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. 2020 Mar 30;46:39. doi: 10.1186/s13052-020-0808-6

Table 1.

Clinical and hormonal features of patients

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