Disorders of puberty

E4_DISPUB

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
  • Cause of death: ICD-10 E30

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

585

4. Check minimum number of events

None

585

5. Include endpoints

621

6. Filter based on genotype QC (FinnGen only)

621

Control definitions (FinnGen only)

Control exclude
E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E20-E35
Name in latin
Perturbationes pubertatis non alibi classificatae

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 13514 6222 7284
Only index persons 12248 5115 7133
Unadjusted period prevalence (%)
Whole population 0.19 0.18 0.20
Only index persons 0.24 0.19 0.27
Median age at first event (years)
Whole population 12.30 9.31 14.85
Only index persons 12.72 9.74 14.86

-FinnGen-

Key figures

All Female Male
Number of individuals 621 394 227
Unadjusted period prevalence (%) 0.12 0.13 0.10
Median age at first event (years) 12.18 10.60 14.92

-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

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
560
Matched controls
5601
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.1
ICD-10 Finland
Precocious puberty
+∞
173.1
157
*
E30.09
ICD-10 Finland
Delayed puberty NOS
+∞
170.8
155
*
E30.00
ICD-10 Finland
Familial delayed puberty
2024.3
161.7
149
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
23.8
106.8
157
90
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
79.1
74
*
E30.8
ICD-10 Finland
Other disorders of puberty
731.2
67.4
65
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
36.2
63.0
81
26
E34.35
ICD-10 Finland
Abnormal growth retardation
+∞
55.1
52
*
E22.80
ICD-10 Finland
Central precocious puberty
426.7
40.6
40
*
L02AE02
ATC
leuprorelin; implant, parenteral
34.2
38.6
50
16
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
35.8
34
*
H01AC01
ATC
somatropin; parenteral
330.4
31.1
31
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
30.5
29
*
E34.39
ICD-10 Finland
Short stature, not elsewhere classified
114.3
20.7
22
*
2590A
ICD-9 Finland
Other endocrine disorders, Delay in sexual development and puberty, not elsewhere classified
+∞
19.9
19
*
2591A
ICD-9 Finland
Other endocrine disorders, Precocious sexual development and puberty, not elsewhere classified
+∞
19.9
19
*
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
+∞
17.8
17
*
E27.0
ICD-10 Finland
Other adrenocortical overactivity
+∞
17.8
17
*
121
Kela drug reimbursment
Severe hypofunction of sexual glands
43.5
17.4
21
5
E23.04
ICD-10 Finland
Hypogonadotropic hypogonadism
153.8
14.5
15
*
AA4CG
NOMESCO Finland
Extensive MRI examination of sella turcica with high intensity magnet
28.0
14.4
19
7
H03AA01
ATC
levothyroxine sodium; systemic
2.9
13.2
87
338
N91.0
ICD-10 Finland
Primary amenorrhoea
29.1
13.0
17
6
E34.45
ICD-10 Finland
Abnormal growth increase
+∞
12.5
12
*
E34.30
ICD-10 Finland
Short stature NOS
+∞
12.5
12
*
301
Kela drug reimbursment
Growth hormone
+∞
12.5
12
*
R62.8
ICD-10 Finland
Other lack of expected normal physiological development
12.0
12.4
22
19
G03FB08
ATC
dydrogesterone and estrogen; systemic (progestogens and estrogens, sequential prep.)
12.2
10.9
19
16
G03DB01
ATC
dydrogesterone; oral
3.5
10.6
49
148
104
Kela drug reimbursment
Thyroid insufficiency
5.5
10.4
30
57
E28.2
ICD-10 Finland
Polycystic ovarian syndrome
10.3
10.1
19
19
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
4.4
10.0
36
87
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.0
9.8
141
799
LC2AE
NOMESCO Finland
Ultrasound examination of uterus and parametria
2.9
9.7
60
223
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
3.3
9.7
48
154
E30.0
ICD-10 Finland
Delayed puberty
+∞
9.4
9
*
E23.00
ICD-10 Finland
Panhypopituitarism
+∞
9.4
9
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
9.7
9.3
18
19
602
Kela drug reimbursment
Children's severe malnutrition
5.4
8.7
25
48
E29.1
ICD-10 Finland
Testicular hypofunction
28.0
8.5
11
*
186
Kela drug reimbursment
Growth retardation associated with renal failure (growth hormone)
91.4
8.4
9
*
R1260
NOMESCO Finland
Evaluation of communicative skills
8.0
8.4
18
23
E28.3
ICD-10 Finland
Primary ovarian failure
+∞
8.4
8
*
L02AE04
ATC
triptorelin; parenteral
+∞
8.4
8
*
H02AB09
ATC
hydrocortisone; systemic
4.1
8.3
31
79
G03CA03
ATC
estradiol; nasal, systemic, rectal, transdermal, vaginal
2.7
8.2
55
216
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
2.6
8.2
61
253
7806A
ICD-9 Finland
General symptoms, Pyrexia of unknown origin
22.4
8.0
11
5
RD210
NOMESCO Finland
NA
3.4
7.9
37
115
T10
ICPC
Growth delay
18.7
7.6
11
6
T99
ICPC
Endocr/metab/nutrit disease other
12.1
7.6
13
11
XA800
NOMESCO Finland
Neuropsychological investigation
3.2
7.6
38
124
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.3
7.5
68
315
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.1
7.4
93
495
E23.02
ICD-10 Finland
Neurosecretory dysfunction of the growth hormone
+∞
7.3
7
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
2.6
7.1
50
204
F82
ICD-10 Finland
Specific developmental disorder of motor function
4.7
7.0
22
48
N91.1
ICD-10 Finland
Secondary amenorrhoea
4.0
6.9
26
68
TPH04
NOMESCO Finland
Cathetrisation of vein
2.1
6.8
83
435
L04AA01
ATC
[U] ciclosporin; systemic
11.1
6.8
12
11
R62.0
ICD-10 Finland
Delayed milestone
4.0
6.8
25
64
F83
ICD-10 Finland
Mixed specific developmental disorders
4.0
6.7
25
65
WX408
NOMESCO Finland
General anesthesy, balanced
1.8
6.6
133
839
KAC00
NOMESCO Finland
Nephrectomy
70.6
6.4
7
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.0
6.2
81
441
WX404
NOMESCO Finland
Intravenous generell anesthesy
1.9
6.2
100
586
R4110
NOMESCO Finland
Physiotherapy
1.8
6.1
106
639
RK220
NOMESCO Finland
NA
10.2
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
151
280
6.80
82.01
3.3
1.6
5.0
5.9
u/l
0.71
119
206
144
267
6.72
78.00
3.2
1.6
8.3
9.9
iu/l
0.40
118
195
115
284
4.74
44.05
3.5
1.7
6.9
12.6
nmol/l
8.62
102
258
29
19
15.96
33.30
2.1
2.0
4.7
3.5
nmol/l
0.70
29
19
32
60
5.57
16.53
1.7
1.6
—
—
—
0
0
183
994
2.19
16.40
2.6
2.4
2.4
2.4
mmol/l
0.15
170
891
454
3594
1.98
12.62
4.7
3.6
14.4
14.4
pmol/l
0.15
426
3251
41
119
3.62
12.29
1.9
1.4
0.3
0.4
nmol/l
0.24
34
98
91
413
2.41
12.20
2.8
2.1
368.5
389.6
nmol/l
0.49
86
386
243
1635
1.80
10.88
9.6
7.2
1.2
1.2
mmol/l
0.55
209
1434
221
1509
1.72
9.03
9.7
7.3
1.2
1.2
mmol/l
0.16
208
1405
46
176
2.74
8.73
1.6
1.4
8.4
3.5
ug/l
1.33
40
169
78
384
2.18
8.57
1.7
1.4
349.9
325.5
mu/l
0.23
73
336
349
2736
1.63
8.06
7.3
5.5
93.6
84.8
u/l
1.76
329
2551
194
1312
1.70
8.04
5.9
5.4
37.9
38.2
g/l
0.42
183
1219
488
4177
1.79
8.01
5.4
4.0
2.1
2.1
mu/l
0.03
468
3917
246
1777
1.64
7.86
1.5
1.6
1.8
2.2
u/ml
0.15
53
389
222
1574
1.64
7.59
1.6
1.5
1.9
1.9
g/l
0.04
114
900
135
857
1.74
6.92
4.6
3.1
7.4
7.4
ph
1.01
36
165
488
4261
1.68
6.47
12.5
8.5
3.9
3.9
mmol/l
0.53
469
4076
125
792
1.72
6.42
3.3
2.6
623.6
591.2
mosm/kgh2o
0.61
111
678
19
51
3.81
6.40
1.0
1.0
—
—
—
0
0
108
658
1.78
6.36
1.1
1.2
—
—
—
0
0
487
4257
1.67
6.35
12.7
8.5
139.5
139.5
mmol/l
0.07
470
4088
21
62
3.47
6.19
3.7
2.7
—
—
—
0
0
128
829
1.69
6.04
3.7
2.5
5.1
8.4
e6/l
2.32
108
715
289
2281
1.50
5.73
9.9
8.6
0.0
0.0
e9/l
0.51
235
1820
65
348
1.97
5.71
10.3
5.3
—
—
—
0
0
76
430
1.87
5.67
9.8
4.8
7.4
7.4
ph
—
9
30
285
2249
1.49
5.62
8.9
7.4
0.6
0.6
%
0.35
275
2128
219
1638
1.52
5.58
5.4
5.4
10.2
10.6
umol/l
0.36
206
1506
501
4461
1.64
5.51
15.5
11.4
13.2
13.1
%
1.37
493
4368
17
48
3.61
5.36
2.8
5.9
—
—
—
0
0
168
1199
1.55
5.26
7.5
7.5
—
—
—
0
0
162
1148
1.56
5.24
3.7
3.1
0.3
0.2
e6/l
0.30
123
842
291
2333
1.47
5.16
8.9
7.2
3.0
2.9
%
0.17
281
2195
301
2430
1.46
5.14
8.6
7.2
0.6
0.5
e9/l
1.66
265
2099
24
87
2.83
5.09
1.7
1.5
113.6
212.2
pmol/l
2.86
24
82
115
759
1.63
5.00
2.8
2.3
184.0
217.9
u/l
0.33
109
719
314
2569
1.45
4.93
8.5
7.0
2.1
2.0
e9/l
0.46
285
2275
300
2434
1.45
4.92
8.7
7.2
0.0
0.0
e9/l
0.03
267
2103
141
981
1.57
4.91
4.3
4.5
1.1
1.1
inr
0.60
55
349
330
2727
1.45
4.90
10.2
8.8
3.7
3.8
e9/l
0.11
291
2342
594
5604
2.38
4.89
17.6
13.0
265.1
262.4
e9/l
0.44
574
5424
108
706
1.64
4.87
4.4
3.8
—
—
—
0
0
594
5611
2.35
4.75
17.6
12.9
88.0
88.0
fl
0.02
587
5524
594
5612
2.34
4.73
17.6
12.9
29.5
29.5
pg
0.42
587
5526
594
5613
2.34
4.71
17.7
13.0
4.6
4.6
e12/l
0.91
573
5421
305
2497
1.44
4.69
8.8
6.9
32.3
32.2
%
0.04
294
2369
79
481
1.74
4.64
11.8
9.2
25.4
24.8
mmol/l
0.83
79
481
594
5618
2.32
4.61
17.7
13.0
6.8
6.7
e9/l
0.08
574
5430
594
5619
2.31
4.59
17.8
13.1
135.1
136.5
g/l
1.75
587
5534
289
2352
1.43
4.54
9.5
7.3
8.3
8.1
%
1.00
277
2227
215
1657
1.46
4.54
8.6
7.5
—
—
—
0
0
8
8
10.11
4.53
2.1
2.1
9.0
4.3
%
—
8
8
8
8
10.11
4.53
2.1
2.1
—
—
—
0
0
304
2500
1.42
4.49
9.4
7.6
0.2
0.2
e9/l
0.04
277
2195
72
431
1.76
4.48
3.8
2.5
25.3
24.2
%
0.19
66
389
358
3035
1.42
4.44
4.9
3.7
8.4
7.4
mm/h
0.97
334
2801
55
304
1.89
4.43
6.7
4.7
0.4
0.8
%
1.28
13
71
298
2447
1.42
4.42
8.4
6.8
52.9
53.6
%
0.48
287
2329
168
1241
1.48
4.38
4.2
3.1
18.1
119.3
e6/l
1.07
126
921
10
22
4.60
4.31
1.5
2.3
—
—
—
0
0
159
1166
1.49
4.29
3.7
3.0
—
—
—
0
0
52
286
1.89
4.26
7.0
4.8
0.1
0.0
%
0.33
13
54
14
42
3.39
4.06
3.5
3.1
198.6
79.0
u/ml
—
5
12
272
2225
1.40
4.00
5.4
4.7
6.4
6.2
mmol/l
0.68
250
1971
15
48
3.18
3.95
2.9
3.6
2.3
2.4
mmol/l
0.03
15
48
21
82
2.62
3.92
1.4
1.3
300.5
364.0
ug/g
—
8
34
525
4837
1.55
3.83
12.3
9.0
18.2
21.2
mg/l
1.57
399
3439
51
289
1.83
3.82
5.9
4.3
0.4
0.5
%
—
10
52
18
67
2.74
3.68
2.7
2.7
18.0
17.7
%
0.10
13
37
83
547
1.60
3.61
6.0
7.2
1.7
1.4
mmol/l
0.42
75
438
143
1060
1.45
3.60
3.8
3.9
9.5
9.1
mmol/l
0.26
132
950
45
252
1.85
3.52
4.4
4.5
68.3
63.6
e9/l
0.32
32
172
394
3474
1.37
3.42
3.1
2.4
5.5
5.4
mmol/l
0.31
373
3196
50
294
1.76
3.35
7.3
4.7
0.1
0.1
%
0.04
12
64
57
348
1.70
3.34
3.7
3.7
0.2
0.2
g/l
0.15
57
332
11
32
3.48
3.34
5.2
19.1
12.6
11.4
mmol/l
0.43
11
25
80
533
1.58
3.33
3.6
2.4
15.3
15.0
umol/l
0.10
74
496
332
2865
1.34
3.25
4.1
3.1
37.2
36.6
mmol/mol
0.44
315
2694
149
1133
1.41
3.24
1.7
1.5
90.2
97.3
pmol/l
1.26
77
626
74
488
1.59
3.22
3.7
2.4
2.5
2.6
g/l
0.14
68
443
10
28
3.61
3.20
1.3
1.3
—
—
nmol/l
—
0
0
11
33
3.38
3.20
5.2
18.5
105.5
105.4
mmol/l
0.05
11
26
8
15
5.39
3.20
2.1
2.4
0.1
0.1
e9/l
—
8
15
7
11
6.42
3.19
1.1
1.0
—
—
—
0
0
196
1565
1.37
3.18
5.1
3.5
38.0
65.9
e6/l
0.89
131
986
75
498
1.58
3.17
4.4
4.0
59.3
103.7
mg/l
1.16
67
376
151
1161
1.40
3.07
2.5
2.3
—
—
—
0
0
76
514
1.55
2.98
5.0
4.8
7.9
14.7
mg/mmol
1.20
69
392
11
35
3.18
2.94
1.5
1.2
329.3
339.8
pmol/l
—
6
30
124
929
1.42
2.92
2.9
2.8
129.0
113.1
ug/g
0.20
96
728
89
626
1.49
2.91
1.6
1.3
19.1
18.0
nmol/l
0.34
78
547
20
89
2.29
2.89
4.2
4.2
—
—
—
0
0
6
9
6.72
2.87
1.0
1.3
—
—
—
0
0
8
18
4.49
2.80
1.4
1.4
—
—
—
0
0
63
415
1.58
2.78
2.2
2.1
2.4
2.4
mmol/l
1.57
54
342
37
212
1.79
2.73
8.7
11.7
-0.1
0.3
mmol/l
0.17
26
168
12
43
2.83
2.66
2.1
5.3
—
—
—
0
0
70
480
1.52
2.59
1.3
1.2
123.6
142.7
iu/ml
0.17
23
174
533
5018
1.44
2.58
11.1
7.4
—
—
—
0
0
131
1012
1.37
2.57
1.8
1.6
—
—
—
0
0
18
81
2.26
2.56
4.2
3.9
1.4
2.0
mmol/l
0.66
13
39
18
81
2.26
2.56
4.2
3.9
5.3
4.8
kpa
2.42
18
81
18
81
2.26
2.56
4.2
3.3
9.8
9.5
kpa
0.40
18
81
60
399
1.56
2.55
4.4
2.9
10.9
10.2
g/l
0.91
54
368
67
459
1.52
2.50
2.1
2.0
—
—
—
0
0
81
578
1.46
2.48
3.6
3.4
316.6
2731.1
umol/l
1.34
76
529
136
1065
1.35
2.44
2.5
2.4
54.9
54.3
u/l
0.08
127
980
70
488
1.49
2.41
9.4
9.6
—
—
—
0
0
6
12
5.04
2.40
5.8
7.8
—
—
—
0
0
9
27
3.37
2.40
1.2
1.3
—
—
—
0
0
8
22
3.67
2.37
2.1
1.5
36.3
32.1
pg
—
8
22
15
65
2.34
2.33
1.4
1.2
—
—
—
0
0
140
1110
1.34
2.31
2.4
2.5
2.8
2.6
mg/l
0.70
114
959
67
469
1.48
2.27
4.3
4.6
5.1
7.2
umol/l
0.87
59
374
529
4999
1.39
2.27
13.6
10.1
39.6
40.6
%
2.79
446
4258
36
218
1.69
2.24
3.5
5.9
21.1
22.0
s
0.93
31
202
68
480
1.47
2.21
1.3
1.5
452.5
32692737.0
pmol/l
0.80
60
416
8
24
3.36
2.18
1.1
1.2
—
—
nmol/l
—
0
0
6
14
4.32
2.15
3.0
3.1
184.3
176.5
ug/g
—
6
14
6
14
4.32
2.15
4.5
7.5
14.1
24.1
ug/l
—
6
14
5
10
5.03
2.07
1.4
1.1
2506.0
2912.5
ml
—
5
10
7
20
3.53
2.06
2.1
1.6
24.5
1.2
nmol/l
—
7
15
29
171
1.73
2.00
9.7
11.1
123.5
126.6
g/l
0.31
29
161
20
105
1.93
1.97
5.0
3.7
3.5
3.6
e9/l
0.12
20
105
18
91
2.01
1.97
4.2
3.6
7.4
7.4
ph
0.21
18
81
70
509
1.42
1.97
2.0
1.5
—
—
—
0
0
21
113
1.89
1.94
13.0
15.8
—
—
—
0
0
18
92
1.99
1.92
1.3
1.1
—
—
—
0
0
326
2928
1.24
1.91
5.4
3.7
17.0
403.1
e6/l
—
5
23
22
121
1.85
1.90
1.2
3.0
490.1
447.0
mg/l
0.13
22
113
14
65
2.18
1.89
1.1
2.0
8.5
8.4
mg/l
0.03
14
60
7
22
3.21
1.88
3.3
4.8
162.7
157.7
ug/l
—
7
22
25
144
1.77
1.88
6.3
2.7
201.5
119.9
ng/l
0.37
20
126
21
115
1.86
1.85
1.4
1.5
—
—
—
0
0
20
108
1.88
1.83
5.1
3.9
51.8
53.6
%
0.22
20
108
43
289
1.52
1.80
1.4
1.2
—
—
—
0
0
82
623
1.36
1.80
1.6
1.5
—
—
—
0
0
497
4696
1.29
1.79
14.3
11.2
333.7
334.7
g/l
1.36
492
4639
54
384
1.44
1.73
1.6
1.9
—
—
—
0
0
8
32
2.52
1.60
1.1
1.2
—
—
—
0
0
7
26
2.71
1.58
1.1
1.2
—
—
—
0
0
31
200
1.58
1.57
1.9
1.7
—
—
—
0
0
13
64
2.05
1.55
2.4
2.7
—
41.8
—
0
5
18
100
1.82
1.54
3.9
11.9
25.0
23.5
mmol/l
0.76
18
90
8
33
2.44
1.54
3.9
4.7
—
—
—
0
0
27
171
1.61
1.48
4.5
4.9
133.4
133.5
g/l
0.01
27
165
18
102
1.79
1.46
3.7
9.1
—
—
—
0
0
9
38
2.39
1.46
1.3
1.0
—
—
—
0
0
9
38
2.39
1.46
8.4
1.8
98.7
75.4
mmol/l
—
9
33
9
39
2.33
1.43
1.3
1.1
—
—
—
0
0
15
81
1.87
1.41
1.4
1.2
3.2
4.4
u/ml
—
6
45
142
1206
1.23
1.35
3.2
2.3
—
—
—
0
0
10
47
2.15
1.34
4.5
2.0
297.9
296.6
mosm/kgh2o
—
10
41
42
303
1.41
1.29
1.6
1.5
—
—
—
0
0
17
99
1.74
1.28
1.2
1.1
—
—
—
0
0
41
295
1.42
1.28
8.8
8.6
1.6
1.3
mmol/l
0.91
34
279
6
25
2.41
1.24
1.5
1.8
—
—
—
0
0
282
2570
1.18
1.24
3.9
2.9
61.5
56.2
ug/l
0.29
258
2412
12
63
1.92
1.23
1.2
1.7
—
—
—
0
0
25
165
1.54
1.19
1.4
1.2
—
—
—
0
0
30
207
1.47
1.17
1.4
1.4
—
—
—
0
0
8
39
2.06
1.15
4.0
4.3
—
—
—
0
0
66
523
1.29
1.14
3.2
2.9
177.9
1133.6
ng/l
1.87
29
239
18
111
1.64
1.13
1.3
3.0
3.9
3.5
mmol/l
0.74
18
104
7
30
2.35
1.12
1.6
1.7
—
—
—
0
0
17
104
1.65
1.10
1.4
3.2
—
—
—
0
0
27
185
1.48
1.10
5.4
5.9
0.3
0.3
g/l
0.26
20
128
103
866
1.23
1.09
2.9
2.3
47.2
44.3
ng/l
0.03
46
323
30
211
1.44
1.08
1.2
1.1
—
—
—
0
0
28
195
1.46
1.06
2.0
1.7
90.2
104.0
u/ml
—
5
22
9
47
1.93
1.02
2.8
3.7
0.9
1.9
%
—
9
35
50
389
1.31
1.00
1.2
1.3
—
—
—
0
0
356
3343
1.15
0.98
3.0
2.4
1.2
1.1
mmol/l
1.19
339
3160
5
23
2.18
0.98
1.0
1.1
—
—
—
0
0
20
132
1.53
0.98
1.7
1.5
—
—
—
0
0
79
654
1.24
0.97
3.1
2.4
—
—
—
0
0
329
3074
1.15
0.97
5.3
3.8
—
—
—
0
0
16
101
1.60
0.94
3.7
3.3
—
—
—
0
0
233
2129
1.15
0.94
2.7
2.2
—
—
—
0
0
10
55
1.83
0.92
2.4
2.1
—
—
—
0
0
6
28
2.15
0.91
10.7
2.0
22.6
31.2
mmol/l
—
6
28
10
56
1.80
0.88
3.1
2.9
1.8
1.8
umol/l
—
10
56
21
298
0.69
0.87
1.0
1.1
—
—
—
0
0
6
30
2.01
0.87
1.5
1.9
—
—
—
0
0
36
274
1.33
0.86
1.8
1.5
180.2
187.7
u/ml
0.10
22
145
8
47
1.71
0.81
9.8
25.4
2120.5
1369.6
nmol/l
—
8
47
10
58
1.74
0.80
2.4
1.2
—
—
—
0
0
17
115
1.49
0.77
1.1
1.1
—
—
—
0
0
7
38
1.85
0.73
1.0
1.1
—
—
—
0
0
209
1925
1.13
0.73
4.4
4.1
—
—
—
0
0
142
1275
1.15
0.73
3.6
2.5
—
—
—
0
0
10
60
1.68
0.72
1.9
1.3
57.9
36.2
nmol/l
—
10
55
95
829
1.17
0.71
2.5
2.9
1.0
1.0
mg/l
0.11
63
539
374
3568
1.12
0.71
3.3
2.6
2.7
2.7
mmol/l
0.08
354
3341
66
558
1.20
0.70
1.6
1.5
—
—
—
0
0
9
58
1.56
0.70
1.7
4.8
—
—
—
0
0
25
187
1.35
0.69
1.6
1.6
—
—
—
0
0
7
42
1.67
0.68
1.0
1.0
—
—
—
0
0
5
28
1.79
0.66
2.2
2.3
107.8
106.4
mmol/l
—
5
28
5
28
1.79
0.66
2.2
2.3
4.0
3.9
mmol/l
—
5
28
370
3537
1.11
0.65
3.2
2.6
1.4
1.4
mmol/l
0.36
350
3343
373
3571
1.11
0.63
3.3
2.6
4.5
4.5
mmol/l
0.03
353
3382
91
800
1.16
0.63
1.7
1.6
1.4
1.3
mmol/l
0.88
83
720
128
1156
1.14
0.61
5.9
4.4
—
—
—
0
0
45
374
1.22
0.58
1.6
1.6
1061.3
1094.9
nmol/l
0.10
40
288
56
655
0.84
0.58
1.3
1.2
—
—
—
0
0
189
1760
1.11
0.54
3.8
2.9
—
—
—
0
0
13
91
1.44
0.53
2.2
1.9
—
—
—
0
0
234
2205
1.10
0.52
4.1
3.1
0.0
0.0
estimate
0.00
56
463
6
40
1.50
0.51
7.2
9.8
14.0
12.1
%
—
6
40
6
40
1.50
0.51
1.0
1.1
257.0
304.0
mg/l
—
6
35
46
390
1.19
0.50
3.2
2.3
29.5
157.1
u/l
0.51
39
326
21
162
1.31
0.50
1.0
1.2
—
—
—
0
0
43
363
1.20
0.50
1.2
1.1
—
—
—
0
0
7
46
1.53
0.48
1.1
1.3
—
—
—
0
0
15
111
1.36
0.47
2.5
2.0
—
—
—
0
0
14
103
1.37
0.45
1.9
1.5
0.3
0.5
ug/l
—
7
35
9
128
0.70
0.43
1.0
1.2
—
—
—
0
0
5
32
1.57
0.42
1.2
1.2
—
—
—
0
0
126
1165
1.10
0.42
4.5
3.1
0.0
0.0
estimate
0.80
56
462
33
277
1.20
0.42
3.7
2.0
4.5
4.1
e9/l
0.43
27
250
230
2187
1.08
0.41
4.2
3.0
0.0
0.0
estimate
0.00
55
452
8
59
1.36
0.41
2.3
1.7
—
—
—
0
0
8
59
1.36
0.41
2.3
1.7
—
—
—
0
0
8
59
1.36
0.41
2.3
1.7
—
—
—
0
0
8
59
1.36
0.41
2.3
1.7
—
—
—
0
0
31
368
0.83
0.41
1.2
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.0
—
—
—
0
0
7
104
0.67
0.39
2.4
2.5
—
—
—
0
0
60
536
1.13
0.37
1.9
3.0
—
—
—
0
0
50
441
1.15
0.37
1.5
1.3
—
—
—
0
0
183
1732
1.08
0.37
2.0
1.8
—
—
—
0
0
229
2188
1.07
0.36
5.8
4.2
0.0
0.0
estimate
0.00
56
476
29
247
1.18
0.33
2.2
2.2
—
—
—
0
0
6
88
0.68
0.33
3.8
6.3
—
—
—
0
0
6
47
1.28
0.32
1.8
1.1
—
—
—
0
0
7
96
0.73
0.31
1.1
1.3
—
—
—
0
0
7
53
1.32
0.31
1.0
1.2
—
—
—
0
0
28
240
1.17
0.30
2.6
3.1
3.9
6.4
umol/l
1.48
19
190
109
1019
1.08
0.30
3.6
2.9
1.0
1.0
kg/l
1.48
21
138
41
363
1.14
0.30
1.7
2.8
—
—
—
0
0
7
55
1.28
0.30
2.0
2.8
—
—
—
0
0
7
55
1.28
0.30
1.0
1.4
—
—
—
0
0
17
139
1.23
0.29
14.6
12.6
96.3
95.0
%
1.77
17
139
17
139
1.23
0.29
14.6
12.6
0.5
0.7
%
1.13
17
139
133
1257
1.07
0.28
1.9
1.7
—
—
—
0
0
72
780
0.91
0.28
1.5
2.0
—
—
—
0
0
50
452
1.12
0.27
3.5
3.3
—
—
—
0
0
30
262
1.15
0.27
1.2
1.1
—
—
—
0
0
15
122
1.24
0.27
1.9
2.5
0.8
0.6
nmol/l
0.72
15
99
17
141
1.21
0.26
1.4
1.8
21.8
48.3
u/ml
1.13
17
136
14
114
1.23
0.25
1.3
1.1
173.0
225.0
iu/ml
—
5
46
74
794
0.92
0.24
1.6
2.1
—
—
—
0
0
69
741
0.92
0.23
1.5
2.1
—
—
—
0
0
168
1613
1.06
0.23
1.9
1.8
—
—
—
0
0
74
792
0.93
0.23
1.6
2.1
—
—
—
0
0
5
39
1.28
0.23
1.6
1.7
—
—
—
0
0
234
2268
1.05
0.22
2.4
2.2
—
—
—
0
0
5
40
1.25
0.22
3.8
3.7
21.4
25.3
umol/l
—
5
40
0
11
0.00
0.21
0.0
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
6.6
—
0
10
0
10
0.00
0.21
0.0
3.0
—
—
—
0
0
8
105
0.76
0.21
2.1
1.9
—
—
—
0
0
17
198
0.85
0.21
1.1
1.1
7.7
6.8
u/ml
0.09
11
98
0
13
0.00
0.21
0.0
3.9
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
74
787
0.93
0.20
1.6
2.1
—
—
—
0
0
11
90
1.23
0.19
1.5
5.6
—
—
—
0
0
6
52
1.16
0.19
1.3
1.2
—
—
—
0
0
16
137
1.17
0.19
1.6
2.0
3.4
5.4
iu/l
—
5
56
20
175
1.15
0.18
2.1
1.6
—
—
—
0
0
8
69
1.16
0.16
1.3
1.1
—
—
—
0
0
18
158
1.14
0.16
1.5
1.3
—
9.5
—
0
7
16
139
1.16
0.16
1.1
1.1
—
—
—
0
0
35
380
0.92
0.16
1.5
1.2
—
—
—
0
0
24
266
0.90
0.16
1.8
1.5
—
—
—
0
0
9
83
1.09
0.14
7.1
6.3
—
—
—
0
0
7
89
0.78
0.14
1.0
1.1
—
—
—
0
0
9
106
0.85
0.13
1.7
1.6
—
—
—
0
0
16
179
0.89
0.12
1.6
1.7
—
—
—
0
0
31
288
1.08
0.12
1.1
1.1
9.7
8.9
u/ml
0.07
19
202
30
322
0.93
0.11
1.1
1.2
8.4
3.0
u/ml
0.45
16
169
61
638
0.95
0.11
1.2
1.2
13.6
17.0
iu/ml
0.40
15
155
106
1028
1.04
0.10
4.0
3.1
—
—
—
0
0
53
506
1.05
0.10
1.8
2.0
—
—
—
0
0
135
1317
1.03
0.10
1.6
1.6
—
—
—
0
0
66
636
1.04
0.09
1.5
2.2
—
—
—
0
0
6
55
1.09
0.09
1.7
3.0
—
—
—
0
0
38
361
1.06
0.08
1.3
1.4
217.6
253.7
miu/ml
0.25
21
187
181
1841
0.98
0.08
1.7
1.8
—
—
—
0
0
58
601
0.96
0.08
1.2
1.2
18.1
7.6
u/ml
0.26
16
214
133
1357
0.97
0.07
2.1
1.8
—
—
—
0
0
35
333
1.05
0.07
1.6
1.5
—
—
—
0
0
35
333
1.05
0.07
1.6
1.5
—
—
—
0
0
7
81
0.86
0.07
1.9
1.8
—
—
—
0
0
22
234
0.94
0.06
5.1
3.3
—
—
—
0
0
15
138
1.09
0.06
8.3
2.3
0.2
0.2
e6/l
0.18
15
130
17
160
1.06
0.04
3.3
1.6
0.2
0.2
g/l
0.24
17
151
35
339
1.03
0.03
1.7
1.5
—
—
—
0
0
17
161
1.06
0.03
3.3
1.6
1.1
1.2
g/l
0.44
17
151
14
148
0.94
0.02
1.1
1.1
—
—
—
0
0
14
148
0.94
0.02
1.1
1.1
—
—
—
0
0
21
204
1.03
0.00
1.2
1.3
—
—
—
0
0
65
656
0.99
0.00
1.5
1.5
283.6
540.6
titre
1.00
11
97
16
156
1.03
0.00
2.3
2.5
—
—
—
0
0
27
275
0.98
0.00
1.0
1.2
13.7
3.9
u/ml
—
6
79
29
285
1.02
0.00
1.3
1.2
—
46.1
—
0
11
18
177
1.02
0.00
1.1
1.1
18.6
8.9
u/ml
—
7
97
15
148
1.01
0.00
1.3
1.2
—
1.6
—
0
6
15
152
0.99
0.00
1.4
1.1
—
—
—
0
0
67
666
1.01
0.00
3.0
2.4
6664.5
5789.1
u/l
0.11
28
251
6
63
0.95
0.00
1.0
1.1
—
—
—
0
0
7
71
0.99
0.00
6.4
6.5
76.6
67.0
%
—
7
71
0
8
0.00
0.00
0.0
2.3
—
—
—
0
0
6
69
0.87
0.00
1.3
4.6
1.5
1.5
mmol/l
—
6
69
0
6
0.00
0.00
0.0
1.0
—
3.8
—
0
6
6
65
0.92
0.00
3.3
1.7
0.5
1.0
ug/l
—
6
55
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
49
1.02
0.00
1.8
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
2.4
—
—
—
0
0
28
280
1.00
0.00
1.1
1.2
2.9
1.4
u/ml
0.59
18
169
0
5
0.00
0.00
0.0
1.6
—
43.6
—
0
5
23
230
1.00
0.00
4.9
4.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
5
57
0.88
0.00
1.0
5.2
3.9
3.8
mmol/l
—
5
52
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
8
81
0.99
0.00
1.5
1.3
33.4
44.5
pmol/l
—
8
76
0
6
0.00
0.00
0.0
1.2
—
19.8
—
0
6
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
13.8
—
0
5
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
17.0
—
0
5
0
5
0.00
0.00
0.0
2.4
—
0.5
—
0
5
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
14.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint E4_DISPUB and mortality.

Females

Parameter HR [95% CI] p-value
E4_DISPUB 2.342 [1.77, 3.1] < 0.001
Birth year 0.993 [0.98, 1.0] 0.105

During the follow-up period (1.1.1998 — 31.12.2019), 167 out of 5264 females with E4_DISPUB died.

Males

Parameter HR [95% CI] p-value
E4_DISPUB 2.384 [1.66, 3.42] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 143 out of 6399 males with E4_DISPUB died.

Mortality risk

Mortality risk for people of age

years, who have E4_DISPUB.

N-year risk Females Males
1 0.252% 0.451%
5 1.399% 2.825%
10 3.368% 6.764%
15 6.23% 12.543%
20 10.628% 20.128%

Relationships between endpoints

Index endpoint: E4_DISPUB – Disorders of puberty

GWS hits: 2

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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