Table 1.
Clinical features, height, BMI, pubertal status and baseline biochemical evaluation at diagnosis and latest assessment
| Patient no. | Sex | FU interval (yr) | At diagnosis | At follow-up (latest assessment) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age (yr) | Ht SDS | BMI SDS | Pubertal stage (TV: R/L) | 00.00 h Cortisol (nmol/l) | 09.00 h ACTH (ng/l) | Cortisol during LDDST (nmol/l) (% suppress) | Cortisol during HDDST (nmol/l) (% suppress) | CRH test (cortisol rise %) | Agea (FU interval to latest height measurementa) | Ht SDS | BMI SDS | Pubertal development | |||
| 1 | F | 2.9 | 14.7 | −2.1 | 2.0 | A2 B1 P4 | 983 | 24 | 588 (0) | – | 81 | 19.8 (2.9) | −2.84 | 2.12 | B1 P5 A2 M1 |
| 2 | M | 16.6 | 6.4 | −1.6 | 5.1 | G2 P2 (2/2) | 285 | 26 | 184 (37) | <50 | 83 | 23.7 (16.6) | −1.34 | 0.01 | Adult |
| 3 | M | 15.7 | 13.7 | −1.8 | 2.3 | G3 P3 (3/3) | 930 | 38 | 170 (65) | <50 | 87 | 29.6 | – | – | Adult |
| 4 | M | 17.0 | 17.8 | −0.7 | 1.7 | G4 (15/15) | 287 | 66 | 41 (100) | <20 | 24 | 34.7 (7.6) | – | – | Adult |
| 5 | M | 7.6 | 8.8 | −1.1 | 3.2 | G1 P1 (3/3) | 552 | 61 | 265 (46) | – | 35 | 1.0 (7.6) | 0.23 | 1.46 | Adult |
| 6 | M | 5.3 | 6.4 | −1.1 | 4.9 | A1 G2 P3 (2/2) | 490 | 48 | 601 (59) | – | 2 | 12.3 (5.3) | 0.32 | 2.71 | P5 A2 (12/12) |
| 7 | M | 5.9 | 13.2 | −1.1 | 0.0 | A2 G2 P3 (6/5) | 1082 | 15 | 513 (51) | – | 34 | 19.2 (4.4) | −1.8 | 0.52 | Adult |
| 8 | M | 9.9 | 8.2 | −1.5 | 3.0 | G2 P1 (2/2) | 380 | 65 | 101 (84) | – | 46 | 18.2 (9.9) | −0.51 | 0.99 | TV 15/15 |
| 9 | F | 20.4 | 14.3 | −0.3 | 2.3 | B4 M0 | 216 | 13 | 369 (58) | 79 (86) | 117 | 34.7 | – | – | Adult |
| 10 | F | 27.2 | 16.4 | −2.3 | 0.7 | A2 B4 P4 | 460 | 53 | 250 (73) | <50 | 200 | 44.0 | – | – | Adult |
| 11 | F | 15.0 | 14.8 | −2.9 | 0.8 | B3 M0 | 478 | 25 | 842 (0) | <50 | 45 | 30.1 (11.2) | 0.00 | 0.00 | Adult |
| 12 | M | 11.1 | 11.7 | −1.8 | 3.1 | G1 P2 (2/2) | 222 | 15 | 55 (86) | <50 | 219 | 18.9 (7.3) | −1.46 | −0.17 | Adult |
| 13 | M | 8.9 | 15.6 | −1.1 | 3.0 | A1 G4 P4 (12/12) | 146 | 21 | 106 (77) | <50 | 80 | 24.7 | – | – | Adult |
| 14 | M | 13.6 | 16.8 | −3.3 | 1.6 | A3 G4 P4 (8/8) | 586 | 52 | 370 (3) | <50 | 90 | 30.42 (3.9) | −1.58 | −0.16 | TV 12/12 |
| 15 | F | 11.4 | 13.8 | −0.5 | 2.2 | A3 B5 P5 M1 | 552 | 50 | 153 (78) | <50 | 6 | 25.4 | – | – | Adult |
| 16 | M | 8.1 | 6.6 | −3.2 | 3.8 | A1 G2 P2 (2/2) | 857 | 33 | 695 (16) | 207 (61) | 268 | 15.1 (8.1) | −2.53 | −1.90 | TV 6/6 |
| 17 | F | 5.8 | 5.7 | −0.2 | 6.9 | A1 B1 P1 | 199 | 29 | 326 (38) | 521 (0) | 62 | 12.0 (5.8) | −0.03 | 1.12 | B2 P1 A1 M1 |
| 18 | F | 5.7 | 14.1 | −2.1 | 2.5 | A3 B1 P4 | 611 | 96 | 22 (100) | – | 59 | 19.9 (5.7) | −1.22 | 1.53 | Adult |
| 19 | F | 5.1 | 9.7 | −0.4 | 2.1 | A1 B1 P2 | 308 | 51 | 36 (94) | – | 175 | 15.1 (5.1) | −0.53 | −0.92 | B4 P4 M1 |
| 20 | M | 5.2 | 12.9 | 0.1 | 2.2 | A2 G2 P2 (2/2) | 521 | 42 | 272 (53) | – | 60 | 17.2 (2.6) | 0.46 | 0.05 | Adult |
| 21 | M | 4.6 | 11.7 | −1.6 | 2.7 | A2 G1 P2 (2/2) | 463 | 68 | 185 (43) | – | 128 | 16.3 (4.6) | −1.99 | 1.41 | Adult |
FU interval, time interval from definitive therapy resulting in remission to latest assessment; Agea, age at final clinical assessment; FU interval to latest height measurementa, FU interval to latest height measurement, if different from the interval to latest clinical assessment; Ht height, Puberty staged by Tanner (16, 17). B breast development G genital stage, P pubic hair stage, A axillary hair stage, M menarche, TV testicular volume (ml), R right, L left, Serum cortisol 00.00 h (sleeping), LDDST low-dose dexamethasone suppression test (% cortisol suppression from baseline), HDDST high-dose dexamethasone suppression test (% cortisol suppression from baseline), CRH corticotrophin-releasing hormone. Height SDS at latest assessment, final (adult) heights are in bold