Miraghazadeh Azam, Sadighi Gilani Mohammad Ali, Reihani-Sabet Fakhredin, Ghaheri Azadeh, Borjian Boroujeni Parnaz, Zamanian Mohammadreza
Department of Molecular and Cellular Sciences, Faculty of Advanced Sciences and Technology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Int J Fertil Steril. 2019 Jan;12(4):298-302. doi: 10.22074/ijfs.2019.5397. Epub 2018 Oct 2.
Microdeletions of the Yq chromosome are among the most frequent genetic etiological factor of male infertility which spans the azoospermia factor regions (AZFa, AZFb and AZFc). Microdeletions are mostly seen in the AZFc region and usually cover genes actively involved in spermatogenesis. Partial AZFc microdeletions may also occur with various spans, namely gr/gr, b2/b3 and b1/b3. It is known that the outcome of microtesticular sperm extraction (TESE), the surgical process for sperm retrieval from the testis in infertile azoospermic men, may be predicted based on the type of AZF microdeletion. We therefore aimed to evaluate the correlation between partial AZFc microdeletions and microTESE results.
In this cross-sectional study, 200 infertile azoospermic men referred to the Royan Institute were examined for the presence of partial AZFc microdeletions before undergoing microTESE. Partial AZFc microdeletions were detected by multiplex polymerase chain reaction (PCR) of seven different sequence-tagged site (STS) markers. The data were analyzed with the Chi-square test.
Among the 90 patients (45%) with a positive microTESE outcome, 9 (10%) showed a partial microdeletion in AZFc region. Of the 110 (55%) patients with a negative microTESE outcome, 7 (6.3%) had an AZFc partial microdeletion. With respect to the span of the microdeletions, among the 200 patients, 11 (5.5%) were gr/gr and 5 (2.5%) were b2/b3. Statistical analysis showed no significant difference between the patients with and without partial AZFc microdeletions with respect to microTESE outcome.
Partial AZFc microdeletions is not a predictor of microTESE outcome in azoospermic men.
Yq染色体微缺失是男性不育最常见的遗传病因之一,其跨越无精子症因子区域(AZFa、AZFb和AZFc)。微缺失大多见于AZFc区域,通常涵盖参与精子发生的活跃基因。部分AZFc微缺失也可能以不同跨度出现,即gr/gr、b2/b3和b1/b3。已知可根据AZF微缺失类型预测显微睾丸精子提取术(TESE)的结果,这是一种从不育无精子症男性睾丸中获取精子的手术过程。因此,我们旨在评估部分AZFc微缺失与显微TESE结果之间的相关性。
在这项横断面研究中,对转诊至罗扬研究所的200例不育无精子症男性在接受显微TESE之前进行了部分AZFc微缺失检测。通过对7种不同的序列标签位点(STS)标记进行多重聚合酶链反应(PCR)检测部分AZFc微缺失。采用卡方检验对数据进行分析。
在显微TESE结果为阳性的90例患者(45%)中,9例(10%)显示AZFc区域存在部分微缺失。在显微TESE结果为阴性的110例患者(55%)中,7例(6.3%)存在AZFc部分微缺失。关于微缺失的跨度,在200例患者中,11例(5.5%)为gr/gr,5例(2.5%)为b2/b3。统计分析显示,有无部分AZFc微缺失的患者在显微TESE结果方面无显著差异。
部分AZFc微缺失并非无精子症男性显微TESE结果的预测指标。