Table 2.
Genotype and Clinical Data of the Patients
| Case | Genotype | Basal Cortisol (µg/dL) | ACTH (pg/mL) | Late-Night Cortisol (µg/dL) | Cortisol After 1 mg DEXa (µg/dL) |
|---|---|---|---|---|---|
| 1 | p.R619* (c.1855C>T) | 18.8 | 2.84 | 11 | 16.7 |
| 2 | p.R619* (c.1855C>T) | 13.7 | 7.53 | 7.3 | 6.4 |
| 3 | Wild type | 8.5 | 10.1 | 3.3 | 3.2 |
| 4 | Wild type | 7.09 | 13.3 | 6.9 | 9.25 |
| 5 | p.R898W (c.2692C>T) | 13.8 | <1.0 | 13.6 | 15.4 |
| 6 | p.R619* (c.1855C>T) | 7.8 | 8.2 | 4.9 | 5.6 |
| 7 | p.R654* (c.1855C>T) | 10.7 | 8.4 | 7.9 | 5.2 |
| 8 | Wild type | 7.4 | 7.79 | 6.1 | 5.8 |
| 9 | p.R619* (c.1855C>T) | 12.8 | <1.0 | 10.2 | 13.1 |
| 10 | p.R362Q (c.1085G>A) | 17.4 | <2.0 | 16.1 | 27.6 |
| 11 | p.R619* (c.1855C>T) | 16.6 | <2.0 | 12.4 | ND |
| 12 | p.G143Sfs*8 (c.427_454del) | 11.8 | 5.3 | 6.5 | 8.4 |
| 13 | Wild type | 8.6 | 10.1 | 5.3 | 2.1 |
| 14 | p.R654* (c.1960C>T) | 9.2 | 6.2 | 3.5 | 8.8 |
Abbreviation: ND, not done.
a
1 mg DEX is taken orally at 11 pm, and a single blood sample is drawn at 8 am the next morning.