Frequency of Y chromosome microdeletions in men with oligozoospermic infertility. A literature review

Andrius Čitavičius1, Arūnas Petkevičius1, Rytis Tumasonis1

1Lithuanian University of Health Sciences, Medicine Faculty, Kaunas, Lithuania


Infertility – inability for a couple to achieve a clinical pregnancy within 12 months, while having regular unprotected sexual intercourse. Around 15% of couples worldwide seek medical help due to failure to conceive a child during the first 12 months of having regular unprotected sexual intercourse. Male infertility is a multifactorial disorder, which affects around 7% of total male population. As many as 48,5% of infertile men were diagnosed with oligozoospermia. Y chromosome microdeletion is the most common genetic disorder that causes male infertility due to oligozoospermia. Y chromosome microdeletions cause infertility in approximately 1 in 2000 or in 3000 men. After analyzing 4 case-control studies samples, Y chromosome microdeletions were detected in 239 of 3522 (6,79%) men, 239 of 2872 (8,32%) infertile men in case group and in 85 of 1665 (5,11%) infertile men with oligozoospermia. Y chromosome microdeletions were not detected in any of the fertile men in control group. Microdeletions of the AZFc region of the Y chromosome are detected in about 80% of men with confirmed infertility due to oligozoospermia. Microdeletions of AZFa and AZFb/c regions are significantly less common (each approximately 5%), and in AZFb and AZFa/c regions they are ever rarer – less than 2.5% of all cases.

Keywords: infertility, male infertility, oligozoospermia, Y chromosome microdeletions.