Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions
Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions
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DOI：
10.1093/humrep/deg348
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发表时间：
2003-08-01
影响因子：
6.1
通讯作者：
Schlegel, PN
中科院分区：
文献类型：
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作者：
Hopps, CV;Mielnik, A;Schlegel, PN
背景：Y染色体微缺失与严重的男性因素性不育症有关。在本研究中，测定了AZF区a、b或c缺失的男性睾丸取精成功率。方法：对Yq中强调AZFa、b和c区域的30个序列标记位点进行PCR检测AZF缺失。精液分析和诊断性睾丸活检或睾丸精子提取（TESE）结果与特定AZF区域缺失相关。结果：共有78例AZF缺失患者，其中AZFa缺失3例，AZFb缺失11例，AZFc缺失42例，AZFb+c缺失16例，Yq （AZFa+b+c）缺失6例。所有AZFa、AZFb、AZFb+c和Yq缺失的男性均为无精子，TESE或活检均未发现精子。在分离AZFc缺失的男性中，75%（9/12）通过TESE发现精子，45%（9/20）活检发现精子（总体56%）；62%（26/42）为无精子，38%（16/42）为严重少精子。共有7例缺失模式患者（包括完整AZFa区域）和23例包括完整AZFb区域的患者（接受TESE或活检）没有通过这些手术措施检测到精子。结论：Y染色体整个AZFa或AZFb区域的微缺失预示着精子提取的预后异常差，而大多数AZFc缺失的男性精液或睾丸中有精子可用于IVF/ICSI。
BACKGROUND: Y chromosome microdeletions are associated with severe male factor infertility. In this study, the success rate of testicular sperm retrieval was determined for men with deletions of AZF regions a, b or c. METHODS: AZF deletions were detected by PCR of 30 sequence-tagged sites within Yq emphasizing the AZFa, b and c regions. Semen analysis and diagnostic testis biopsy or testicular sperm extraction (TESE) findings were correlated with the specific AZF region deleted. RESULTS: A total of 78 men with AZF deletions included three with AZFa deletion, 11 with AZFb, 42 with AZFc, 16 with AZFb+c and six with Yq (AZFa+b+c). All men with AZFa, AZFb, AZFb+c and Yq deletions were azoospermic and no sperm were found with TESE or biopsy. Of men with isolated AZFc deletion, sperm were found in 75% (9/12) by TESE and 45% (9/20) on biopsy (56% overall); 62% (26/42) were azoospermic and 38% (16/42) severely oligozoospermic. A total of 7 patients with deletion patterns that included the complete AZFa region and 23 that included the complete AZFb region who underwent TESE or biopsy did not have sperm detected by these surgical measures. CONCLUSIONS: Microdeletion of the entire AZFa or AZFb regions of the Y chromosome portends an exceptionally poor prognosis for sperm retrieval, whereas the majority of men with AZFc deletion have sperm within the semen or testes available for use in IVF/ICSI.