TABLE 1.
Clinical laboratory evaluation of the two CBAVD patients in the study.
| II‐1 | II‐2 | Normal range | |
|---|---|---|---|
| Age (years) | 31 | 27 | – |
| Gender | Male | Male | – |
| Sperm volume (mL) | 0.2 | 1.2 | >1.5 |
| Total sperm count (106/ejaculate) | 0 | 0 | >39 |
| Seminal PH | 6.5 | 6.5 | 7.2–8 |
| Karyotype | 46, XY | 46, XY | – |
| AZF deletion | Undetectable | Undetectable | – |
| Kidney | Bilaterally normal | Bilaterally normal | – |
| Testis | 37 × 25 × 19 mm (right) | 36 × 25 × 18 mm (right) | – |
| 38 × 24 × 20 mm (left) | 36 × 25 × 16 mm (left) | – | |
| Epididymis caput | 12 × 10 mm (right) | 16 × 8 mm (right) | – |
| 11 × 9 mm (left) | 10 × 7 mm (left) | – | |
| Epididymis corpus | Absence | Absence | –‐ |
| Epididymis cauda | Absence | Absence | – |
| Vas deference | Absence | Absence | – |
| Seminal vesicle | Absence | Absence | – |
| FSH (mIU/mL) | 4.73 | 10.29 | 1.5–12.4 |
| LH (mIU/mL) | 2.73 | 5.50 | 1.7–8.6 |
| T (ng/mL) | 4.58 | 5.28 | 2.49–8.36 |
| E2 (pg/mL) | 27.72 | 35.94 | 27.1–52.2 |
| Sweat chloride (mmol/L) | 35 and 31 | 33 and 37 | CF > 60, N < 30 Equivocal 31–59 |