Cytogenetic abnormalities in Chinese men with nonobstructive azoospermia

来源 :第十次全国中西医结合男科学术大会暨第六届广西中医、中西医结合男科学术大会 | 被引量 : 0次 | 上传用户:wusic
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  Objective: Up to 20% of infertile male may have underlying genetic abnormalities.Guidelines advocate that Karyotype and Y microdeletion evaluation should be performed for severely oligiospermia and azoospermia.The aim of this study was to determine the detection rate of Chromosomal and Y deletion abnormalities in a population of Chinese men with nonobstructive azoospermia.Methods: Between Jan 2013 and May 2015, 1656 patients underwent genetic evaluation including chromosomal analysis and Y microdeletions for nonobstructive azoospermia.The frequency and type of genetic abnormalities were determined.Results: 351 (21.2%) patients of the 1656 tested were found to have genetic abnormalities with abnormal karyotypes in 209 (12.6%) patients and Y microdeletions in 142 (8.6%) patients.The commonest abnormality was 47 XXY (n=193, 11.7% of all screened), followed by 46 XX in 7 patients, Chromosomal translocations in 6, 45 XO in 2 patients, and 48XXYY in 1 patients.The majority (n=83, 58.5%) of microdeletions were combination of deletions.A combination of b, c and d microdeletions occurred in 15 patients, c and d microdeletions in 35 patients, b and c microdeletions in 27 patients, a, b, and c deletion in 2 patients and a, b, c and d deletion in 5 patients.7, 14, 35 and 1 patient had AZFa, AZFb, AZFc and AZFd microdeletions, respectively.Conclusion: The frequency of genetic abnormalities in men with nonobstructive azoospermia is similar with that reported in the literature.Genetic evaluation should be recommended for patients with nonobstructive azoospermia.
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