• PMID: 24501866
• Gene Name: EDDM3A
• Condition: Idiopathic azoospermia, oligoasthenoteratozoospermia
• Association: The results displayed the significance of CGH and microchip analysis as a promising area of research with serious clinical application for resolving the problems of the male infertility and still have an important annex for selecting the most appropriate
• Population size: 16
• Population details: 16 blood samples of men with an idiopathic oligoastenozoospermia or azoospermia
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SPAG11B, SPAG11A, EDDM3A and EDDM3B
• Other associated phenotypes: Idiopathic azoospermia, oligoasthenoteratozoospermia

[Genomic study in patients with idiopathic azoospermia and oligoasthenoteratozoospermia]

Damyanova V, Dimitrova-Dikanarova D, Hadjidekova S, Savov A, Nesheva D, Rukova B, Vatev I, Toncheva D.

Genome disbalances are related to the different types of infertility and they play a role in the treatment of human infertility. Comparative genome hybridization (CGH) combined with microchips is a modern high resolution technique for all human chromosomes investigations. We analysed the genome disbalances in 16 blood samples of men with an idiopathic oligoastenozoospermia or azoospermia using CGH and microchips for the whole human genome. Our data showed a few affected loci, including: 3q26.32 deletion accompanied by 14q11.1 deletion, 9q12 deletion, 5q35.1 amplification, 7p22.3 amplification and 17q12-17q21.2 amplification. In this study we have match the deletions: in two patients in the same area in the 8 chromosome, as well as in 5 patients in 14 chromosome. The deleted region contains 25 genes. Two of them (SPAG11B and SPAG11A) are associated with stages of spermatogenesis and in particular formation and maturation of the spermatozoa. These genes play a role during spermatogenesis and fertilization. Loss. chr.14q11.2 (EDDM3A and EDDM3B) affected the proteins that are synthesized and secreted by epididymal epithelial cells that has been found up-regulated in epididimis of nonobstructive azoospermic men. Our results displayed the significance of CGH and microchip analysis as a promising area of research with serious clinical application for resolving the problems of the male infertility and still have an important annex for selecting the most appropriate methods for the treatment in these patients as a perspective scientific field of investigations with a clinical appliance. FAU - Damyanova, V AU - Damyanova V FAU - Dimitrova-Dikanarova, D AU - Dimitrova-Dikanarova D FAU - Hadjidekova, S AU - Hadjidekova S FAU - Savov, A AU - Savov A FAU - Nesheva, D AU - Nesheva D FAU - Rukova, B AU - Rukova B FAU - Vatev, I AU - Vatev I