MKRN3 and KISS1R mutations in precocious and early puberty

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

ISSN: 1824-7288