Table 1 General, auxological and endocrinological characteristics of our patients
Main characteristics | Case 1 | Case 2 | Case 3 | Case 4 | |
|---|---|---|---|---|---|
Sex (Female: Male) | F | F | M | F | |
Parental age, yrs^ (Mother: Father) | 25:26 | 33:36 | 25:28 | 34:36 | |
Target height, cm (SDS) | 162.6 (0.1 SDS) | 159 (-0.5 SDS). | 166.8 (- 1.2 SDS) | 159.5 (-0.5 SDS) | |
Gestation (weeks) | uncomplicated (41) | uncomplicated (40) | uncomplicated (40) | uncomplicated (39.4) | |
Birth-weight, gr (SDS) | 2.650 (-2.4) | 2.850 (-1.6) | 3.140 (0.3 SDS) | 2.370 (-1.6 SDS) | |
Birth-length, cm (SDS) | 45 (-3.2) | 46 (-2.4) | 49 (-0.4 SDS) | 45 (-2.4 SDS) | |
OFC, cm (SDS) | 34 (-0.5) | - | 33 (-1.1 SDS). | 32 (-1.6 SDS) | |
Neuromotor development | Delayed | Moderately delayed | Delayed | Delayed | |
9p trisomy diagnosis | At birth | 7Â months | 3Â years 9Â months | 2Â years 2Â months | |
Chromosomal study | 47,XX, t (9; 14) (q12; p11.1), +der (9)t(9;14) (q12; p11.1) [24] | 46,XX,-9, dup (9) (p12; p22) [24] | 46,XY, der (22)t(9;22)(p21; p12). [24] | 46,XX, dup(9)(p24.3-p13.3) | |
Postnatal growth delay | Yes | Yes | Yes | Yes | |
GH stimulation tests (type)* | (C) - (A) | (A) - (C) | (GA) - (C) | (C) - (GA) | |
| Â | Basal GH level (ng/mL) | 0.9 - 1.3 | 1.7 - 0.2 | 0.7 - 1.1 | 0.4 - 0.5 |
|  | Peak GH level (ng/mL) | 7.0 - 7.4 | 5.0 – 13.0 | 6.3 – 4.3 | 9.6 – 8.8 |
GH axis dysfunction type | GHD | GHNSD | GHD | GHD | |
GH treatment (Y:N) | Yes | Yes | No | No | |
Puberty onset, B2 or G2 (yrs) | 11.2 | 14.5 | 14.8 | - | |
| Â | B3 or G3 | 11.9 | 15.6 | 16.2 | - |
| Â | B4 or G4 | 12.9 | 16.9 | 17.5 | - |
Final height, cm (SDS) | 156.9 (-0.9 SDS). | 154.4 (-1.3 SDS) | 157.5 (-2.6 SDS) | - | |