Abstract
PURPOSES: To investigate the frequencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. Moreover, to compare the prevalence of these abnormalities with other countries and regions in the world. METHODS: 305 infertile men were enrolled. A complete semen analysis and reproductive hormones were measured according to standard methods. Multiplex polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) were used to detect AZF microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. RESULTS: Of the 305 infertile men, 28 (9.2%) had AZF microdeletions and 26 (8.5%) had chromosomal abnormalities. The most frequent microdeletions were in the AZFc+d, followed by AZFc, AZFb+c+d and AZFa. A total of 19 patients (82.6%) had Klinefelter's syndrome (47, XXY) in the azoospermic group. CONCLUSIONS: The freqencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China were comparable with infertile men from other countries and regions. However, there was a slightly higher prevalence rate of AZF microdeletions in oligozoospermic patients than reported in previous studies.