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

[31]

Kostiner D.R., Turek P.J., Reijo R.A., Male infertility: analysis of the markers and genes on the human Y chromosome, Hum Reprod, 13, pp. 3032-3038, (1998)

[32]

Kleiman S.E., Yogev L., Gamzu R., Et al., Genetic evaluation of infertile men, Hum Reprod, 14, pp. 33-38, (1999)

[33]

Kent-First M.G., Kol S., Muallem A., Et al., The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers, Mol Hum Reprod, 2, pp. 943-950, (1996)

[34]

Kremer J.A., Tuerlings J.H., Meuleman E.J., Et al., Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic, Hum Reprod, 12, pp. 687-691, (1997)

[35]

Mulhall J.P., Reijo R., Alagappan R., Et al., Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection, Hum Reprod, 12, pp. 503-508, (1997)

[36]

Chang P.L., Sauer M.V., Brown S., Y chromosome microdeletion in a father and his four infertile sons, Hum Reprod, 14, pp. 2689-2694, (1999)

[37]

Nudell D., Dorfman D., Reijo R., Turek P., The expression of DAZ and DAZL proteins in human testes with normal and abnormal spermatogenesis, J Urol, 159, (1998)

[38]

Niederberger C., Agulnik A.I., Cho Y., Et al., In situ hybridization shows that Dazla expression in mouse testis is restricted to premeiotic stages IV-VI of spermatogenesis, Mamm Genome, 8, pp. 277-278, (1997)

[39]

Sun C., Skaletsky H., Birren B., Et al., An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y, Nat Genet, 23, pp. 429-432, (1999)

[40]

Turek P.J., Givens C., Schriock E.D., Et al., Testis sperm extraction and intracytoplasmic sperm injection guided by prior fine needle aspiration mapping in nonobstructive azoospermia, Fertil Steril, 71, pp. 552-558, (1999)

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