Table 3.
Clinical and hormonal features of 71 patients with CPP caused by MKRN3 mutations
| Girls (n = 45) Mean ± SD | Boys (n = 26) Mean ± SD | |
|---|---|---|
| First pubertal signs (years) | 6.22 ± 1.19 | 7.13 ± 1.46 |
| Pubarche (years) | 6.96 ± 1.14 | 7.3 ± 1.58 |
| At first evaluation | ||
| Chronological age (years) | 7.13 ± 1.05 | 8.00 ± 1.53 |
| BA (years) | 9.17 ± 1.98 | 9.51 ± 2.56 |
| BAA (years) | 2.04 ± 1.57 | 1.81 ± 1.30 |
| Height SDS | 1.25 ± 1.06 | 0.43 ± 1.10 |
| BMI SDS | 0.92 ± 0.99 | 1.50 ± 1.26 |
| Basal LH (IU/L) | 1.86 ± 1.78 | 1.59 ± 1.22 |
| Basal FSH (IU/L) | 4.94 ± 2.33 | 2.64 ± 1.87 |
| Estradiol (ng/dL) | 30.0 ± 20.9 | |
| Testosterone (ng/dL) | . | 186 ± 185 |
| LH peak (IU/L) | 20.16 ± 14.93 | 10.87 ± 4.98 |
| FSH peak (IU/L) | 16.94 ± 4.86 | |
| Treatment duration (years) | 2.89 ± 0.91 (n = 20) | 2.72 ± 0.57 (n = 5) |
| Age at menarche in treated subjects (years) | 11.3 ± 1.2 | |
| Age at menarche in untreated subjects (years) | 8.2 ± 1.0 | |
| Final height SDS in treated patients | –0.46 ± 0.61a (n = 16) | –0.9 ± 1.51 (n = 3) |
| TH SDS for treated patients | –0.69 ± 0.86a | –0.1 ± 0.88 (n = 3) |
Data are shown as mean ± standard deviation.
Abbreviations: BA, bone age; BAA, bone age advance; SDS, standard deviation score; LH, luteinizing hormone; FSH, follicle stimulating hormone; TH, target height; NA, not applicable.
a Final height in treated girls did not differ from predicted target height (P = .37).