Table 1.
Patient number | CCP/early puberty (EP) classificati on |
Initial clinical manifestati on (Age, y) |
Breast Tanner stage | Uterus length | BMI SDS | BA y |
LH after GnRH IU/L FSH after GnRH IU/L |
E2 Pg/ml |
Mother’s height (cm) |
Father’s Height (cm) |
Mother’s menarche (age, y) |
Mutation GPR54 |
Mutation MKRN3 |
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | EP | 8.5 | 2 | 3.8 | −1.02 | 9.5 | 3,1 | 12.3 | 26 | 154.5 | 172.2 | 10 | rs 350,132 | |
2 | EP | 8.5 | 2 | 3.5 | 1.52 | 9 | 9,3 | 15.1 | 27.4 | 153 | 11 | rs2239669 | ||
3 | EP | 8.5 | 3 | 4.3 | 0.26 | 10.5 | 10.74 | 8.4 | 22.1 | 157.1 | 171 | 11 | rs 350,132 | rs2239669 |
4 | EP | 8.5 | 2 | −0.24 | 7.1 | 11.5 | 33.8 | rs 350,132 | ||||||
5 | EP | 8.5 | 2 | 4.6 | −1.2 | 8.5 | 42.4 | 12.4 | 18 | 156 | 160.6 | 12 | rs 350,132 | |
6 | EP | 8.5 | 2 | −0.79 | 12 | 4.7 | 6.6 | 10 | rs2239669 | |||||
7 | CCP | 7 | 3 | 4.5 | −1.1 | 11 | 35.8 | 17.6 | < 10 | 158 | 164 | 11 | rs 350,132 | |
8 | CCP | 8 | 3 | 4.2 | −0.9 | 10.5 | 9.3 | 8.8 | 50.5 | 158.1 | 179.9 | 10 | rs 350,132 | |
9 | CCP | 8 | 2 | 4 | −1.96 | 8.5 | 5.4 | 7.1 | 20.7 | 168.5 | 173.1 | 13 | rs 350,132 | rs140467331 |
10 | CCP | 6.5 | 2 | 4.2 | 0.15 | 8 | 4.4 | 15.4 | 27.7 | 162.5 | 175.5 | 11 | rs 350,132 | |
11 | CCP | 8 | 2 | 3.6 | 0.08 | 10 | 10.3 | 11 | 28.5 | 172.2 | 178.9 | 13 | rs 350,132 | rs2239669 |
12 | CCP | 7.5 | 2 | 5.2 | 0.12 | 10 | 15.7 | 9.9 | 19.2 | 163.9 | 169.1 | 14 | rs 350,132 | |
13 | CCP | 7 | 3 | 3.5 | −0.12 | 10.5 | 22.3 | 11.6 | 15.7 | 168 | 187 | 11 | rs2239669 | |
14 | CCP | 8 | 2 | 3.1 | −0.47 | 11 | 5.7 | 11.2 | < 10 | 146.8 | 175.4 | 11 | rs 350,132 | |
15 | CCP | 8 | 2 | 5.4 | 0.62 | 36.3 | 13.6 | 38.6 |
rs 350,132 /rs764046537 |
|||||
16 | CCP | 8 | 3 | 4.8 | −0.16 | 10 | 8.1 | 14.8 | 13.5 | /rs764046537 | ||||
17 | CCP | 8 | 3 | 3.6 | −0.22 | 10.5 | 28.8 | 13.4 | 18 | rs 350,132 | rs2239669 | |||
18 | CCP | 7.5 | 11 | rs 350,132 | rs760981395 | |||||||||
19 | CCP | 5.5 | 2 | 4.5 | 6 | 5.9 | 25.2 | 15.2 | rs 350,132 |