Mitra Anurag, Dada Rima, Kumar Rajeev, Gupta Narmada Prasad, Kucheria Kiran, Gupta Satish Kumar
Gamete Antigen Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India.
Asian J Androl. 2006 Jan;8(1):81-8. doi: 10.1111/j.1745-7262.2006.00083.x.
To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS).
Blood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization (FISH) and measurement of plasma follicle stimulating hormone (FSH) by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction (PCR) of 16 sequence tagged sites (STS) and three genes (DFFRY, XKRY and RBM1Y) was performed on isolated genomic DNA. Testicular fine needle aspiration cytology (FNAC) was done in selected cases.
Y chromosome microdeletions spanning the azoospermia factor (AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels.
Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques.
研究克氏综合征（KFS）无精子症患者Y染色体微缺失的发生情况。
收集KFS无精子症患者（n = 14）及有生育能力男性对照组（n = 13）的血液和精液样本。精液分析按照世界卫生组织（WHO）指南进行。对血液样本进行核型分析、荧光原位杂交（FISH）以及采用放射免疫分析法测定血浆卵泡刺激素（FSH）。为确定Y染色体微缺失，对分离的基因组DNA进行16个序列标签位点（STS）及三个基因（DFFRY、XKRY和RBM1Y）的聚合酶链反应（PCR）。对部分病例进行睾丸细针穿刺细胞学检查（FNAC）。
14例KFS无精子症患者中有4例存在跨越无精子症因子（AZF）a和AZFb位点的Y染色体微缺失。核型和FISH分析显示，在4例显示Y染色体微缺失的病例中，3例具有47,XXY/46,XY染色体模式，1例具有46,XY/47,XXY/48,XXXY/48,XXYY染色体模式。1例Y染色体微缺失样本的睾丸FNAC显示为唯支持细胞型形态。然而，13例有生育能力的男性中均未观察到Y染色体微缺失。所有KFS患者的血浆FSH水平均升高。
KFS患者可能存在Y染色体微缺失，对其进行筛查应作为诊断检查的一部分，尤其是对于考虑辅助生殖技术的患者。
