Samli H, Samli M M, Azgoz A, Solak M
Afyon Kocatepe University, Faculty of Medicine, Department of Medical Biology, Afyon, Turkey.
Arch Androl. 2006 Nov-Dec;52(6):427-31. doi: 10.1080/01485010600840780.
In male infertility, the frequency of genetic factors is high. Klinefelter's Syndrome is the most frequent sex chromosomal abnormality detected in male infertility. In this study we report a patient diagnosed with Klinefelter's Syndrome with a deletion of the Yq interval. The patient was 24-years old with primary infertility. Semen analyses carried out in triplicate indicated azoospermia. The plasma leutenizing hormone (LH) and follicle stimulating hormone (FSH) levels were abnormally high and the testosterone level was lower than the usual range. Each of his testes had a volume of 3 cc. Peripheral blood karyotype analysis showed Klinefelter's Syndrome (47, XXY) pattern. Polymerase chain reaction amplification of DNA was performed using the following primers; AZFa (sY81, sY82, sY84), AZFb (sY127, sY142, sY164, RBM1), AZFc (CDY, BPY, sY254, sY255, sY277), AZFd (sY152, sY145, sY153). Analysis revealed a single deletion of AZFa region (sY84). Deletion of the AZFa region may be an additional factor for absolute azoospermia in men with Klinefelter's Syndrome. For individuals with Klinefelter's Syndrome who plan to undergo assisted reproduction techniques, Y chromosome microdeletion screening can diagnostically be convenient.
在男性不育症中，遗传因素的发生率很高。克兰费尔特综合征是在男性不育症中检测到的最常见的性染色体异常。在本研究中，我们报告了一名被诊断为克兰费尔特综合征且Yq区间缺失的患者。该患者24岁，患有原发性不育症。精液分析进行了三次，结果显示无精子症。血浆促黄体生成素（LH）和促卵泡生成素（FSH）水平异常升高，睾酮水平低于正常范围。他的每个睾丸体积为3立方厘米。外周血核型分析显示为克兰费尔特综合征（47, XXY）模式。使用以下引物进行DNA的聚合酶链反应扩增：AZFa（sY81、sY82、sY84）、AZFb（sY127、sY142、sY164、RBM1）、AZFc（CDY、BPY、sY254、sY255、sY277）、AZFd（sY152、sY145、sY153）。分析显示AZFa区域（sY84）存在单一缺失。AZFa区域的缺失可能是克兰费尔特综合征男性绝对无精子症的一个额外因素。对于计划接受辅助生殖技术的克兰费尔特综合征患者，Y染色体微缺失筛查在诊断上可能会很方便。
