Table 2.
Semen routine parameters and sperm morphology of men harboring bi-allelic DNHD1 variants
| Human subjects | F1-II-1 | F2-II-1 | F3-II-1 | F4-II-1 | F5-II-1 | F6-II-1 | F7-II-1 | F8-II-1 | Reference valuesa | |
|---|---|---|---|---|---|---|---|---|---|---|
| Semen parameters | ||||||||||
| Sperm volume (mL) | 4.0 | 3.5 | 3.2 | 3.6 | 2.7 | 3.1 | 1.8 | 2.6 | >1.5 | |
| Sperm concentration (106/mL) | 12.1 | 1.8 | 17.6 | 2.7 | 81.4 | 99 | 25.7 | 32.2 | >15.0 | |
| Motility (%) | 0.8 | 20.0 | 0 | 7.3 | 25.0 | 30.0 | 4.5 | 5.8 | >40.0 | |
| Progressive motility (%) | 0.8 | 0 | 0 | 3.2 | 16.5 | 6.3 | 0 | 0.5 | >32.0 | |
| Sperm flagellar morphologyb | ||||||||||
| Absent flagella (%) | 7.1 | 13.8 | 12.5 | 16.0 | 8.6 | 8.0 | N/A | N/A | <5.0 | |
| Short flagella (%) | 27.5 | 15.8 | 38.0 | 22.5 | 6.7 | 8.5 | N/A | N/A | <1.0 | |
| Coiled flagella (%) | 25.0 | 39.2 | 16.9 | 26.6 | 44.5 | 26.9 | N/A | N/A | <17.0 | |
| Angulation (%) | 10.2 | 8.7 | 6.1 | 7.6 | 3.5 | 5.5 | N/A | N/A | <13.0 | |
| Irregular caliber (%) | 27.8 | 20.3 | 24.6 | 24.8 | 16.7 | 12.4 | N/A | N/A | <2.0 | |
| Sperm mid-piece morphology | ||||||||||
| Normal mid-piece (%) | 11.4 | 19.8 | 5.7 | 21.3 | 39.1 | 55.1 | N/A | N/A | >88.6 | |
| Abnormal mid-piece (%) | 88.6 | 80.2 | 94.3 | 78.8 | 60.9 | 44.9 | N/A | N/A | <11.4 | |