Case Report on Xq Deletion - As a Cause for Primary Infertility in Male

Abstract

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.