Kim Shin Y, Lee Bom Y, Oh Ah R, Park So Y, Lee Hyo S, Seo Ju T
Laboratory of Medical Genetics, Medical Research Institute, Dankook University College of Medicine, Seoul, Korea.
Cytogenet Genome Res. 2017;153(4):190-197. doi: 10.1159/000487039. Epub 2018 Feb 22.
To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.
为了研究特发性非梗阻性无精子症（NOA）或无精子症克氏综合征（KFS）不育男性的临床、激素和遗传因素，本研究分别纳入了556例和96例患者。对所有患者样本进行了细胞遗传学分析。检测血清生殖激素水平。使用16个特异性序列标签位点通过多重PCR检测Y染色体无精子症因子（AZF）区域的微缺失。NOA和KFS患者的促卵泡生成素（FSH）和促黄体生成素（LH）水平均显著高于正常范围，KFS患者的睾酮水平显著降低。92例（95.8%）KFS患者表现为非嵌合型47,XXY核型和47,XXY,inv(9)(p11.1q13)；其他KFS患者具有47,XXY/46,XY、47,XXY/46,XX和47,XXY/48,XXXY/46,XX的嵌合核型。在556例核型正常的特发性NOA患者中，67例（12.05%）Y染色体AZF区域存在微缺失。微缺失最常出现在AZFc区域，其次是AZFa、AZFb、AZFbc和部分AZFc缺失。然而，在任何无精子症KFS患者中均未发现Y染色体微缺失。鉴于特发性NOA和无精子症KFS不育男性存在激素和遗传异常，提倡进行核型、Y染色体微缺失和激素参数的基因检测。
