非阻塞性无精子症和少精子症患者的基因异常。

H Samli, M M Samli, M Solak, N Imirzalioglu
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引用次数: 44

摘要

遗传因素在男性不育病因学中占有重要地位。数量和结构染色体异常似乎是常见的原因不明的少精子症和无精子症病例。在这项研究中,819例无精子症(383例)和少精子症(436例)患者在1995-2005年间就诊于不孕症科。每隔一个月对每位患者进行两次精子图和基本激素(fsh -睾酮)检查,并对所有病例进行细胞遗传学评估。383例无精子症患者中有47例(12%)和436例少精子症患者中有20例(4%)存在染色体异常。无精子症患者染色体异常9例(19%)为常染色体,38例(80%)为淋染色体。在少精症病例中,8例(40%)染色体异常为常染色体,12例(60%)为淋染色体。通过细胞遗传学分析和遗传咨询,确定导致不育的遗传因素,评估辅助生殖技术提供的后代的遗传风险,有助于无精子症和少精子症的不育男性。
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Genetic anomalies detected in patients with non-obstructive azoospermia and oligozoospermia.

Genetic factors have a major importance in male infertility etiology. Numerical and structural chromosomal abnormalities seem to be frequent inoligospermia and azoospermia cases with unknown etiology. In this study, 819 patients with azoospermia (383) and oligospermia (436) who attended the infertility department between 1995-2005 were evaluated. Spermogram and basic hormone proties (FSH-testosterone) were studied two times in a one month interval from each patient, and all the cases were evaluated cytogenetically. The 47 (12%) of 383 azoospermia patients and the 20 (4%) of 436 oligospermia patients were found to have chromosomal abnormalities. The 9 (19%) of the chromosomal abnormalities found in azoospermia patients were autosomal and the 38 (80%) were gonosomal. In oligospermia cases, the 8 (40%) of the chromosomal abnormalities were autosomal and 12 (60%) were gonosomal. Cytogenetic analysis and genetic counseling would be helpful in infertile males with azoospermia and oligospermia by determining the genetic factors causing infertility and by assessing the genetic risks of the offsprigs provided by assisted reproductive techniques.

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