Table 1.
Average semen parameters in the different genotype groups for the 78 MMAF subjects
| Semen parameters | MMAF CFAP43 patients, n = 10 | MMAF CFAP44 patients, n = 6 | MMAF DNAH1 patients, n = 6 | MMAF all mutations, n = 22 | MMAF with unknown causes, n = 56 | Overall MMAF, n = 78 |
|---|---|---|---|---|---|---|
| Mean age (years) | 37.7 ± 9.6 (n′ = 9) | 41.3 ± 4.3 (n′ = 6) | 41.5 ± 4.4 (n′ = 6) | 39.8 ± 7 (n′ = 21) | 42.3 ± 7.9 (n′ = 56) | 41.6 ± 7.7 (n′ = 77) |
| Sperm volume (ml) | 3.5 ± 1.4 (n′ = 8) | 3.2 ± 0.87 (n′ = 6) | 3.5 ± 1.2 (n′ = 6) | 3.4 ± 1.2 (n′ = 20) | 3.5 ± 1.5 (n′ = 55) | 3.5 ± 1.4 (n′ = 75) |
| Sperm concentration (106/ml) | 27.2 ± 23.4 (n′ = 8) | 7.9 ± 8.4 (n′ = 6) | 22.9 ± 15.2 (n′ = 6) | 20.1 ± 18.8 (n′ = 20) | 27.6 ± 35.7 (n′ = 55) | 25.6 ± 32.1 (n′ = 75) |
| Motility (a + b + c) 1 h | 0 ± 0 (n′ = 9) | 0 ± 0 (n′ = 6) | 2.6 ± 4.2 (n′ = 6) | 0.7 ± 2.4* (n′ = 21) | 5 ± 6.1 (n′ = 55) | 3.9 ± 5.6 (n′ = 76) |
| Vitality | 55.5 ± 24 (n′ = 8) | 43.3 ± 22.6 (n′ = 6) | 51.2 ± 23.1 (n′ = 5) | 50.5 ± 22.7 (n′ = 19) | 53.4 ± 20 (n′ = 53) | 52.7 ± 20 (n′ = 72) |
| Normal spermatozoa | 1.25 ± 3.5 (n′ = 8) | 0 ± 0 (n′ = 6) | 0 ± 0 (n′ = 6) | 0.5 ± 2.3 (n′ = 20) | 2.1 ± 4.1 (n′ = 54) | 1.6 ± 2.7 (n′ = 61) |
| Absent flagella | 21.8 ± 17.6 (n′ = 5) | 36.8 ± 4.1 (n′ = 5) | 25.6 ± 15.9 (n′ = 5) | 28.1 ± 14.4* (n′ = 15) | 18.5 ± 15.5 (n′ = 51) | 20.7 ± 15.7 (n′ = 66) |
| Short flagella | 65.3 ± 31.7 (n′ = 8) | 52.2 ± 27 (n′ = 6) | 49.8 ± 24.3 (n′ = 5) | 57.1 ± 27.9* (n′ = 19) | 38.9 ± 25.7 (n′ = 53) | 43.7 ± 27.3 (n′ = 72) |
| Coiled flagella | 8.2 ± 6 (n′ = 6) | 14.4 ± 7 (n′ = 5) | 9 ± 6.3 (n′ = 5) | 10.4 ± 6.6 (n′ = 16) | 13.5 ± 10 (n′ = 53) | 12.8 ± 9.4 (n′ = 69) |
| Bent flagella | 10.3 ± 6 (n′ = 3) | 9 (n′ = 1) | 6 ± 8.5 (n′ = 2) | 8.7 ± 5.8 (n′ = 6) | 12 ± 9 (n′ = 20) | 4.2 ± 8.4 (n′ = 26) |
| Flagella of irregular caliber | 20.2 ± 19.3 (n′ = 5) | 28.4 ± 16.9 (n′ = 5) | 35 ± 22.7 (n′ = 5) | 27.9 ± 19.4 (n′ = 15) | 32.8 ± 26.7 (n′ = 52) | 31.7 ± 25.1 (n′ = 67) |
| Multiple anomalies index | 2.3 ± 0.2 (n′ = 4) | 3.4 ± 0.4 (n′ = 5) | 2.3 ± 1.3 (n′ = 5) | 2.7 ± 1 (n′ = 14) | 2.7 ± 0.6 (n′ = 47) | 2.7 ± 0.7 (n′ = 61) |
Values are expressed in percent, unless specified otherwise
Values are mean ± SD; n = total number of patients in each group; n′ = number of patients used to calculate the average based on available data
We compared statistical differences between MMAF due to CFAP43, CFAP44, and DNAH1 mutations versus MMAF due to uncharacterized genetic cause
CFAP cilia and flagella associated protein; MMAF, multiple morphological abnormalities of the flagella
*A significant difference P < 0.05