Department of Medical Genetics, Faculty of Medicine, Recep Tayyip Erdogan University, Rize, Turkey.
Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey.
Andrologia. 2022 Oct;54(9):e14489. doi: 10.1111/and.14489. Epub 2022 Jun 7.
Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.g., microdeletions and microduplications). This study aimed to investigate aetiology in patients with idiopathic azoospermia by using the chromosomal microarray method to detect possible sub chromosomal changes. Twenty-eight patients (with a mean age of 30.4 ± 9 years) that had been diagnosed with idiopathic azoospermia between January 2019 and December 2020 were included in the study. Genomic DNA isolated from the blood of patients were amplified using polymerase chain reaction and was subjected to chromosomal microarray analysis. A total of six microdeletions were identified as clinically significant: one pathogenic copy number variation (CNV), four likely pathogenic CNVs, and one CNV of unknown clinical significance. However, clinical findings indicated that these microdeletions, with variable expression levels, may affect the spermatogenesis process and induce azoospermia. Future investigations regarding the functional effect of these deletions may contribute to our understanding of azoospermia aetiology.
在男性不育病因中，无精子症占很大比例。虽然已知的遗传异常可能解释了大约三分之一的不育病例，但确切病因仍不清楚。染色体微阵列广泛用于检测亚染色体异常（例如微缺失和微重复）。本研究旨在通过使用染色体微阵列方法检测可能的亚染色体变化，来探讨特发性无精子症的病因。研究纳入了 28 名（平均年龄 30.4±9 岁）2019 年 1 月至 2020 年 12 月被诊断为特发性无精子症的患者。从患者血液中提取的基因组 DNA 通过聚合酶链反应扩增，并进行染色体微阵列分析。共发现 6 个微缺失具有临床意义：1 个致病性拷贝数变异（CNV），4 个可能致病性 CNV，1 个 CNV 临床意义不明。然而，临床发现这些微缺失，具有不同的表达水平，可能影响精子发生过程并导致无精子症。对这些缺失的功能影响的进一步研究可能有助于我们了解无精子症的病因。
