Table 1. Classification of case and control cohorts according to WHO criteria and incidence of Y chromosome microdeletions.
Group | Phenotype | N° | WHO criteria | Intact Y chromosome | AZF deletion (n) | gr/gr partial deletion | b2/b3 partial deletion | b1/b3 partial deletion | Partial deletion and associated Y chromosome haplogroup |
Severe | non-obstructive azoospermia | 88 | no sperm in the ejaculate | 80 | AZFa (1), AZFc (3), AZFa+b (2), AZFa+b+c (2) | 2 (2.5%) | - | 1 (1.25%) | gr/gr, E3b2 n = 1; E3 (xE3b2), n = 1; b1/b3, E3b2 n = 1 |
Oligozoospermia | 12 | <5×106 sperm/ml | 11 | AZFc (1) | - | - | - | ||
Oligoasthenozoospermia | 11 | <5×106 sperm/ml and >40% of sperm have low motility | 11 | - | 1 (9.09%) | - | - | gr/gr, F, n = 1 | |
Oligoteratozoospermia | 7 | <5×106 sperm/ml and >40% of sperm with abnormal morphology | 7 | - | - | - | - | - | |
Oligoasthenoteratozoospermia | 61 | 5×106 sperm/ml, >40% of sperm have low motility and >40% of sperm with abnormal morphology | 57 | AZFc (4) | 6 (10.53%) | 4 (7.02%) | - | gr/gr E3b2, n = 5 b2/b3 E3b2, n = 2 J, n = 1 | |
Mild | Oligozoospermia | 20 | <20×106 sperm/ml | 20 | - | - | - | - | - |
Oligoasthenozoospermia | 12 | <20×106 sperm/ml and >40% of sperm have low motility | 12 | - | 1 (8.33%) | - | - | - | |
Oligoteratozoospermia | 3 | <20×106 sperm/ml and >40% of sperm with abnormal morphology | 3 | - | - | - | - | - | |
Oligoasthenoteratozoospermia | 22 | <20×106 sperm/ml, >40% of sperm have low motility and >40% of sperm with abnormal morphology | 22 | - | 2 (9.09%) | - | 1 (4.54%) | gr/gr E3b2, n = 1 F, n = 1 b1/b3 E3b2, n = 1 | |
Asthenozoospermia | 61 | >40% of sperm have low motility | 61 | - | 5 (8.19%) | - | - | gr/gr, E3b2 n = 4 | |
Teratozoospermia | 19 | >40% of sperm with abnormal morphology | 19 | - | 1 (5.26%) | - | - | - | |
Asthenoteratozoospermia | 23 | >40% of sperm have low motility and >40% of sperm with abnormal morphology | 23 | - | 1 (4.34%) | - | - | - | |
Normospermic | 256 | 256 | - | 16 (6.25%) | - | - | gr/gr E3b2, n = 9 E (xE3b2), n = 2 J, n = 1 | ||
Total | 595 | 582 | 13 | 35 | 4 | 2 |
Y chromosome haplogroup is indicated for 31 samples with partial AZFc deletions.