46,XX男性性反转综合征患者生殖遗传分析  

Reproductive and genetic analyses of 46,XX male syndrome

作　　者：杨欢利[1] 诸溢扬[1] 阮琰[1] 陈辉波[1] 吴为玲[1] 

机构地区：[1]浙江省台州医院生殖中心,浙江台州317000

出　　处：《中国卫生检验杂志》2016年第19期2799-2801,共3页Chinese Journal of Health Laboratory Technology

基　　金：台州市科技计划项目(14SF03)

摘　　要：目的分析46,XX男性性反转综合征患者生殖临床表型及遗传学特征,探讨其发生机制及诊疗要点。方法分别对2例患者染色体核型、性别决定基因(SRY)及无精子因子(AZF)进行检测,获取遗传信息;同时进行精液、精浆生化分析、生殖激素及性腺发育检测获取相关的临床表型信息,并综合分析患者的遗传类型和临床表型。结果 2例患者社会性别均为男性,患者1第二性征明显,患者2第二性征模糊。精液检查均为无精子症,FSH、LH均上升,T及E2均下降。2例患者染色体核型均为46,XX型,AZF区检测显示AZF a、b、c区基因位点全部缺失,其中病例1 SRY基因存在,病例2 SRY基因缺失。结论 SRY基因检测可为性反转综合征患者的临床诊断及早期治疗提供依据;Y染色体AZF区检测可明确不育的原因,为不育的治疗提供依据。Objective To investigate the clinical reproductive phenotype and genetic characteristics of 46,XX male syndrome,and to explore the mechanism and treatment. Methods The chromosome karyotype,sex-determing gene and microdeletions of the Y chromosome（ AZF） of two patients were determined respectively to obtain the genetic information. Meanwhile,the seminal and plasma biochemistry,and the detection of reproductive hormone,gonadal development were conducted to obtain the clinical phenotype characteristics. Then the genetic phenotype and the clinical phenotype were comprehensively analyzed. Results The two patients were all sociopsychologically males in clinical phenotype. The secondary sexual character of case 1 was evident and case 2 was ambiguous. Semen analysis showed complete azoospermia. The follicle stimulating hormone（ FSH） and luteinizing hormone（ LH） increased,and testosterone（ T） and estradiol（ E2） decreased. Chromosome karyotyping of two patients showed apparent 46,XX chromosome complement. No amplification of the AZFa,AZFb,AZFc region were identified and the SRY gene was identified in case 1 and lost in case 2. Conclusion The detection of SRY can provide basis for clinical diagnosis and early treatment of 46,XX male syndrome. The detection of AZF region of Y chromosome can identify the reason and provide basis for the treatment of infertility.

关 键 词：46 XX 男性性反转综合征 Y染色体微缺失 SRY基因 

分 类 号：R596[医药卫生—内科学]