Y chromosome gr/gr deletions are a risk factor for low semen quality.

Journal Article (Journal Article;Systematic Review)

BACKGROUND: Subfertility affects one in eight couples. In up to 50% of cases, the male partner has low semen quality. Four Y chromosome deletions, i.e. Azoospermia factor a (AZFa), P5/proximal-P1 (AZFb), P5/distal-P1 and AZFc deletions, are established causes of low semen quality. Whether a recently identified partial AZFc deletion, the gr/gr deletion, also causes low semen quality is at present unclear. METHODS: We used a dual approach to review the effect of the gr/gr deletion on semen quality. First, we conducted a systematic review and meta-analysis of previous association studies, to compare the prevalence of gr/gr deletions between azoo-/oligozoospermic men and normozoospermic men. Secondly, we studied a cohort of 1041 male partners of subfertile couples unselected for semen quality. We employed a cross-sectional design by screening all men for the gr/gr deletion and comparing the semen quality of men with and without the gr/gr deletion. RESULTS: Seven studies were included in the meta-analysis. The gr/gr deletion was significantly more prevalent among azoo-/oligozoospermic men than among normozoospermic men (OR 2.4, 95% CI 1.75-3.30). In our cohort, 25 men carried a gr/gr deletion. Men with this genotype had a lower sperm concentration (median 34 x 10(6)/ml versus 53 x 10(6)/ml, P = 0.017), total sperm count (median 108 x 10(6) versus 152 x 10(6), P = 0.006) and total motile sperm count (median 20 x 10(6) versus 50 x 10(6), P = 0.010) than men without the gr/gr deletion. CONCLUSION: Y chromosome gr/gr deletions significantly reduce sperm counts and are thus associated with low semen quality.

Full Text

Duke Authors

Cited Authors

  • Visser, L; Westerveld, GH; Korver, CM; van Daalen, SKM; Hovingh, SE; Rozen, S; van der Veen, F; Repping, S

Published Date

  • October 2009

Published In

Volume / Issue

  • 24 / 10

Start / End Page

  • 2667 - 2673

PubMed ID

  • 19602516

Electronic International Standard Serial Number (EISSN)

  • 1460-2350

Digital Object Identifier (DOI)

  • 10.1093/humrep/dep243


  • eng

Conference Location

  • England