repeat length,low birth weight,young mother,especially exposure to estrogen,anti-androgen substances,such as progesterone and pesticide all contribute to an increased risk of the occurrence of testicular dysgenesis syndrome.