Background: Males with 45,X/46,XY karyotype have two different types of cells. This condition is associated with a wide range of clinical phenotypes. In infertile males, the mosaic 45,X/46,XY karyotype is a frequent sex chromosome defect and they might be able to conceive with the help of assisted reproductive technology; nevertheless, there is a potential risk of transmission of azoospermia factor (AZF) microdeletions in addition to 45,X to all the male progeny. In this case report, the purpose was to present a rare sex chromosomal mosaicism of an infertile man.
Case Presentation: Comprehensive molecular and cytogenetic analysis of an infertile male was performed in this case study. A 27-year-old male was presented with history of azoospermia and was unable to conceive after being involved in five years of marriage. Cytogenetic investigation revealed a rare mosaic karyotype pattern of 45,X/46,X,del(Y)(q12→qter). Y chromosome microdeletion (YMD) analysis revealed notable deletions of 06 loci. Comparative genomic hybridization (CGH) microarray was performed to investigate probable functional genetic associations.
Conclusion: Deletion of Y-linked genes leads to different testicular pathological conditions contributing to male infertility. Individuals with normal male phenotype harbor YMD, although size and location of the deletion do not always correspond well with quality of sperm. Therefore, in addition to semen analysis, identification of genetic variables is important which will play a crucial role in proper diagnosis and management of infertile couples. The present case study demonstrates the significance of comprehensive molecular testing and cytogenetic screening for individuals with idiopathic infertility.