Precocious puberty

E4_PREPUB

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

198

4. Check minimum number of events

None

198

5. Include endpoints

None

198

6. Filter based on genotype QC (FinnGen only)

177

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 177 148 29
Unadjusted period prevalence (%) 0.05 0.05 0.01
Median age at first event (years) 9.62 9.03 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
198
Matched controls
1980
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.1
ICD-10 Finland
Precocious puberty
+∞
243.1
180
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
17.3
52.0
47
35
L02AE02
ATC
leuprorelin; implant, parenteral
80.1
40.0
44
7
E22.80
ICD-10 Finland
Central precocious puberty
412.6
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
*
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
8.4
8
*
L02AE04
ATC
triptorelin; parenteral
+∞
8.4
8
*
E28.2
ICD-10 Finland
Polycystic ovarian syndrome
20.9
7.2
10
5
Z3231
NOMESCO Finland
Registered nurse
2.3
7.0
72
392
XLA10, ,
NOMESCO Finland
72.1
6.5
7
*
H01AC01
ATC
somatropin; parenteral
+∞
6.3
6
*
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
6.3
6
*

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
42
92
5.53
19.02
3.4
1.7
7.26
9.36
iu/l
0.37
33
62
45
111
4.95
17.72
3.4
1.6
4.91
6.88
u/l
1.63
33
78
13
11
12.55
7.69
2.0
3.5
5.55
2.95
nmol/l
0.78
13
11
29
130
2.44
4.24
2.4
2.4
—
—
—
0
0
82
548
1.85
4.17
12.0
7.8
1.21
1.22
mmol/l
0.54
74
492
20
75
2.85
4.13
7.8
5.0
0.00
0.10
%
—
8
21
20
79
2.70
3.76
7.8
4.8
0.25
1.04
%
—
8
25
19
73
2.77
3.76
7.9
5.1
0.00
0.11
%
—
7
19
45
254
2.00
3.75
6.0
2.9
7.37
7.40
ph
1.10
12
44
19
75
2.70
3.58
4.6
3.9
0.29
1.09
%
—
7
23
8
14
5.90
3.37
2.1
1.3
—
—
—
0
0
161
1375
1.91
3.19
11.8
7.9
139.25
139.42
mmol/l
0.38
154
1317
160
1370
1.87
3.06
11.7
7.9
3.86
3.86
mmol/l
0.04
153
1305
45
275
1.82
2.93
3.8
2.5
584.68
617.15
mosm/kgh2o
0.34
38
228
6
10
6.15
2.72
54.2
37.6
6.47
6.79
ug/l
—
6
10
36
211
1.86
2.66
4.4
3.6
—
—
—
0
0
18
83
2.29
2.50
10.9
7.1
62.83
47.87
ng/l
0.85
18
78
70
504
1.60
2.47
6.0
4.5
8.44
10.97
umol/l
1.81
65
454
34
202
1.82
2.41
12.2
7.8
24.79
24.88
mmol/l
0.06
34
202
30
172
1.88
2.38
10.8
4.9
5.10
5.02
kpa
0.29
30
164
60
425
1.59
2.24
8.1
6.2
—
—
—
0
0
8
24
3.43
2.20
1.5
1.7
—
—
—
0
0
32
192
1.80
2.20
13.7
8.9
1.24
1.24
mmol/l
0.01
32
185
11
42
2.71
2.18
1.7
1.1
—
—
—
0
0
26
147
1.88
2.15
3.1
2.2
413.19
403.75
nmol/l
0.08
26
137
25
140
1.90
2.13
12.0
5.6
—
—
—
0
0
6
15
4.09
2.05
2.0
7.1
—
—
—
0
0
17
84
2.12
2.02
6.6
10.7
106.18
106.17
mmol/l
0.00
17
84
98
787
1.49
2.01
9.5
7.5
0.05
0.00
e9/l
0.50
80
619
47
322
1.60
2.00
3.8
4.3
1.03
1.05
inr
0.14
17
113
105
856
1.48
2.00
8.0
4.6
94.65
86.91
u/l
0.45
97
797
5
11
4.63
1.95
1.0
1.1
23.00
166.64
pmol/l
—
5
11
101
823
1.46
1.89
8.0
6.4
0.03
0.04
e9/l
0.21
90
707
26
154
1.79
1.87
5.7
4.3
6.33
7.30
umol/l
0.12
20
116
101
825
1.46
1.86
8.0
6.3
0.57
0.52
e9/l
1.14
89
710
46
319
1.58
1.86
3.0
2.8
102.93
64.87
ug/g
0.63
33
242
5
12
4.24
1.83
1.6
1.8
—
—
—
0
0
16
81
2.06
1.80
1.4
1.2
—
—
—
0
0
53
383
1.52
1.78
4.5
3.0
0.61
0.25
e6/l
0.55
42
275
47
331
1.55
1.77
1.9
1.5
—
—
—
0
0
42
289
1.58
1.75
3.7
2.4
6.19
10.04
e6/l
1.07
36
242
14
68
2.14
1.75
2.2
1.6
—
—
—
0
0
106
882
1.43
1.72
7.8
6.2
2.27
2.10
e9/l
1.27
97
782
17
90
1.97
1.71
1.5
1.7
189.20
184.20
u/ml
—
10
45
55
409
1.48
1.60
4.7
2.4
—
—
—
0
0
16
85
1.96
1.60
1.4
1.1
—
—
—
0
0
101
841
1.41
1.60
9.4
6.9
0.19
0.19
e9/l
0.03
94
734
154
1387
1.50
1.55
5.0
4.2
2.41
1.76
mu/l
0.75
145
1307
109
924
1.40
1.53
10.2
7.3
4.09
3.82
e9/l
0.60
98
784
127
1106
1.41
1.52
3.3
2.3
5.47
5.39
mmol/l
0.29
119
997
44
316
1.50
1.51
6.3
5.1
94.52
91.72
%
0.33
44
306
52
390
1.45
1.44
4.5
3.0
—
—
—
0
0
6
22
2.78
1.44
3.0
2.2
—
—
—
0
0
169
1560
1.57
1.43
12.5
8.5
19.35
21.71
mg/l
0.42
125
1109
115
991
1.38
1.43
5.1
3.6
7.45
7.32
mm/h
0.08
110
920
55
418
1.44
1.42
5.2
2.9
9.39
76.02
e6/l
2.35
44
301
11
53
2.14
1.41
1.5
1.6
—
—
—
0
0
138
1231
1.40
1.35
4.7
3.6
14.21
14.36
pmol/l
0.37
129
1116
23
146
1.65
1.33
10.8
4.5
10.10
9.84
kpa
0.33
23
139
21
130
1.69
1.33
10.0
5.2
1.64
1.38
%
0.70
21
117
10
187
0.51
1.27
1.3
1.2
—
—
—
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
26
174
1.57
1.23
1.4
1.3
27.71
148.34
iu/ml
—
8
60
163
1507
1.46
1.22
10.0
6.7
27.67
23.51
u/l
0.83
157
1443
8
38
2.15
1.20
6.4
9.5
0.69
0.61
%
—
8
38
26
176
1.55
1.18
9.2
6.4
23.84
23.45
mmol/l
0.34
26
176
26
176
1.55
1.18
8.9
8.6
—
—
—
0
0
5
20
2.54
1.16
2.6
5.2
2.06
1.92
mmol/l
—
5
20
66
536
1.35
1.14
6.5
3.4
68.47
72.43
e6/l
0.03
45
322
26
178
1.53
1.12
2.1
2.2
—
—
—
0
0
29
204
1.49
1.11
1.8
1.5
—
—
—
0
0
99
859
1.31
1.06
4.0
2.8
36.40
35.90
mmol/mol
0.16
94
812
70
579
1.32
1.06
1.5
1.5
1.82
1.76
g/l
0.15
37
311
35
260
1.42
1.03
1.1
1.2
—
—
—
0
0
17
108
1.63
1.00
1.1
1.3
—
—
—
0
0
17
108
1.63
1.00
3.4
2.7
5.34
4.88
pmol/l
1.28
17
96
7
36
1.98
0.98
3.3
1.9
—
—
—
0
0
6
27
2.26
0.94
1.7
20.7
—
—
—
0
0
17
110
1.60
0.94
1.2
1.2
—
—
—
0
0
5
103
0.47
0.92
1.2
1.2
0.99
4.93
u/ml
—
5
65
25
178
1.46
0.92
2.2
2.1
—
—
—
0
0
89
773
1.27
0.91
9.4
6.5
—
—
—
0
0
16
106
1.55
0.82
1.4
1.5
—
—
—
0
0
6
34
1.79
0.77
3.5
3.6
2.75
3.35
e9/l
—
6
34
35
275
1.33
0.75
2.2
3.0
0.79
1.40
mg/l
0.78
24
179
5
24
2.11
0.75
1.4
1.0
—
—
—
0
0
118
1076
1.24
0.75
5.6
3.7
—
—
—
0
0
27
204
1.37
0.74
1.5
1.5
—
—
—
0
0
11
68
1.65
0.73
1.2
1.1
—
—
—
0
0
7
39
1.82
0.73
1.7
1.6
—
—
—
0
0
55
462
1.26
0.72
2.4
2.3
—
—
—
0
0
9
146
0.60
0.72
1.0
1.3
—
—
—
0
0
7
40
1.78
0.72
2.3
1.7
—
—
—
0
0
75
654
1.24
0.71
1.5
1.7
3.89
3.12
u/ml
0.10
15
137
5
26
1.95
0.71
1.4
1.0
—
—
—
0
0
7
41
1.73
0.70
1.9
3.0
0.81
0.44
nmol/l
—
7
35
29
224
1.35
0.70
4.8
2.6
3.39
3.66
e6/l
0.07
15
106
48
399
1.27
0.69
3.0
3.0
0.00
0.01
estimate
0.50
20
161
30
234
1.33
0.68
1.7
2.2
25.68
11.20
ng/l
0.43
11
59
74
648
1.23
0.67
2.2
2.2
—
—
—
0
0
22
165
1.38
0.64
1.6
1.2
—
—
—
0
0
7
112
0.61
0.60
1.0
1.2
—
—
—
0
0
23
176
1.35
0.60
2.1
1.4
—
—
—
0
0
18
132
1.40
0.59
1.2
1.3
208.54
488.85
u/ml
0.67
18
123
51
435
1.23
0.59
3.1
2.5
—
—
—
0
0
6
35
1.74
0.58
3.5
3.6
50.67
51.83
%
—
6
35
5
88
0.56
0.57
1.2
1.2
0.89
0.65
u/ml
—
5
55
11
73
1.54
0.57
2.1
1.5
—
—
—
0
0
5
89
0.55
0.57
2.0
2.1
—
21.20
—
0
5
5
90
0.54
0.57
1.2
1.2
13.12
7.28
u/ml
—
5
66
14
99
1.45
0.56
1.5
1.9
1.25
1.21
g/l
0.05
14
89
18
134
1.38
0.55
1.6
1.4
—
—
—
0
0
18
134
1.38
0.55
1.6
1.4
—
—
—
0
0
9
61
1.50
0.54
1.1
1.4
—
—
—
0
0
47
401
1.23
0.54
2.1
1.6
—
—
—
0
0
6
97
0.61
0.53
1.0
1.0
—
—
—
0
0
169
1628
1.26
0.50
11.1
7.1
—
—
—
0
0
7
45
1.58
0.49
2.7
1.7
—
—
—
0
0
33
274
1.25
0.49
3.0
2.5
5683.90
4898.21
u/l
0.08
17
114
83
755
1.17
0.48
3.6
3.0
0.00
0.00
estimate
-0.00
21
161
18
138
1.33
0.47
1.7
1.5
—
—
—
0
0
5
81
0.61
0.47
1.0
1.2
—
26.34
—
0
5
11
77
1.45
0.46
2.4
2.1
—
—
—
0
0
82
750
1.16
0.43
3.7
2.9
0.00
0.00
estimate
-0.00
20
165
5
31
1.63
0.43
1.4
5.1
3.60
9.55
u/ml
—
5
31
41
354
1.20
0.43
1.7
1.4
92.44
96.39
pmol/l
0.27
23
191
185
1808
1.35
0.43
18.3
12.7
278.39
267.56
e9/l
1.33
177
1749
8
58
1.40
0.42
2.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.8
—
—
—
0
0
5
35
1.44
0.39
1.4
3.3
200.40
222.47
e6/l
—
5
30
5
35
1.44
0.39
2.0
27.5
—
—
—
0
0
5
36
1.40
0.38
1.2
3.2
4.42
3.43
mmol/l
—
5
36
5
36
1.40
0.38
1.0
1.8
6.46
6.48
mmol/l
—
5
36
81
747
1.14
0.37
5.5
4.2
0.00
0.00
estimate
-0.00
20
163
185
1812
1.32
0.37
18.0
12.8
39.85
39.77
%
0.10
177
1736
185
1813
1.31
0.36
18.2
12.6
4.53
4.55
e12/l
0.23
176
1752
18
145
1.27
0.35
2.4
3.2
—
—
—
0
0
185
1815
1.29
0.33
18.3
12.6
7.35
6.89
e9/l
1.83
177
1750
47
421
1.15
0.33
3.1
2.6
2.55
2.44
mg/l
0.17
38
362
69
635
1.13
0.32
3.2
2.7
6.28
5.89
ph
—
9
59
15
120
1.27
0.31
1.3
2.0
—
—
—
0
0
20
169
1.20
0.27
1.9
2.3
218.00
693.50
ng/l
—
6
68
5
39
1.29
0.23
1.2
3.4
751.80
334.28
mg/l
—
5
39
20
173
1.17
0.22
1.9
2.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
164.69
—
0
13
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
6
53
1.14
0.19
1.7
1.2
—
—
—
0
0
39
359
1.11
0.18
3.6
2.9
—
—
—
0
0
22
195
1.14
0.18
1.4
1.8
—
—
—
0
0
7
62
1.13
0.17
6.4
4.3
—
—
—
0
0
7
63
1.12
0.17
1.6
1.5
—
—
—
0
0
5
70
0.71
0.17
14.4
5.1
—
—
—
0
0
9
110
0.81
0.13
1.4
1.5
765.22
991.87
nmol/l
—
9
86
23
210
1.11
0.12
1.7
1.5
368.00
667.43
titre
—
5
35
38
358
1.08
0.11
2.4
2.6
1.02
1.02
kg/l
—
8
50
36
380
0.94
0.10
2.4
1.6
—
—
—
0
0
6
55
1.09
0.09
1.8
1.8
—
—
—
0
0
62
601
1.05
0.07
1.8
1.8
—
—
—
0
0
22
206
1.08
0.07
1.1
1.2
11.29
13.58
iu/ml
—
7
44
23
244
0.94
0.07
1.4
1.8
—
—
—
0
0
23
243
0.94
0.06
1.4
1.8
—
—
—
0
0
105
1066
0.97
0.05
3.3
2.3
1.34
1.45
mmol/l
2.14
100
1011
23
242
0.94
0.05
1.4
1.8
—
—
—
0
0
23
242
0.94
0.05
1.4
1.8
—
—
—
0
0
79
804
0.97
0.04
2.5
2.3
—
—
—
0
0
11
101
1.09
0.04
3.0
3.1
3.23
7.27
umol/l
—
6
81
94
927
1.03
0.04
5.4
2.8
48.35
48.34
ug/l
0.00
83
864
46
468
0.98
0.01
1.7
1.7
—
—
—
0
0
19
191
0.99
0.00
1.1
1.2
1.14
6.61
u/ml
—
8
71
22
221
0.99
0.00
1.4
1.8
—
—
—
0
0
67
666
1.01
0.00
1.9
1.9
—
—
—
0
0
64
635
1.01
0.00
2.3
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.2
—
—
—
0
0
8
79
1.01
-0.00
2.3
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
5.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
357.00
—
0
5
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
33.6
—
0.49
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
22.88
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
0.65
—
0
6
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
79.71
—
0
5
0
5
0.00
-0.00
0.0
5.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
1.52
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
58.00
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
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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