High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism
High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism
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DOI：
10.1590/1414-431x20198980
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发表时间：
2020-01-01
影响因子：
2.3
通讯作者：
Liu, Ruizhi
中科院分区：
文献类型：
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作者：
Li, Leilei;Zhang, Han;Liu, Ruizhi
嵌合体45，X/46，XY核型是不育男性常见的性染色体异常。具有这种嵌合核型的男性可以从辅助生殖治疗中受益，但传递的异常包含45，X非整倍体以及Y染色体微缺失。本研究旨在探讨中国男性45，X/46，XY嵌合体不育患者的临床和遗传学特征。在734例男性不育患者中，14例为45，X/46，XY嵌合体或其变异体，检出率为0.27%（14/5269），占染色体异常患者的1.91%（14/734）。45，X嵌合体中有10例（71.43%，10/14）存在AZF微缺失。例1和例4为AZFc缺失，其余8例为AZFb + c缺失。在45，X/46，XY嵌合型男性患者中检测到高频率的Y染色体微缺失。对于45，X/46，XY嵌合体所致精子生成低下的患者，应进行胚胎植入前遗传学诊断，以避免AZF微缺失和X单体遗传给男性后代的风险。
The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb + c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.