Precocious puberty

E4_PREPUB

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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.

196

4. Check minimum number of events

None

196

5. Include endpoints

None

196

6. Filter based on genotype QC (FinnGen only)

196

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 196 164 32
Unadjusted period prevalence (%) 0.05 0.06 0.01
Median age at first event (years) 9.50 8.95 12.28

-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 (R11)

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
172
Matched controls
1720
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.1
ICD-10 Finland
Precocious puberty
+∞
208.3
155
*
L02AE02
ATC
leuprorelin; implant, parenteral
86.0
36.8
40
6
E22.80
ICD-10 Finland
Central precocious puberty
377.9
32.0
31
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
24.5
30.2
43
23
2591A
ICD-9 Finland
Other endocrine disorders, Precocious sexual development and puberty, not elsewhere classified
+∞
20.2
19
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
19.1
18
*
E27.0
ICD-10 Finland
Other adrenocortical overactivity
64.1
10.8
12
*
L02AE04
ATC
triptorelin; parenteral
+∞
8.4
8
*
E34.45
ICD-10 Finland
Abnormal growth increase
83.5
7.5
8
*
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
7.3
7
*
P05.1
ICD-10 Finland
Small for gestational age
18.9
6.3
9
5
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
6.3
6
*
H01AC01
ATC
somatropin; parenteral
+∞
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
41
90
5.50
18.51
3.3
1.7
7.0
9.4
iu/l
0.43
32
62
44
109
4.92
17.23
3.4
1.6
4.6
6.9
u/l
2.11
32
78
13
8
17.28
8.68
2.0
1.4
5.6
3.9
nmol/l
—
13
8
29
126
2.53
4.53
2.4
2.4
—
—
—
0
0
20
73
2.94
4.33
7.8
5.1
0.2
0.1
%
—
6
18
55
323
1.98
4.14
3.2
2.1
2.4
2.4
mmol/l
0.05
50
290
19
71
2.86
3.95
7.9
5.3
0.0
0.0
%
—
6
16
20
77
2.78
3.95
7.8
4.9
0.3
0.6
%
—
6
20
45
254
2.00
3.76
6.0
3.0
7.4
7.4
ph
1.13
12
43
8
14
5.91
3.37
2.1
1.3
—
—
—
0
0
159
1364
1.88
3.01
11.9
7.9
139.3
139.4
mmol/l
0.28
152
1305
6
9
6.83
2.89
54.2
40.0
6.5
6.7
ug/l
—
6
9
158
1359
1.84
2.88
11.7
7.9
3.9
3.9
mmol/l
0.11
151
1293
44
270
1.81
2.83
3.7
2.4
610.2
611.2
mosm/kgh2o
0.01
37
223
70
501
1.62
2.55
6.0
4.5
8.4
9.9
umol/l
1.28
65
451
35
207
1.84
2.52
4.5
4.0
—
—
—
0
0
18
83
2.29
2.50
10.9
6.8
62.8
48.8
ng/l
0.77
18
78
29
164
1.90
2.39
10.8
4.5
5.1
5.1
kpa
0.05
29
155
8
22
3.74
2.39
1.5
1.7
—
—
—
0
0
33
195
1.83
2.38
12.5
7.3
24.8
24.9
mmol/l
0.01
33
195
11
41
2.78
2.32
1.7
1.1
—
—
—
0
0
59
414
1.61
2.30
8.2
6.8
—
—
—
0
0
31
184
1.81
2.21
14.0
9.4
1.2
1.2
mmol/l
0.16
31
178
6
14
4.38
2.16
2.0
7.9
—
—
—
0
0
24
132
1.93
2.15
12.0
5.2
—
—
—
0
0
17
82
2.18
2.14
6.6
9.5
106.1
106.2
mmol/l
0.02
17
82
97
775
1.50
2.07
9.6
7.8
0.1
0.0
e9/l
0.50
79
607
43
287
1.64
2.03
3.0
3.7
1.0
1.0
inr
0.07
16
99
25
143
1.86
2.00
3.2
2.2
416.9
404.8
nmol/l
0.11
25
133
100
811
1.48
1.94
8.1
6.5
0.6
0.5
e9/l
0.95
88
696
100
811
1.48
1.94
8.1
6.5
0.0
0.0
e9/l
0.19
89
695
46
317
1.59
1.91
3.1
2.8
105.5
64.0
ug/g
0.67
33
239
8
28
2.93
1.88
1.1
1.1
—
—
—
0
0
26
154
1.79
1.87
5.7
4.4
6.3
7.3
umol/l
0.12
20
116
16
80
2.09
1.86
1.4
1.1
—
—
—
0
0
5
12
4.24
1.83
1.6
1.8
—
—
—
0
0
105
868
1.45
1.80
7.9
6.3
2.3
2.1
e9/l
1.35
96
766
17
89
2.00
1.76
1.5
1.7
189.2
183.9
u/ml
—
10
46
47
332
1.55
1.75
1.9
1.5
—
—
—
0
0
52
376
1.52
1.74
4.6
2.8
0.3
0.3
e6/l
0.18
41
268
55
405
1.50
1.69
4.7
2.5
—
—
—
0
0
14
69
2.11
1.69
2.2
1.6
—
—
—
0
0
100
829
1.42
1.64
9.5
7.1
0.2
0.2
e9/l
0.04
93
722
44
311
1.53
1.63
6.3
5.0
94.5
91.9
%
0.29
44
301
115
979
1.42
1.62
5.1
3.6
7.5
7.4
mm/h
0.03
110
909
16
85
1.96
1.60
1.4
1.1
—
—
—
0
0
108
911
1.41
1.59
10.3
7.6
4.1
3.8
e9/l
0.48
97
771
41
287
1.54
1.59
3.8
2.4
6.4
10.1
e6/l
0.95
34
237
70
552
1.42
1.49
8.8
6.8
—
—
—
0
0
126
1102
1.40
1.44
3.3
2.3
5.5
5.4
mmol/l
0.28
119
993
6
22
2.78
1.44
3.0
2.2
—
—
—
0
0
152
1376
1.47
1.42
5.1
4.2
2.4
1.8
mu/l
0.77
144
1296
11
53
2.14
1.41
1.5
1.6
—
—
—
0
0
51
383
1.45
1.41
4.6
2.8
—
—
—
0
0
54
410
1.44
1.41
5.3
2.8
9.0
77.0
e6/l
2.35
43
295
167
1547
1.54
1.32
12.5
8.6
19.3
21.6
mg/l
0.40
123
1104
6
24
2.55
1.31
3.0
2.3
9.8
9.6
kpa
—
6
24
6
24
2.55
1.31
3.0
2.3
5.5
4.7
kpa
—
6
24
22
139
1.66
1.30
10.8
4.0
10.3
9.8
kpa
0.78
22
131
10
187
0.51
1.27
1.3
1.2
—
—
—
0
0
162
1497
1.47
1.24
10.0
6.7
27.6
23.5
u/l
0.83
156
1434
136
1220
1.37
1.24
4.8
3.7
14.2
14.3
pmol/l
0.26
128
1106
26
174
1.57
1.23
1.4
1.3
27.7
148.3
iu/ml
—
8
60
20
127
1.64
1.17
10.5
5.6
1.6
1.4
%
0.65
20
114
5
20
2.54
1.16
2.6
5.1
2.1
1.9
mmol/l
—
5
20
35
254
1.46
1.15
1.1
1.2
—
—
—
0
0
26
177
1.54
1.15
2.1
2.2
—
—
—
0
0
25
169
1.55
1.14
9.2
8.7
—
—
—
0
0
70
575
1.34
1.12
1.5
1.5
1.8
1.8
g/l
0.15
37
313
65
528
1.35
1.12
6.6
3.2
49.2
73.6
e6/l
0.25
44
316
29
206
1.48
1.06
1.8
1.5
—
—
—
0
0
17
107
1.64
1.03
1.1
1.3
—
—
—
0
0
7
35
2.04
1.01
3.3
1.8
—
—
—
0
0
17
108
1.63
1.00
3.4
2.7
5.3
4.9
pmol/l
1.28
17
96
17
108
1.63
1.00
1.2
1.1
—
—
—
0
0
5
23
2.20
0.98
2.6
2.1
—
—
—
0
0
6
27
2.26
0.94
1.7
20.7
—
—
—
0
0
25
180
1.45
0.87
2.2
2.1
—
—
—
0
0
6
32
1.90
0.82
3.5
3.7
2.7
3.4
e9/l
—
6
32
16
106
1.55
0.82
1.4
1.5
—
—
—
0
0
75
646
1.26
0.81
1.5
1.7
3.9
3.1
u/ml
0.10
15
137
6
33
1.84
0.79
3.5
3.8
50.7
52.4
%
—
6
33
5
100
0.49
0.79
1.2
1.2
1.0
2.1
u/ml
—
5
49
117
1063
1.25
0.78
5.6
3.7
—
—
—
0
0
35
275
1.33
0.75
2.2
2.8
0.8
1.4
mg/l
0.77
24
180
5
24
2.11
0.75
1.4
1.0
—
—
—
0
0
7
38
1.87
0.74
1.7
1.6
—
—
—
0
0
27
204
1.38
0.74
1.5
1.5
—
—
—
0
0
54
452
1.27
0.73
2.4
2.3
—
—
—
0
0
7
39
1.82
0.73
1.9
3.2
0.8
0.5
nmol/l
—
7
33
9
142
0.62
0.73
1.0
1.3
—
—
—
0
0
48
397
1.28
0.72
3.0
3.0
0.0
0.0
estimate
0.50
20
160
5
26
1.95
0.71
1.4
1.0
—
—
—
0
0
7
41
1.73
0.70
2.3
1.7
—
—
—
0
0
18
128
1.45
0.68
1.2
1.3
208.5
496.8
u/ml
0.68
18
120
30
234
1.33
0.68
1.7
2.1
25.7
11.3
ng/l
0.43
11
58
23
173
1.37
0.65
2.1
1.5
—
—
—
0
0
22
165
1.38
0.64
1.6
1.2
—
—
—
0
0
51
432
1.24
0.63
3.1
2.5
—
—
—
0
0
8
51
1.59
0.61
6.1
6.0
—
1.1
—
0
15
11
72
1.56
0.60
2.1
1.5
—
—
—
0
0
7
113
0.61
0.60
1.0
1.2
—
—
—
0
0
73
647
1.20
0.58
2.2
2.2
—
—
—
0
0
5
86
0.57
0.57
2.0
2.1
—
21.2
—
0
5
5
87
0.56
0.57
1.0
1.1
—
8.3
—
0
22
5
88
0.56
0.57
1.2
1.2
13.1
7.4
u/ml
—
5
65
14
99
1.45
0.56
1.5
1.8
1.2
1.2
g/l
0.08
14
89
47
400
1.23
0.56
2.1
1.6
—
—
—
0
0
18
134
1.38
0.55
1.6
1.4
—
—
—
0
0
18
134
1.38
0.55
1.6
1.4
—
—
—
0
0
168
1615
1.28
0.55
11.1
7.2
—
—
—
0
0
83
748
1.19
0.55
3.6
3.0
0.0
0.0
estimate
0.00
21
161
82
739
1.19
0.54
3.7
2.9
0.0
0.0
estimate
0.00
19
155
43
364
1.23
0.53
5.3
3.5
—
—
—
0
0
9
63
1.45
0.53
1.1
1.4
—
—
—
0
0
10
67
1.52
0.50
1.2
1.1
—
—
—
0
0
33
273
1.25
0.50
3.0
2.4
5683.9
4898.2
u/l
0.08
17
114
7
45
1.58
0.49
2.7
1.7
—
—
—
0
0
18
138
1.34
0.47
1.7
1.5
—
—
—
0
0
11
77
1.45
0.46
2.4
2.1
—
—
—
0
0
5
85
0.58
0.46
1.2
1.2
0.9
0.7
u/ml
—
5
53
81
740
1.16
0.44
5.5
4.1
0.0
0.0
estimate
0.00
20
163
6
95
0.62
0.43
1.0
1.0
—
—
—
0
0
41
354
1.20
0.43
1.7
1.4
92.4
96.4
pmol/l
0.27
23
191
183
1789
1.35
0.41
18.4
12.8
278.4
267.1
e9/l
1.39
175
1732
8
59
1.37
0.41
2.0
1.4
—
—
—
0
0
5
34
1.48
0.40
1.2
3.3
4.4
3.5
mmol/l
—
5
34
5
34
1.48
0.40
1.4
3.3
200.4
230.1
e6/l
—
5
29
5
34
1.48
0.40
2.0
26.8
—
—
—
0
0
0
18
0.00
0.40
0.0
1.8
—
—
—
0
0
66
600
1.15
0.37
3.2
2.7
—
—
—
0
0
5
79
0.62
0.36
1.0
1.2
—
26.3
—
0
5
47
418
1.16
0.36
3.1
2.6
2.6
2.4
mg/l
0.22
38
359
18
145
1.27
0.35
2.4
3.2
—
—
—
0
0
183
1794
1.30
0.35
18.4
12.7
4.5
4.5
e12/l
0.17
174
1735
183
1796
1.29
0.32
18.4
12.7
7.3
6.9
e9/l
1.68
175
1732
20
166
1.23
0.31
1.9
2.3
218.0
542.8
ng/l
—
6
66
15
120
1.27
0.31
1.3
1.9
—
—
—
0
0
39
353
1.13
0.24
3.6
2.8
—
—
—
0
0
5
37
1.36
0.23
1.2
3.2
751.8
337.0
mg/l
—
5
37
20
173
1.17
0.22
1.9
2.3
—
—
—
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
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
151.2
—
0
12
6
51
1.18
0.19
1.7
1.2
—
—
—
0
0
22
195
1.14
0.18
1.4
1.8
—
—
—
0
0
7
61
1.15
0.17
6.4
4.4
—
—
—
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
23
208
1.12
0.14
1.7
1.5
368.0
667.4
titre
—
5
35
9
109
0.82
0.13
1.4
1.5
765.2
991.9
nmol/l
—
9
86
38
357
1.08
0.12
2.4
2.6
1.0
1.0
kg/l
—
8
49
36
381
0.93
0.10
2.4
1.6
—
—
—
0
0
22
203
1.09
0.10
1.1
1.2
11.3
13.7
iu/ml
—
7
43
6
54
1.11
0.09
1.8
1.8
—
—
—
0
0
62
602
1.04
0.07
1.8
1.8
—
—
—
0
0
23
244
0.93
0.07
1.4
1.8
—
—
—
0
0
23
243
0.94
0.06
1.4
1.8
—
—
—
0
0
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
805
0.97
0.05
2.5
2.3
—
—
—
0
0
11
101
1.09
0.04
3.0
2.7
3.2
5.2
umol/l
—
6
80
45
462
0.97
0.04
1.7
1.7
—
—
—
0
0
94
927
1.03
0.04
5.4
2.8
48.3
49.9
ug/l
0.06
83
865
163
1622
1.03
0.02
14.3
10.2
38.7
39.9
%
1.21
140
1415
67
664
1.01
0.00
1.9
1.9
—
—
—
0
0
22
221
0.99
0.00
1.4
1.8
—
—
—
0
0
64
636
1.01
0.00
2.3
1.7
—
—
—
0
0
19
188
1.01
0.00
1.1
1.2
1.1
6.6
u/ml
—
8
71
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
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
6
0.00
0.00
0.0
3.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
79.7
—
0
5
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
8
79
1.01
0.00
2.3
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
357.0
—
0
5
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
33.6
—
0.5
—
0
5
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
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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