Table 3.
Testicular ultrasound exams and semen samples from adult patients with CAH and the three most common CYP21A2 genotypes (mean±s.d. or median and range).
| Patients | Null | I2splice | I172N | P value genotypes | |
|---|---|---|---|---|---|
| Ultrasound | n=21 | n=4 | n=10 | n=4 | |
| Total volume (cm3) | 22.7±7.5 | 18.7±9.0 | 24.6±6.0 | 24.4±11.6 | NS |
| TART present | 18/21 | 4/4 | 8/10 | 4/4 | NS |
| TART (n) | 2.0 (0–8) | 2.0 (1–5) | 2 (0–8) | 1.5 (1–2) | NS |
| Total TART (cm3) | 0.5 (0–8.7) | 2.9 (1.9–4.6) | 0.2 (0–8.7) | 0.5 (0.2–4.3) | 0.083 |
| Total functional (cm3) | 20.4 (7.1–36.7) | 15.6±8.1 | 24.4±5.7 | 23.0±9.8 | NS |
| Semen sample | n=14 | n=1 | n=6 | n=6 | |
| Volume (ml) | 2.3±0.6 | 1.5 | 2.3±0.5 | 2.2±0.6 | NSa |
| Sperm count (×106) | 151±112 | 105 | 220±146 | 88±19 | 0.053a |
| Sperm conc. (×106/ml) | 70±54 | 70 | 99±71 | 44±18 | 0.094a |
| Motile sperm (%) | 53±21 | 30 | 64±11 | 42±23 | 0.060a |
| Normal morphology (%) | 3.2±2.8 | 1.0 | 4.5±3.4 | 2.2±1.9 | NSa |
| Pathological semen | 6/14 | 1/1 | 3/7 | 2/5 | NS |
NS, non-significant; TART, testicular adrenal rest tumor.
a
Only one male null/null patient provided a semen sample, thus comparisons were only performed between I2splice and I172N.