Precocious puberty

E4_PREPUB

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E30.1
  • Hospital discharge: ICD-9 2591
  • Cause of death: ICD-10 E30.1
  • Cause of death: ICD-9 2591

2 out of 7 registries used, show all original rules.

209

4. Check minimum number of events

None

209

5. Include endpoints

None

209

6. Filter based on genotype QC (FinnGen only)

178

Control definitions (FinnGen only)

Control exclude
E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E30
Name in latin
Pubertas praecox

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3614 2856 755
Only index persons 3025 2327 698
Unadjusted period prevalence (%)
Whole population 0.07 0.08 0.02
Only index persons 0.07 0.09 0.03
Median age at first event (years)
Whole population 9.48 8.97 11.38
Only index persons 9.57 9.01 11.43

-FinnGen-

Key figures

All Female Male
Number of individuals 178 149 29
Unadjusted period prevalence (%) 0.05 0.05 0.01
Median age at first event (years) 9.58 8.98 12.64

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
199
Matched controls
1990
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.1
ICD-10 Finland
Precocious puberty
13072.1
240.3
181
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
16.8
51.2
47
36
L02AE02
ATC
leuprorelin; implant, parenteral
62.2
38.5
44
9
E22.80
ICD-10 Finland
Central precocious puberty
412.2
35.1
34
*
2591A
ICD-9 Finland
Other endocrine disorders, Precocious sexual development and puberty, not elsewhere classified
+∞
22.3
21
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
20.1
19
*
E27.0
ICD-10 Finland
Other adrenocortical overactivity
184.9
16.8
17
*
E34.45
ICD-10 Finland
Abnormal growth increase
93.9
8.5
9
*
L02AE04
ATC
triptorelin; parenteral
+∞
8.4
8
*
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
8.4
8
*
Z3231
NOMESCO Finland
Registered nurse
2.3
7.1
73
398
E28.2
ICD-10 Finland
Polycystic ovarian syndrome
14.9
6.5
10
7
XLA10, ,
NOMESCO Finland
72.1
6.5
7
*
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
6.3
6
*
H01AC01
ATC
somatropin; parenteral
+∞
6.3
6
*
U04
ICPC
Incontinence urine
10.5
6.1
11
11

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
47
109
5.34
20.01
3.4
1.8
7.26
8.60
iu/l
0.27
36
76
47
123
4.69
17.19
3.6
1.7
4.82
6.80
u/l
1.79
34
85
14
11
13.58
8.51
2.2
3.5
5.24
2.95
nmol/l
0.70
14
11
23
90
2.76
4.40
8.8
5.2
0.10
0.10
%
—
10
21
89
613
1.82
4.07
17.4
8.3
1.21
1.22
mmol/l
0.49
81
557
23
94
2.64
4.06
8.8
5.1
0.40
1.04
%
—
10
25
32
154
2.28
4.00
2.6
2.4
—
—
—
0
0
50
288
1.98
3.95
5.9
3.1
7.39
7.39
ph
0.16
42
194
22
93
2.54
3.63
9.5
5.2
0.00
0.10
%
—
10
21
58
361
1.86
3.61
3.6
4.5
1.11
1.05
inr
0.53
50
299
83
579
1.74
3.52
6.5
4.6
8.39
11.77
umol/l
2.72
76
529
24
108
2.39
3.48
21.3
13.4
105.63
106.55
mmol/l
0.33
24
108
21
89
2.52
3.45
6.3
4.4
0.50
1.04
%
—
8
23
40
225
1.97
3.35
22.8
9.8
24.87
24.86
mmol/l
0.01
40
225
15
55
2.87
3.23
27.9
8.6
0.61
0.59
%
0.13
15
55
8
15
5.51
3.22
2.0
7.1
—
—
—
0
0
171
1488
2.06
3.20
16.2
9.0
3.86
3.87
mmol/l
0.09
165
1433
171
1494
2.03
3.07
16.4
9.0
139.34
139.43
mmol/l
0.21
165
1444
54
353
1.73
2.79
6.6
5.3
93.07
91.17
%
0.25
54
344
11
34
3.36
2.77
37.0
9.6
73.63
68.14
%
0.58
11
34
41
249
1.81
2.71
4.7
3.6
—
—
—
0
0
8
19
4.34
2.71
50.4
14.6
11.63
12.14
%
—
8
19
33
187
1.92
2.70
12.8
5.0
5.11
5.00
kpa
0.47
33
180
6
11
5.58
2.56
79.2
43.2
6.27
7.16
ug/l
—
6
11
9
26
3.57
2.51
1.4
1.8
25.10
19.70
ng/l
—
9
26
10
33
3.14
2.39
40.6
9.1
72.60
67.84
%
—
10
33
27
150
1.93
2.34
14.5
5.8
—
—
—
0
0
45
293
1.69
2.34
3.8
2.5
584.05
599.90
mosm/kgh2o
0.16
40
249
9
29
3.20
2.25
1.1
1.1
—
—
—
0
0
9
29
3.20
2.25
2.0
6.8
36.98
36.93
°c
—
9
29
48
323
1.64
2.20
3.7
2.4
7.92
10.93
e6/l
0.55
42
273
30
178
1.81
2.14
5.5
4.2
6.12
6.87
umol/l
0.10
22
139
11
43
2.65
2.11
1.7
1.1
—
—
—
0
0
36
228
1.71
2.06
19.1
6.7
7.37
7.37
ph
0.06
27
142
34
212
1.73
2.06
19.4
9.3
1.24
1.23
mmol/l
0.04
34
201
71
533
1.52
2.02
7.4
5.7
—
—
—
0
0
115
953
1.49
2.02
9.1
5.1
91.60
83.69
u/l
0.58
107
892
18
93
2.03
1.92
1.4
1.2
—
—
—
0
0
5
12
4.24
1.83
2.4
1.8
—
—
—
0
0
5
12
4.24
1.83
1.6
6.8
0.20
1.17
%
—
5
12
7
24
2.98
1.74
2.7
2.1
—
—
—
0
0
31
198
1.67
1.73
10.3
10.4
—
—
—
0
0
26
159
1.73
1.69
12.5
4.6
9.93
9.79
kpa
0.16
26
153
31
200
1.65
1.67
21.0
6.6
23.90
23.53
mmol/l
0.38
31
200
20
116
1.81
1.55
1.5
1.9
1.05
1.25
g/l
0.51
20
107
11
52
2.18
1.47
1.5
1.7
—
—
—
0
0
6
22
2.78
1.44
2.3
5.2
2.12
2.00
mmol/l
—
6
22
50
373
1.45
1.43
2.0
1.6
—
—
—
0
0
18
104
1.80
1.42
1.7
1.6
199.27
183.05
u/ml
0.15
11
51
57
438
1.42
1.39
5.3
3.0
0.57
0.26
e6/l
0.50
45
295
14
75
1.93
1.38
2.6
1.6
—
—
—
0
0
42
305
1.48
1.37
2.3
3.0
0.89
1.31
mg/l
0.55
31
205
103
876
1.36
1.36
13.3
8.5
0.05
0.00
e9/l
0.50
85
689
178
1666
1.65
1.36
15.3
9.7
20.34
21.47
mg/l
0.18
143
1260
107
917
1.36
1.34
9.9
6.8
0.56
0.52
e9/l
1.32
94
781
116
1008
1.36
1.32
12.4
8.0
4.09
3.81
e9/l
0.69
104
847
62
488
1.39
1.31
5.5
2.4
—
—
—
0
0
23
147
1.64
1.30
10.7
5.1
1.52
1.41
%
0.27
23
132
111
960
1.35
1.29
9.8
6.7
2.25
2.09
e9/l
1.40
102
842
20
124
1.68
1.26
1.3
1.3
—
—
—
0
0
6
25
2.44
1.25
3.0
2.2
5.47
4.78
kpa
—
6
25
6
25
2.44
1.25
3.0
2.2
9.80
9.43
kpa
—
6
25
106
914
1.34
1.24
10.0
6.9
0.04
0.04
e9/l
0.04
94
777
20
126
1.65
1.20
1.2
1.2
—
—
—
0
0
33
235
1.48
1.19
1.6
1.5
—
—
—
0
0
137
1235
1.35
1.15
3.8
2.6
5.50
5.37
mmol/l
0.72
131
1129
7
30
2.38
1.13
2.7
2.1
7.39
7.42
ph
—
7
30
8
40
2.04
1.13
3.0
1.9
—
—
—
0
0
11
192
0.55
1.13
1.3
1.2
—
—
—
0
0
24
162
1.55
1.10
2.7
2.4
4.43
4.15
e9/l
0.26
24
153
5
21
2.42
1.09
1.0
1.1
—
—
—
0
0
193
1869
2.08
1.09
23.0
15.0
7.24
6.90
e9/l
1.48
185
1813
193
1868
2.10
1.09
22.9
15.0
4.54
4.55
e12/l
0.13
184
1814
49
382
1.38
1.09
3.3
2.9
107.36
69.50
ug/g
0.67
36
296
193
1865
2.16
1.08
23.0
15.1
277.58
267.89
e9/l
1.19
185
1814
61
493
1.34
1.08
6.0
2.9
12.08
69.06
e6/l
2.23
49
341
33
240
1.45
1.08
1.8
1.5
—
—
—
0
0
90
770
1.31
1.07
2.3
2.4
—
—
—
0
0
57
457
1.35
1.06
3.4
3.1
0.00
0.01
estimate
0.50
25
185
74
619
1.31
1.03
12.2
7.2
—
—
—
0
0
180
1710
1.55
1.02
11.6
7.8
—
—
—
0
0
148
1361
1.34
1.01
5.4
4.1
14.24
14.33
pmol/l
0.20
142
1235
107
942
1.29
1.01
12.0
7.3
0.18
0.19
e9/l
0.31
99
814
27
192
1.47
0.99
2.2
2.1
—
—
—
0
0
23
158
1.52
0.99
1.3
1.3
209.99
429.59
u/ml
0.62
23
149
20
133
1.56
0.99
1.4
1.5
—
—
—
0
0
17
109
1.61
0.97
1.4
1.1
—
—
—
0
0
28
202
1.45
0.96
1.5
1.3
44.41
143.16
u/ml
—
9
68
12
70
1.76
0.95
5.1
22.4
7.43
7.42
ph
—
7
33
31
229
1.42
0.94
2.3
2.1
—
—
—
0
0
6
27
2.26
0.94
1.3
1.0
—
—
—
0
0
6
28
2.18
0.92
1.7
20.1
—
—
—
0
0
18
119
1.56
0.92
3.6
3.0
5.22
4.93
pmol/l
0.75
18
108
54
439
1.32
0.91
5.4
3.0
—
—
estimate
—
0
0
6
29
2.10
0.90
2.8
2.4
—
—
—
0
0
85
737
1.27
0.87
5.0
3.0
—
—
estimate
—
0
0
54
442
1.30
0.87
2.4
2.7
1.02
1.02
kg/l
0.59
34
276
54
443
1.30
0.85
2.1
1.7
—
—
—
0
0
8
45
1.81
0.85
1.8
3.0
1.03
0.49
nmol/l
—
8
39
35
270
1.36
0.84
1.9
2.2
21.74
11.15
ng/l
0.39
14
74
76
654
1.26
0.82
1.5
1.6
1.82
1.77
g/l
0.15
44
372
8
47
1.73
0.81
2.1
1.6
—
—
—
0
0
162
1526
1.33
0.81
5.9
4.8
2.38
1.75
mu/l
0.83
157
1453
11
174
0.61
0.81
1.0
1.3
—
—
—
0
0
12
74
1.66
0.80
5.3
1.9
0.28
0.17
e6/l
0.25
12
69
61
513
1.27
0.80
3.1
2.5
0.00
0.01
estimate
0.50
24
165
40
319
1.32
0.77
3.0
2.5
5487.24
5688.48
u/l
0.02
18
133
6
34
1.79
0.77
3.5
3.6
2.75
3.35
e9/l
—
6
34
100
896
1.23
0.74
4.4
3.2
0.00
0.00
estimate
-0.00
25
188
100
897
1.23
0.73
4.4
3.3
0.00
0.00
estimate
-0.00
27
185
7
40
1.78
0.72
1.4
3.2
4.10
3.44
mmol/l
—
7
40
99
889
1.23
0.71
4.4
3.2
0.00
0.00
estimate
-0.00
25
190
7
41
1.73
0.70
1.7
1.7
—
—
—
0
0
36
287
1.31
0.70
1.1
1.3
—
—
—
0
0
12
77
1.59
0.70
2.8
1.7
—
—
—
0
0
73
636
1.23
0.70
7.8
3.6
83.84
58.36
e6/l
0.25
50
374
26
198
1.36
0.68
2.3
1.5
—
—
—
0
0
18
128
1.45
0.68
2.7
1.8
0.00
0.00
estimate
—
8
39
7
43
1.65
0.67
7.4
22.9
22.76
24.05
mmol/l
—
7
43
113
1033
1.22
0.67
4.7
3.2
36.28
35.46
mmol/mol
0.35
105
987
5
28
1.81
0.66
1.2
2.4
—
—
—
0
0
7
44
1.61
0.66
1.4
3.3
603.00
329.45
mg/l
—
7
44
5
29
1.74
0.64
1.4
1.0
—
—
—
0
0
8
49
1.66
0.63
6.5
20.4
96.79
96.34
%
—
8
49
59
512
1.22
0.58
2.6
2.3
—
—
—
0
0
13
90
1.48
0.57
1.9
1.5
—
—
—
0
0
33
270
1.27
0.54
5.9
2.6
3.39
3.65
e6/l
0.07
15
110
9
132
0.67
0.54
1.1
1.2
0.62
4.09
u/ml
—
9
83
62
546
1.20
0.52
3.9
2.7
—
0.00
—
0
5
83
753
1.18
0.49
3.9
2.9
6.25
6.33
ph
0.26
46
380
7
45
1.58
0.49
7.3
22.0
0.56
0.60
%
—
7
45
23
182
1.30
0.49
1.6
1.2
—
—
—
0
0
48
415
1.21
0.49
5.7
3.8
—
—
—
0
0
7
47
1.51
0.48
7.3
21.2
1.34
1.04
%
—
7
47
19
147
1.32
0.47
2.5
3.3
—
—
—
0
0
7
49
1.44
0.46
1.7
1.4
—
—
—
0
0
20
158
1.30
0.44
1.8
1.5
—
—
—
0
0
5
31
1.63
0.43
1.4
5.9
3.60
9.55
u/ml
—
5
31
6
94
0.63
0.43
1.0
1.1
0.57
7.94
u/ml
—
6
59
72
654
1.16
0.41
3.2
2.8
0.09
0.01
estimate
0.39
23
153
8
59
1.37
0.41
2.9
2.6
51.88
52.17
%
—
8
59
0
16
0.00
0.41
0.0
1.0
—
25.52
—
0
16
5
35
1.44
0.39
1.6
3.7
—
—
—
0
0
11
80
1.40
0.39
1.2
1.2
—
—
—
0
0
80
737
1.14
0.38
1.6
1.8
3.16
3.23
u/ml
0.01
19
167
51
461
1.14
0.31
1.8
1.6
93.98
95.05
pmol/l
0.08
30
251
11
84
1.33
0.30
1.1
1.4
—
—
—
0
0
50
454
1.14
0.29
2.0
1.7
1.32
1.25
mmol/l
0.33
44
415
9
117
0.76
0.28
1.1
1.1
7.93
6.83
u/ml
—
9
86
19
160
1.21
0.26
1.8
1.6
—
—
—
0
0
23
199
1.18
0.25
2.0
2.3
284.86
738.29
ng/l
—
7
79
5
39
1.29
0.23
1.0
1.8
6.46
6.93
mmol/l
—
5
39
78
737
1.10
0.22
1.9
1.9
—
—
—
0
0
5
41
1.23
0.22
1.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
24
212
1.15
0.20
1.9
2.4
—
—
—
0
0
9
112
0.79
0.20
1.4
1.5
765.22
984.54
nmol/l
—
9
87
9
115
0.77
0.20
1.1
1.1
1.23
0.70
u/ml
—
9
67
0
14
0.00
0.20
0.0
1.1
—
160.86
—
0
14
47
437
1.10
0.18
4.6
3.1
—
—
—
0
0
27
243
1.13
0.18
1.6
1.5
733.33
546.32
titre
—
6
38
29
263
1.12
0.17
3.7
2.0
—
—
—
0
0
7
62
1.13
0.17
6.4
4.3
—
—
—
0
0
54
508
1.09
0.17
2.4
1.8
—
—
—
0
0
27
295
0.90
0.15
1.5
1.9
—
—
—
0
0
27
294
0.91
0.14
1.5
1.9
—
—
—
0
0
27
293
0.91
0.13
1.5
1.9
—
—
—
0
0
16
142
1.14
0.13
1.4
2.1
—
—
—
0
0
27
292
0.91
0.12
1.5
1.9
—
—
—
0
0
53
506
1.06
0.11
3.3
2.7
2.48
2.30
mg/l
0.35
44
440
26
242
1.09
0.10
1.4
1.9
—
—
—
0
0
5
44
1.14
0.10
1.0
1.9
—
—
—
0
0
8
76
1.05
0.07
1.0
1.1
—
14.77
—
0
19
16
173
0.92
0.07
1.1
1.4
3.17
3.15
mmol/l
—
7
108
56
577
0.96
0.06
1.7
1.8
—
—
—
0
0
15
162
0.92
0.06
1.7
1.4
158.56
277.10
miu/ml
—
9
89
10
110
0.90
0.05
1.0
1.0
—
—
—
0
0
72
707
1.03
0.04
2.0
2.0
—
—
—
0
0
12
111
1.09
0.04
3.0
3.2
3.23
6.60
umol/l
—
6
88
120
1212
0.98
0.03
3.9
2.8
1.35
1.44
mmol/l
1.91
115
1164
26
270
0.96
0.03
1.5
1.9
—
—
—
0
0
71
699
1.02
0.03
2.3
1.8
—
—
—
0
0
112
1111
1.02
0.02
5.6
3.3
50.75
47.28
ug/l
0.17
105
1052
23
235
0.98
0.00
1.1
1.2
1.11
5.89
u/ml
—
9
88
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
58.00
—
0
6
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
5.3
—
4.37
—
0
6
0
5
0.00
-0.00
0.0
2.8
—
42.00
—
0
5
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
5
57
0.87
-0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
88
880
1.00
-0.00
2.5
2.5
—
—
—
0
0
8
80
1.00
-0.00
2.3
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
22.88
—
0
5
6
63
0.95
-0.00
1.7
1.2
—
—
—
0
0
5
55
0.91
-0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
26
260
1.00
-0.00
1.1
1.3
11.13
13.98
iu/ml
—
8
50
0
5
0.00
-0.00
0.0
5.6
—
5.80
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
357.00
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
90.80
—
0
5
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_PREPUB and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PREPUB.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: E4_PREPUB – Precocious puberty

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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