Case Report on Xq Deletion - As a Cause for Primary Infertility in Male
DOI:
https://doi.org/10.7439/ijbar.v7i10.3676Abstract
Male infertility is often described in terms of role played by Y chromosome and Yq microdeletions. But studies have shown that X chromosome, being enriched for testis specific genes plays a significant role in formation of mature spermatozoa. The couple under study had undergone treatments for infertility including 7 Intrauterine inseminations (IUI) and 6 Invitro Fertilization (IVF) cycles but without any success. On cytogenetic analysis chromosomal aberrations were observed in both male and female partners. But male had more aberrations with major clonal aberrations in the form of Xq deletions. The genes CPXCR1, ARPT1, GLUD-2, SAGE-1 and USP26 are located on Xq21, Xq25 and Xq26 regions. These genes show testis specific expression pattern and play an important role in spermatogenesis. Therefore Xq deletions could be a cause for primary infertility in male.Downloads
References
Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Rep Bio and Endo. 2015; 13:37-45.
Stouffs K, Lissens W. X chromosomal mutations and spermatogenic failure. Biochim Biophys Acta 2013; 1822:1864
Fohn LE, Behringer RR. A novel X chromosome-linked human homeobox gene expressed in the placenta and testis. Genomics. 2001; 74:105-108.
Skaletsky H, Kuroda T, Minx PJ, Cordum HS, Hillier L, Brown LG et al. The male-specific region of the human Y chromosome is a mosaic of descrete sequence classes. Nat Gen. 2003; 19:825-837.
Mueller JL, Mahadevaiah SK, Park PJ, Warburton PE, Page DC, Turner JM. The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression. Nat Gen. 2008; 40:794-799.
Mueller JL, Skaletsky H, Brown LG, Zaghlul S, Rock S, Graves T et al. Independent specialization of the human and mouse X chromosomes for the male germline. Nat Gen. 2013; 45:1083-1087.
VanAssche EV, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P et al. Cytogenetics of infertile men. Hum Rep. 1996; 11(4):1-24.
Tuttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Ropke A. Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One. 2011; 6(4):1-11.
Krausz C. Male infertility: Pathogenesis and clinical diagnosis. Best Prac and Res Clin Endro and Meta. 2011; 25:271-285.
Lopez AM, Aston KI, Thompson E, Carvalho F, Goncalves J, Huang N et al. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Gen. 2013; 9:1-9.
Tahmasbpour E, Balasubramanian D, Agarwal A. A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART). J Ass Rep Gen. 2014; 31:1115
Hamada AJ, Esteves SC, Agarwal A. A comprehensive review of genetics and genetic testing in azoospermia. Clinics. 2013; 68:39-60.
Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endo. 2010; 45:257
Radojcic AB, Buretic AT, Starcevic N, Kapovic M, Vlastelic I, Randic L.Chromosome studies in patients with defective reproductive success. Am J Rep Imm. 2000; 44:279-283.
Kjessler B. Karyotype, Meiosis and Spermatogenesis in a Sample of Men Attending an Infertility Clinic. Mono in Hum Gen. 1966; 2-6.
McIlree ME, Price W, Court Brown WM, Selby-Tulloch W, Newsam JE, Maclean N. Chromosome studies on testicular cells from 50 subfertile men. Lancet. 1966; 2:69
Chandley AC. The chromosomal basis of human infertility. Br. Med.Bull. 1979; 35:181
Iman S, Hamideh K, Tayebeh T, Zahra B, Toyoki M, Hana A. et al. Constitutional telomeric dysfunction in an azoospermic male with extensive telomeric association. Am J Med Gen. 2010; 152(A):2413-2416.
Martin H. Meiotic errors in human oogenesis and spermatogenesis.Rep Bio.Med.2008;523-
Downloads
Published
Issue
Section
License
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (SeeThe Effect of Open Access).
How to Cite
