Clinical Pathology Department, Mansoura University, Mansoura, Egypt.
Andrologia. 2012 Feb;44(1):26-33. doi: 10.1111/j.1439-0272.2010.01100.x. Epub 2011 Apr 6.
The CAG repeat and its association with infertility has been debatable. Therefore, this study was planned to assess the distribution of CAG repeat expansion in Egyptian patients and to investigate its association with male infertility. Forty-five infertile men were eligible for the study in addition to 20 aged-matched fertile males as control. Semen analysis, scrotal sonography, assay of serum testosterone, follicle-stimulating hormone (FSH) and luteinising hormone (LH), and determination of the CAG repeat number within exon 1 of the androgen receptor (AR) gene were carried out. Statistically significant difference was found between infertile and control groups regarding sperm count, sperm motility, serum FSH level and CAG repeats (P < 0.05); statistically insignificant difference for the CAG repeats (P = 1.0) was found between oligozoospermic and asthenospermic groups; negative correlation was found between CAG repeat length and sperm count, and a positive correlation was found between CAG repeat length and serum FSH (P < 0.05). Our results validate the concept that long stretches of CAG repeat may be associated with lower AR function with derangement of sperm production, and this may contribute to male infertility in Egyptian men.
CAG 重复序列及其与不育的关系一直存在争议。因此，本研究旨在评估 CAG 重复扩展在埃及患者中的分布，并研究其与男性不育的关系。除了 20 名年龄匹配的正常生育男性作为对照组外，还选择了 45 名不育男性进行研究。进行了精液分析、阴囊超声检查、血清睾酮、卵泡刺激素（FSH）和黄体生成素（LH）测定，以及雄激素受体（AR）基因第 1 外显子内 CAG 重复数的测定。不育组和对照组在精子计数、精子活力、血清 FSH 水平和 CAG 重复数方面存在统计学显著差异（P<0.05）；在少精子症和弱精子症组之间，CAG 重复数没有统计学显著差异（P=1.0）；CAG 重复长度与精子计数呈负相关，与血清 FSH 呈正相关（P<0.05）。我们的结果证实了这样一种观点，即长的 CAG 重复序列可能与较低的 AR 功能有关，从而导致精子生成失调，这可能导致埃及男性的不育。
