Genetic causes of male infertility: Current concepts

被引：3

作者：

Nudell D.M. ^{[1
]}

Turek P.J. ^{[1
]}

机构：

[1] Department of Urology, University of California, San Francisco, 533 Parnassus Ave., Room U575, San Francisco, 94143, CA

来源：

Current Urology Reports | 2000年 / 1卷 / 4期

关键词：

Autosomal Dominant Polycystic Kidney Disease; Azoospermia; Intracytoplasmic Sperm Injection; Male Infertility; Preimplantation Genetic Diagnosis;

D O I：

10.1007/s11934-000-0007-3

中图分类号：

学科分类号：

摘要：

Infertile men with severe spermatogenic defects and low or no sperm counts have a significantly higher rate of genetic abnormalities than fertile men [1–3]. The fact that intracytoplasmic sperm injection can potentially bypass natural selection barriers to genetic disease transmission has brought a sobering but important impetus to recent research in the area of genetic infertility. Recent studies have focused on examining the prevalence of certain genetic defects in infertile men, analyzing the molecular basis of infertility in genetic disorders, and detecting new causes of genetic infertility. Several novel research findings deserve mention for their potential impact on genetic infertility. It has been demonstrated that elongated and round spermatids can be successfully injected into human oocytes and viable births obtained. Likewise, significant advances have been made in the arena of interspecies germ cell transplantation. Of some concern is the finding of a relationship between faulty DNA repair and infertility in men with severe testis failure. This review summarizes the recent genetic advances in these areas of male genetic infertility. © 2000, Current Science Inc.

引用

页码：273 / 281

页数：8

共 56 条

[1]

Bhasin S., Ma K., Sinha I., Et al., The genetic basis of male infertility, Endocrinol Metab Clin North Am, 27, pp. 783-805, (1998)

[2]

Kupker W., Schwinger E., Hiort O., Et al., Genetics of male subfertility: consequences for the clinical work-up, Hum Reprod, 14, pp. 24-37, (1999)

[3]

Mak V., Jarvi K.A., The genetics of male infertility, J Urol, 156, pp. 1245-1256, (1996)

[4]

Patrizio P., Broomfield D., The genetic basis of male infertility, Male Fertility and Infertility, pp. 162-179, (1999)

[5]

Franco B., Guioli S., Pragliola A., Et al., A gene deleted in Kallmann’s syndrome shares homology with neural cell adhesion and axonal path-finding molecules, Nature, 353, pp. 529-536, (1991)

[6]

Layman L.C., Cohen D.P., Jin M., Et al., Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism [letter], Nat Genet, 18, pp. 14-15, (1998)

[7]

Buchter D., Behre H.M., Kliesch S., Nieschlag E., Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: a review of 42 cases, Eur J Endocrinol, 139, pp. 298-303, (1998)

[8]

Shkolny D.L., Beitel L.K., Ginsberg J., Et al., Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively, J Clin Endocrinol Metab, 84, pp. 805-810, (1999)

[9]

Yoshida K.I., Yano M., Chiba K., Et al., CAG repeat length in the androgen receptor gene is enhanced in patients with idiopathic azoospermia, Urology, 54, pp. 1078-1081, (1999)

[10]

von Zumbusch A., Fiedler K., Mayerhofer A., Et al., Birth of healthy children after intracytoplasmic sperm injection in two couples with male Kartagener’s syndrome, Fertil Steril, 70, pp. 643-646, (1998)

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