Selected genetic factors associated with male infertility

Authors: Huynh T.; Mollard R.

Source: Human Reproduction Update, Volume 8, Number 2, March 2002 , pp. 183-198(16)

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Abstract:

Studies into the mechanisms underlying spermatogenesis, the process by which spermatogonia undergo meiosis to become spermatozoa, have identified a number of genetic determinants of male infertility. Indeed, a more comprehensive knowledge of the genetic regulation of spermatogenesis has alleviated the dependence on the use of idiopathic infertility as a classification for sterile men for whom a cause for their infertility is unknown, as genetic factors become more accountable for this phenotype. This review focuses on selected areas implicated in male infertility including: (i) autosomal and sex chromosomal abnormalities; (ii) genetic disorders associated with impaired gonadotrophin secretion or action; (iii) microdeletions within regions of the Y-chromosome containing candidate gene families for spermatogenesis; (iv) the genetic nexus between cystic fibrosis and congenital bilateral absence of the vas deferens; and (v) insights into human infertility as gleaned from animal studies into mechanisms involving the Bcl-2 family of apoptosis regulators and the interaction between the c-kit encoded tyrosine kinase receptor and its ligand, stem cell factor. As significant advances continue to further knowledge of the genetic basis of male infertility, such as those leading to an understanding of the aforementioned areas, greater progress can be made to rectify or at least ameliorate social stigmas associated with sterility.

Keywords: chromosomal abnormalities; cystic fibrosis and congenital absence of the vas; male infertility; spermatogenic function; Y microdeletions

Document Type: Research article

Affiliations: 1: Monash Institute of Reproduction and Development, Centre for Early Human Development, 27–31 Wright Street, Clayton, Victoria 3168, Australia

Publication date: 2002-03-01

More about this publication?

Human Reproduction Update, first published in 1995, aims to provide invited, comprehensive, authoritative, up-to-date critical and balanced reviews covering all areas of human reproduction including reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology and counselling, ethics and social issues. These papers are peer-reviewed to the highest editorial and scientific standards. Human Reproduction Update is published on behalf of the European Society of Human Reproduction and Embryology (ESHRE).

Selected genetic factors associated with male infertility

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