Table 1.
Clinical investigations of patients carrying the NPHP4 mutation
| Parameters | Reference values | Patient IV:3 | Patient IV:4 | Control IV:5 |
|---|---|---|---|---|
| Age (years) | - | 46 | 31 | 20 |
| Height (cm)/weight (kg) | - | 165.1/70 | 170.2/66 | 170.1/65 |
| BMI | 18.5–24.9 | 25.68 | 22.78 | 22.44 |
|
Age (y) of marriage Chest X-ray |
- |
22 Normal |
14 Normal |
06 Normal |
| Ultrasonography | ||||
| Left testis size (cm) | 3.6–5.5 × 2.1–3.5 | 3.51 × 2.91 | 3.84 × 2.88 | - |
| Right testis size (cm) | 3.6–5.5 × 2.1–3.5 | 3.29 × 2.35 | 3.69 × 2.23 | - |
| Renal function test | ||||
| Urea (mg/dL) | 42 | 31 | - | |
| Creatinine (mg/dL) | Upto 1.2 | 1 | 1.1 | - |
| Uric acid (mg/dL) | 5 | 5.2 | - | |
| Urine protein | Trace | ( +) | - | |
| Hormone analysis | ||||
| FSH (mIU/mL) | 1.0–11 | 7.3 | 10.11 | - |
| LH (mIU/mL) | 1.0–8.0 | 4.21 | 9.92 | - |
| Prolactin (ng/mL) | 3.00–14.70 | 8.17 | 15.48 | - |
| Testosterone (ng/mL) | 3–10 | 5.18 | 8.48 | - |
| Semen analysis | ||||
| Ejaculate volume (mL) | > 1.5 | 2.5 ± 0.83 | 3.16 ± 0.81 | 3.5 |
| pH | 7.2–7.8 | 7.65 ± 0.17 | 7.96 ± 0.08 | 7.5 |
| Sperm concentration (106/mL) | > 15 | 29.16 ± 7.3 | 15.16 ± 7.62 | 28 |
| Motility | ||||
| Total motility PR + NP (%) | > 40 | 20 ± 7.07 | 9.50 ± 12.30 | 33 |
| Progressive motility PR (%) | > 32 | 6.5 ± 2.73 | 2.5 ± 4.1 | 18 |
| Vitality (%) | > 58 | 35 ± 14.14 | 40 | 42 |
| Morphology | ||||
| Normal spermatozoa (%) | > 4 | 7.42 ± 3.13 | 5.95 | 64.9 |
| Normal head (%) | > 23 | 61.99 ± 3.00 | 48.68 | 67.06 |
| Normal flagella (%) | > 23 | 14.36 ± 1.70 | 18.81 | 39.71 |
| Aberrant flagella (%) | - | 85.63 ± 1.70 | 81.18 | 60.2 |
| Absent flagella (%) | - | 2.08 ± 0.47 | 6.93 | 1.82 |
| Short flagella (%) | - | 30.28 ± 5.14 | 10.23 | 11.34 |
| Coiled flagella (%) | - | 28.24 ± 4.71 | 37.62 | 28.36 |
| Bent flagella (%) | - | 19.75 ± 4.36 | 22.12 | 19.38 |
| Irregular flagella (%) | - | 5.26 ± 3.31 | 4.29 | 0.7 |
Reference values for hormones analysis and Renal Function Tests were established by the local laboratory based on the normal individuals of patient’s population. Reference limits (5th centiles and their 95% confidence intervals) according to the World Health Organization standard 2010, and the distribution range of morphologically normal spermatozoa observed in fertile individuals
PR progressive motility, NP non-progressive motility