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[1001例男性不育患者的染色体检查:染色体异常男性的发病率及临床特征]

[Chromosomal survey of 1001 subfertile males: incidence and clinical features of males with chromosomal anomalies].

作者信息

Matsuda T, Horii Y, Ogura K, Nonomura M, Okada K, Yoshida O

机构信息

Department of Urology, Faculty of Medicine, Kyoto University.

出版信息

Hinyokika Kiyo. 1992 Jul;38(7):803-9.

PMID:1524005
Abstract

A chromosomal survey using the G-banding technique was performed on 1,001 subfertile males examined at Kyoto University Hospital between January, 1985 and April, 1991. Thirty-six of them had major chromosome anomalies (3.6%). The incidence of major anomalies for the 154 azoospermia patients, 326 oligozoospermia patients with a sperm density of less than 20 x 10(6)/ml, and 521 patients with normal sperm density was 10.4, 4.6, and 1.0%, respectively. The major anomalies found in azoospermic patients were associated with the sex chromosome, whereas autosomal anomalies were found in patients with oligozoospermia. The incidence of anomalies for patients with azoo- or oligozoospermia was significantly higher than that for patients with normal sperm density (p = 0.000003). All of the 12 patients with Klinefelter syndrome were azoospermic. However, the serum testosterone levels were within normal range in 10 of these patients. Testicular biopsies showed spermatogenic arrest in 5 of the 12 azoo- or oligozoospermic patients with structural chromosomal anomalies. Except for one patient, treatments such as varicocelectomy or medication were not effective in the patients with structural chromosomal anomalies. Chromosome studies are important in the evaluation of subfertile male patients with sperm densities less than 20 x 10(6)/ml. Disorders of the spermatogenic process may be directly related structural chromosomal anomalies in some of the patients.

摘要

1985年1月至1991年4月期间,在京都大学医院对1001名不育男性进行了使用G显带技术的染色体调查。其中36人有主要染色体异常(3.6%)。154名无精子症患者、326名精子密度低于20×10⁶/ml的少精子症患者和521名精子密度正常的患者中,主要异常的发生率分别为10.4%、4.6%和1.0%。无精子症患者中发现的主要异常与性染色体有关,而少精子症患者中发现的是常染色体异常。无精子症或少精子症患者的异常发生率显著高于精子密度正常的患者(p = 0.000003)。所有12例克兰费尔特综合征患者均为无精子症。然而,其中10例患者的血清睾酮水平在正常范围内。在12例无精子症或少精子症且有结构染色体异常的患者中,5例睾丸活检显示生精停滞。除1例患者外,精索静脉曲张切除术或药物治疗等对有结构染色体异常的患者均无效。染色体研究对于评估精子密度低于20×10⁶/ml的不育男性患者很重要。在一些患者中,生精过程的紊乱可能与结构染色体异常直接相关。

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