Table 2.
Summary of Hormonal Levels According to Mutated Gene
| Hormone Levels | Genotype (No. of Patients) | All Patients | |||
|---|---|---|---|---|---|
| Hormone | Reported Levels | POLR3A | POLR3B | POLR1C | TOTAL |
| GH (stimulation test) | Low | 2 | 0 | 1 | 3 |
| Normal | 2 | 0 | 0 | 2 | |
| % Abnormal | 50.0% | 0.0% | 100.0% | 60.0% | |
| Prolactin | Low | 3 | 2 | 0 | 5 |
| High | 1 | 1 | 2 | 4 | |
| Normal | 8 | 3 | 2 | 13 | |
| % Abnormal | 33.3% | 50.0% | 50.0% | 40.9% | |
| TSH | Low | 2 | 0 | 0 | 2 |
| High | 1 | 2 | 1 | 4 | |
| Normal | 22 | 24 | 7 | 53 | |
| % Abnormal | 12.0% | 7.7% | 12.5% | 10.2% | |
| Free T4 | Low | 2 | 1 | 1 | 2 |
| High | 0 | 2 | 1 | 3 | |
| Normal | 21 | 15 | 6 | 42 | |
| % Abnormal | 8.7% | 16.7% | 25.0% | 10.6% |