y chromosome microdeletions in infertile men with non-obstructive azoospermia and severe oligozoospermia

Background: the purpose of the study was to investigate the frequencies and types of y chromosome microdeletions in infertile men and to analyze the relationship between the levels of reproductive hormones and y microdeletions. methods: a total of 1,226 infertile men were screened for y chromosome microdeletions using multiplex pcr assay. karyotype analysis was performed on peripheral blood lymphocytes with standard g-banding. serum reproductive hormone levels were measured. results: out of 1,226 infertile patients, 134 (10.93%) had y microdeletions. one hundred seven of 765 (13.99%) non-obstructive azoospermic patients and 27 of 133 (20.30%) severe oligozoospermic patients had y microdeletions. among the 134 infertile men with y microdeletions, the most frequent microdeletions were detected in the azfc region, followed by azfbc, azfb, azfa, azfabc(yq), yp(sry)+yq, and partial azfc regions. karyotype analysis was available for 130 of the 134 patients with y microdeletions. of them, 36 (27.69%) patients had sex chromosomal abnormalities. levels of fsh and lh in patients with azfc microdeletion were significantly lower, while those in patients with yp(sry)+yq were significantly higher than in patients without y microdeletions. level of testosterone in patients with azfabc(yq) or yp(sry)+yq was significantly lower than that in patients without y microdeletions. however, there was no significant difference in the levels of reproductive hormones between all patients with and without y microdeletions. conclusion: these results highlight the need for y chromosome microdeletion screening for correct diagnosis of male infertility. obtaining reliable genetic information for assisted reproductive techniques can prevent unnecessary treatment and vertical transmission of genetic defects to offspring.