ABSTRACT
Wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. In this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes. To investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from Northeast China. 2034 infertile men including 691 patients with abnormal sperm parameters were investigated retrospectively. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome micro deletions were detected by polymerase chain reaction assays. Chromosome analysis was performed using G-banding. The incidence of abnormal chromosomal karyotype in the patients with abnormal sperm parameters was 12.01% [83/691]. The most frequent cause was Klinefelter's syndrome 37.35% [31/83]. As the same as chromosomal abnormalities group, the volumes of testes [p=0.000 and 0.000, respectively] and the levels of testosterone [T] [p=0.000], and testosterone/ luteinizing hormone [T/LH] [p=0.000] of patients with Y chromosome micro deletions were significantly lower than those of fertile group. In addition, the levels of follicle-stimulating hormone [FSH] [p=0.000], and luteinizing hormone [LH] [p=0.000] were significantly higher in patients with Y chromosome micro deletions than those in the fertile group. Translocation abnormalities displayed slight effect on sperm motility. Y chromosome micro deletions and sex chromosome disorders particularly Klinefelter's [47, XXY], have severe adverse influence on normal hormone levels, testicular volume and sperm count, whereas translocation abnormalities may inversely correlate with sperm motility
ABSTRACT
In some cases infertile men showed small deletions of specific genes in the Y chromosome. It had been confirmed, these deleted genes are greatly associated with spermatogenic failure. However, the frequency and the patterns of such microdeletions among infertile men are not clearly clarified. We sought to determine the frequency and the patterns of Y chromosome microdeletions in azoospermic and oligozoospermic infertile men in Northeast China, and try to optimize the selection of sequence tagged sites [STSs] of AZF microdeletions in multiplex polymerase chain reaction [PCR]. 720 azoospermic and 330 oligozoospermic infertile men, from Northeast China were included in this retrospective study during May 2008 to November 2012. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome microdeletions were detected by polymerase chain reaction assays. G-banding method was used for chromosome Karyotype analysis. Chi-square tests were used to compare patterns of Y chromosome microdeletions in azoospermic and oligozoospermic patients. Of 1050 infertile men, 12.95% cases had shown Y chromosome microdeletions, and 19.43% of cases showed abnormal chromosomal karyotype. Deletions in AZFc region was the most frequent 75.00%, followed by deletions in AZFb region 13.33%, AZFbc region 09.62%, and AZFa region 2.22%. All oligozoospermic patients showed presence of sY84, sY86, sY127, and sY134. Deletion of sY127 [p=0.0101] and sY157 [p=0.0043] showed significant difference between azoospermic group and oligozoospermic group. Deletions of sY127 may relate to azoospermia while sY84, sY86, sY127 can be ignored in AZF screening for oligozoospermic patients