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AZF基因微缺失:病例系列及文献综述

AZF gene microdeletions: case series and literature review.

作者信息

Gallego A, Rogel R, Luján S, Plaza B, Delgado F, Boronat F

机构信息

Servicio de Urología, Hospital Universitari i Politècnic La Fe, Valencia, España.

Servicio de Urología, Hospital Universitari i Politècnic La Fe, Valencia, España.

出版信息

Actas Urol Esp. 2014 Dec;38(10):698-702. doi: 10.1016/j.acuro.2014.04.003. Epub 2014 Jun 19.

DOI:10.1016/j.acuro.2014.04.003
PMID:24954841
Abstract

OBJECTIVE

Aproximately 10% of patients with non-obstructive azoospermia and 5% with non-obstructive severe oligozoospermia carry AZF region microdeletions (AZoospermic Factor) in the Y chromosome. The aim of this study is to analize the clinical and pathological findings in this group of patients and compare them with the previous evidence.

MATERIAL AND METHODS

Retrospective study of 11 patients with diagnosis of azoospermia or oligozoospermia and the presence of AZFa, AZFb, AZFc microdeletions or any combination of them.

RESULTS

Microdeletions of AZFc region were found in 45% of cases, AZFa in 33% and a 10% showed a deletion of the three regions (a,b and c). 91% of them demonstrated azoospermia with low testicular volume in 62,5% cases.

CONCLUSION

Microdeletions of AZF regions are associated with azoospermia and a low expectation of sperm retrieval in testicular biopsy. On the other hand, they seem not related with significative modifications on the hormone profile.

摘要

目的

约10%的非梗阻性无精子症患者和5%的非梗阻性严重少精子症患者存在Y染色体AZF区域微缺失(无精子症因子)。本研究的目的是分析该组患者的临床和病理表现,并与先前的证据进行比较。

材料与方法

对11例诊断为无精子症或少精子症且存在AZFa、AZFb、AZFc微缺失或其任意组合的患者进行回顾性研究。

结果

45%的病例发现AZFc区域微缺失,33%发现AZFa微缺失,10%显示三个区域(a、b和c)均有缺失。其中91%表现为无精子症,62.5%的病例睾丸体积较小。

结论

AZF区域微缺失与无精子症以及睾丸活检中精子获取的低期望相关。另一方面,它们似乎与激素水平的显著改变无关。

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Histology and sperm retrieval among men with Y chromosome microdeletions.Y染色体微缺失男性的组织学与精子获取情况
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Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China.中国南方无精子症和严重少精子症客家不育男性的分子和细胞遗传学分析
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