Samli H, Samli M M, Solak M, Imirzalioglu N
Afyon Kocatepe University, School of Medicine, Department of Medical Genetics, Afyon, Turkey.
Arch Androl. 2006 Jul-Aug;52(4):263-7. doi: 10.1080/01485010600664032.
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.
遗传因素在男性不育病因中具有重要意义。在病因不明的少精子症和无精子症病例中，染色体数目和结构异常似乎较为常见。本研究对1995年至2005年间到不孕不育科就诊的819例无精子症（383例）和少精子症（436例）患者进行了评估。对每位患者在一个月的间隔内进行了两次精液分析和基础激素检测（卵泡刺激素 - 睾酮），并对所有病例进行了细胞遗传学评估。在383例无精子症患者中，有47例（12%）被发现存在染色体异常；在436例少精子症患者中，有20例（4%）存在染色体异常。在无精子症患者中发现的染色体异常，9例（19%）为常染色体异常，38例（80%）为性染色体异常。在少精子症病例中，染色体异常的8例（40%）为常染色体异常，12例（60%）为性染色体异常。细胞遗传学分析和遗传咨询有助于患有无精子症和少精子症的不育男性，通过确定导致不育的遗传因素以及评估辅助生殖技术所提供后代的遗传风险。
