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Review
. 2010 Dec:1214:E1-E17.
doi: 10.1111/j.1749-6632.2010.05917.x.

Mendelian genetics of male infertility

Kathleen Hwang  1 , Alexander N Yatsenko, Carolina J Jorgez, Sarmistha Mukherjee, Roopa Lata Nalam, Martin M Matzuk, Dolores J Lamb
Affiliations
Review

Mendelian genetics of male infertility

Kathleen Hwang et al. Ann N Y Acad Sci. 2010 Dec.

Abstract

Infertility is defined as the inability of a couple to conceive despite trying for a year, and it affects approximately 15% of the reproductive-age population. It is considered a genetically lethal factor, as the family lineage stops at that individual with no progeny produced. A genetic defect associated with an infertile individual cannot be transmitted to the offspring, ensuring the maintenance of reproductive fitness of the species. However, with the advent of assisted reproductive techniques (ART), we are now able to overcome sterility and bypass nature's protective mechanisms that developed through evolution to prevent fertilization by defective or deficient sperm.

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Conflict of interest statement

Conflicts of Interest

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Evaluation of patient with azoospermia. CFTR, cystic fibrosis transmembrane conductance regulator gene; FSH, follicle stimulating hormone; IVF, in vitro fertilization; MESA, microsurgical epididymal sperm aspiration; LH, luteinizing hormone; TESSE, testicular sperm extraction; PRL, prolactin.
See this image and copyright information in PMC

References

    1. Lipshultz LI, Lamb DJ. Risk of transmission of genetic diseases by assisted reproduction. Nat Clin Pract Urol. 2007;4:460–461. - PMC - PubMed
    1. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod. 1991;6:245–250. - PubMed
    1. Bogatcheva NV, Truong A, Feng S, et al. GREAT/LGR8 is the only receptor for insulin-like 3 peptide. Mol Endocrinol. 2003;17:2639–2646. - PubMed
    1. Foresta C, Ferlin A, Gianaroli L, Dallapiccola B. Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet. 2002;10:303–312. - PubMed
    1. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet. 2001;29:279–286. - PubMed

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