Chromosomal Abnormalities and Y Chromosome Microdeletions in Bulgarian Male With Azoospermia or Severe Oligospermia

Kovacheva, K; Kotsev, R; Konova, E; Rilcheva, Violeta; Kamburova, Z.; Simeonova, M

doi:10.5272/jimab.2018244.2217

Cited by 3 publications

(1 citation statement)

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“…According to the World Health Organization, infertility is defined as a disease of the reproductive system described by the inability to conceive a child after 1 year or more of regular unprotected sexual intercourse [26]. This is a global issue, affecting around 15% of the couples trying to conceive [1,10]. Male infertility solemnly is responsible for 20-30% of the reproductive problems of the couples and over the last few years is gaining more clinical attention [1].…”

Section: Introductionmentioning

confidence: 99%

The association of gr/gr deletion in the Y chromosome and impaired spermatogenesis in Bulgarian males: a pilot study

Levkova

Chervenkov

Angelova

2020

Middle East Fertil Soc J

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Background: The microdeletions of the Y chromosome are associated with a decreased number of sperm cells in the ejaculate and male infertility. One such deletion is the gr/gr, which leads to reduction of the alleles in the DAZ gene. In order to evaluate its role, 30 patients with sperm count below 5 × 10 6 /mL and 30 normal fertile men were genotyped for microdeletions in Azoospermia Factor (AZF) region, including gr/gr deletion.Results: Twenty-one men (70.00%) from the males with impaired fertility had a normal genotype, seven men (23.33%) were carriers of a gr/gr deletion, and two men (6.67%) demonstrated a deletion of the AZFc region. From the control group, there were 22 men (73.33%) with no deletion, seven (23.33%) carried a gr/gr deletion, and one man (3.33%) carried a possible deletion in the b1-b4 region of the Y chromosome. The gr/gr deletion of the Y chromosome showed a statistically nonsignificant difference (p = 0.94, alpha < 0.05) with the control group (chisquare, degrees of freedom 0.006). Conclusion:The results from the research show no association between this deletion and male infertility in the studied population. Despite the small sample size, the high frequency of the gr/gr deletion, found in the control group, suggests that this variant may not be associated with impaired spermatogenesis.

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