Disorders of puberty

E4_DISPUB

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
  • Cause of death: ICD-10 E30

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

597

4. Check minimum number of events

None

597

5. Include endpoints

633

6. Filter based on genotype QC (FinnGen only)

594

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 594 373 221
Unadjusted period prevalence (%) 0.12 0.13 0.10
Median age at first event (years) 12.38 10.87 14.94

-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

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
633
Matched controls
6330
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
24.3
230.6
179
101
E30.1
ICD-10 Finland
Precocious puberty
2674.8
198.8
182
*
E30.09
ICD-10 Finland
Delayed puberty NOS
2417.3
186.0
171
*
E30.00
ICD-10 Finland
Familial delayed puberty
2394.8
184.8
170
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
39.3
150.4
94
28
L02AE02
ATC
leuprorelin; implant, parenteral
36.0
88.2
56
17
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
84.3
79
*
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
440.0
79.8
78
*
E34.35
ICD-10 Finland
Abnormal growth retardation
171.5
60.1
62
*
E22.80
ICD-10 Finland
Central precocious puberty
457.7
43.8
43
*
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
36.8
35
*
H01AC01
ATC
somatropin; parenteral
377.9
36.4
36
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
34.7
33
*
E34.39
ICD-10 Finland
Short stature, not elsewhere classified
97.5
25.9
28
*
E27.0
ICD-10 Finland
Other adrenocortical overactivity
124.5
22.7
24
*
2591A
ICD-9 Finland
Other endocrine disorders, Precocious sexual development and puberty, not elsewhere classified
+∞
22.0
21
*
2590A
ICD-9 Finland
Other endocrine disorders, Delay in sexual development and puberty, not elsewhere classified
+∞
19.9
19
*
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
+∞
19.9
19
*
R62.8
ICD-10 Finland
Other lack of expected normal physiological development
7.6
17.5
25
34
AA4CG
NOMESCO Finland
Extensive MRI examination of sella turcica with high intensity magnet
65.2
16.8
19
*
H03AA01
ATC
levothyroxine sodium; systemic
2.6
15.4
102
440
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
2.9
15.3
78
293
121
Kela drug reimbursment
Severe hypofunction of sexual glands
20.7
15.2
22
11
N91.0
ICD-10 Finland
Primary amenorrhoea
17.0
14.9
23
14
301
Kela drug reimbursment
Growth hormone
153.4
14.5
15
*
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
3.2
14.2
59
197
104
Kela drug reimbursment
Thyroid insufficiency
4.7
14.2
33
73
G03FB08
ATC
dydrogesterone and estrogen; systemic
16.2
14.0
22
14
Z3231
NOMESCO Finland
Registered nurse
2.0
13.8
202
1201
E34.30
ICD-10 Finland
Short stature NOS
142.9
13.5
14
*
E34.45
ICD-10 Finland
Abnormal growth increase
142.9
13.5
14
*
E23.04
ICD-10 Finland
Hypogonadotropic hypogonadism
29.0
13.0
17
6
G03DB01
ATC
dydrogesterone; oral
3.1
12.4
53
180
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
3.9
12.0
36
97
H02AB09
ATC
hydrocortisone; systemic
3.8
11.9
37
102
602
Kela drug reimbursment
Children's severe malnutrition
4.7
11.5
27
60
186
Kela drug reimbursment
Growth retardation associated with renal failure (growth hormone)
+∞
11.5
11
*
LC2AE
NOMESCO Finland
Ultrasound examination of uterus and parametria
2.6
11.4
70
289
E28.2
ICD-10 Finland
Polycystic ovarian syndrome
11.4
11.1
20
18
ZXD10
NOMESCO Finland
Scheduled procedure
1.9
10.9
192
1200
XW000
NOMESCO Finland
Bone marrow biopsy
4.6
10.6
25
56
ZXE10
NOMESCO Finland
More than one and less than three hours
1.9
10.4
161
962
Z01.8
ICD-10 Finland
Other specified special examinations
2.0
9.9
115
622
E29.1
ICD-10 Finland
Testicular hypofunction
17.9
9.4
14
8
E23.00
ICD-10 Finland
Panhypopituitarism
+∞
9.4
9
*
E28.3
ICD-10 Finland
Primary ovarian failure
+∞
9.4
9
*
E30.0
ICD-10 Finland
Delayed puberty
+∞
9.4
9
*
E23.02
ICD-10 Finland
Neurosecretory dysfunction of the growth hormone
+∞
9.4
9
*
Z3226
NOMESCO Finland
Physiotherapist
1.9
9.0
120
680
F82
ICD-10 Finland
Specific developmental disorder of motor function
4.3
8.7
22
52
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
3.8
8.7
26
70
ZY010
NOMESCO Finland
Hospital outpatient
2.3
8.7
72
341
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.0
8.6
110
614
G03CA03
ATC
estradiol; nasal, systemic, rectal, transdermal, vaginal
2.3
8.6
66
303
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.5
8.5
56
239
L02AE04
ATC
triptorelin; parenteral
+∞
8.3
8
*
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
3.1
8.3
35
118
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
2.4
8.3
59
261
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.0
8.2
99
541
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.1
8.2
77
384
Z2445
NOMESCO Finland
Psychologist
2.2
8.2
72
350
Z2446
NOMESCO Finland
Social worker
2.1
8.1
82
420
T10
ICPC
Growth delay
11.9
8.1
14
12
T99
ICPC
Endocr/metab/nutrit disease other
11.9
8.1
14
12
ZX120
NOMESCO Finland
Intravenous
2.6
8.0
48
196
NE1AA
NOMESCO Finland
Pelvis X-ray examination
4.0
7.8
22
57
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
2.7
7.7
42
164
XA800
NOMESCO Finland
Neuropsychological investigation
2.7
7.5
41
160
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.6
7.5
42
166
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
6.6
7.5
18
28
E34.31
ICD-10 Finland
Short stature, prenatal disorder
81.0
7.4
8
*
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
3.1
7.3
31
105
E03.89
ICD-10 Finland
Other specified hypothyroidism
3.9
7.3
21
55
BF10A, ,
NOMESCO Finland
+∞
7.3
7
*
A41.9
ICD-10 Finland
Sepsis, unspecified
3.7
7.1
22
61
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.7
7.0
163
1084
ZXE00
NOMESCO Finland
One hour or less
1.6
7.0
213
1517
R1260
NOMESCO Finland
Evaluation of communicative skills
5.9
7.0
18
31
R62.0
ICD-10 Finland
Delayed milestone
3.2
6.9
27
87
ZXE05
NOMESCO Finland
Procedure duration 40 to 49 minutes
2.4
6.9
49
217
L04AA01
ATC
[U] ciclosporin
9.5
6.8
13
14
WX404
NOMESCO Finland
Intravenous generell anesthesy
1.8
6.7
110
664
TPH04
NOMESCO Finland
Cathetrisation of vein
1.9
6.6
93
534
7806A
ICD-9 Finland
General symptoms, Pyrexia of unknown origin
12.4
6.6
11
9
WX408
NOMESCO Finland
General anesthesy, balanced
1.7
6.6
144
942
205
Kela drug reimbursment
Chronic hypertension
2.8
6.5
32
118
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
2.1
6.5
61
304
SPAT1139
SPAT
Nutrition survey
3.6
6.5
21
60
RD210, ,
NOMESCO Finland
2.5
6.5
39
160
Z01.1
ICD-10 Finland
Examination of ears and hearing
1.9
6.4
87
495
ZXE13
NOMESCO Finland
Procedure duration 90 to 119 minutes
2.2
6.4
56
272
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
3.2
6.2
24
77
U04
ICPC
Incontinence urine
3.8
6.1
18
48
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
1.8
6.0
95
565
ZXA00
NOMESCO Finland
Right side
1.9
6.0
75
414
ZXE06
NOMESCO Finland
Procedure duration 50 to 59 minutes
2.1
6.0
59
299
WX702
NOMESCO Finland
Supraglottic ventilation device
2.9
6.0
27
95

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
159
281
7.22
90.92
3.3
1.6
5.01
5.87
u/l
0.70
123
207
152
268
7.15
86.89
3.1
1.6
8.31
9.87
iu/l
0.39
122
196
121
289
4.94
48.44
3.4
1.8
6.91
12.50
nmol/l
8.82
114
266
31
20
16.23
19.45
2.1
3.2
4.47
3.24
nmol/l
0.73
31
20
34
62
5.74
18.08
1.6
1.6
—
—
—
0
0
188
1012
2.22
17.31
2.8
2.3
2.38
2.37
mmol/l
0.29
176
912
464
3648
2.02
13.54
4.6
3.6
14.42
14.40
pmol/l
0.08
434
3303
95
424
2.46
13.23
2.8
2.1
367.59
386.65
nmol/l
0.43
90
396
41
116
3.71
12.75
1.9
1.4
0.32
0.38
nmol/l
0.25
34
96
48
170
2.97
10.46
1.6
1.4
8.60
3.39
ug/l
1.47
41
164
249
1703
1.76
10.37
10.0
7.5
1.21
1.22
mmol/l
0.41
215
1508
251
1744
1.73
9.74
3.3
2.7
69.38
67.31
nmol/l
0.61
236
1634
499
4241
1.83
8.82
5.3
4.0
2.08
2.06
mu/l
0.02
477
3978
227
1578
1.68
8.54
10.1
7.7
1.22
1.22
mmol/l
0.02
214
1482
78
385
2.17
8.50
1.7
1.4
349.92
329.33
mu/l
0.19
73
337
199
1337
1.71
8.49
6.2
5.6
37.83
38.14
g/l
0.37
188
1246
355
2775
1.64
8.34
7.3
5.4
96.36
86.76
u/l
1.89
335
2592
251
1834
1.61
7.54
1.5
1.6
1.82
2.37
u/ml
0.25
54
399
138
869
1.75
7.29
4.5
3.1
7.38
7.40
ph
1.04
36
165
226
1628
1.60
7.11
1.6
1.5
1.88
1.89
g/l
0.02
117
928
540
4819
1.82
6.65
9.7
7.3
27.46
26.15
u/l
0.45
525
4627
22
64
3.53
6.62
3.5
2.6
—
—
—
0
0
130
826
1.72
6.60
3.5
2.6
611.00
591.94
mosm/kgh2o
0.33
116
709
497
4352
1.66
6.35
13.0
8.6
3.90
3.88
mmol/l
0.63
478
4168
19
52
3.74
6.24
1.0
1.0
—
—
—
0
0
496
4349
1.65
6.21
13.2
8.6
139.52
139.50
mmol/l
0.06
479
4182
132
858
1.68
6.14
3.8
2.5
5.05
8.12
e6/l
2.30
117
747
519
4613
1.69
6.06
16.3
11.6
13.70
13.44
%
0.83
511
4526
110
685
1.73
5.97
1.1
1.2
—
—
—
0
0
299
2359
1.51
5.97
10.8
8.7
0.02
0.00
e9/l
0.51
241
1872
294
2321
1.50
5.80
9.6
7.4
0.62
0.64
%
0.40
284
2196
17
47
3.69
5.51
2.8
5.7
—
—
—
0
0
221
1663
1.51
5.41
5.9
5.4
10.15
10.91
umol/l
0.67
208
1527
168
1192
1.56
5.40
4.0
3.2
0.37
0.22
e6/l
0.63
127
881
310
2504
1.47
5.29
9.3
7.3
0.56
0.53
e9/l
1.53
272
2157
71
402
1.86
5.28
9.9
5.4
—
—
—
0
0
300
2409
1.47
5.27
9.6
7.3
2.97
2.89
%
0.17
290
2273
82
486
1.79
5.27
9.4
5.0
7.39
7.41
ph
—
9
29
309
2505
1.46
5.12
9.3
7.3
0.04
0.04
e9/l
0.09
272
2157
339
2799
1.45
5.09
11.0
8.9
3.72
3.75
e9/l
0.09
296
2395
323
2644
1.45
5.06
9.1
7.1
2.10
2.06
e9/l
0.42
294
2339
606
5718
2.40
5.00
18.2
13.1
264.86
262.70
e9/l
0.33
586
5528
24
88
2.80
4.99
1.8
1.5
113.58
217.02
pmol/l
3.04
24
83
172
1246
1.52
4.98
9.2
7.4
—
—
—
0
0
75
441
1.79
4.95
3.9
2.5
25.23
24.26
%
0.18
69
399
606
5721
2.39
4.94
18.3
13.3
40.16
41.35
%
0.80
578
5433
606
5725
2.37
4.86
18.2
13.0
87.84
87.86
fl
0.04
599
5637
606
5726
2.37
4.84
18.1
13.0
29.43
29.50
pg
0.47
599
5639
116
773
1.61
4.83
2.8
2.3
185.82
222.41
u/l
0.37
110
735
111
732
1.63
4.82
4.9
3.7
—
—
—
0
0
606
5727
2.36
4.82
18.2
13.1
4.60
4.64
e12/l
1.02
584
5524
314
2573
1.44
4.81
9.4
7.0
32.54
32.37
%
0.10
304
2447
606
5732
2.34
4.72
18.2
13.1
6.75
6.73
e9/l
0.06
585
5533
606
5733
2.34
4.70
18.4
13.2
134.86
136.34
g/l
1.90
599
5647
298
2427
1.43
4.67
10.1
7.4
8.36
8.10
%
1.10
286
2298
313
2576
1.43
4.61
10.3
7.7
0.19
0.19
e9/l
0.02
283
2252
366
3099
1.43
4.59
5.0
3.7
8.41
7.36
mm/h
1.07
341
2859
307
2523
1.42
4.53
9.1
6.9
52.70
53.36
%
0.43
296
2403
8
8
10.11
4.53
2.1
2.1
9.00
4.25
%
—
8
8
8
8
10.11
4.53
2.1
2.1
—
—
—
0
0
165
1210
1.49
4.45
4.0
3.1
—
—
—
0
0
174
1291
1.48
4.43
4.5
3.1
17.93
115.00
e6/l
1.07
130
961
281
2288
1.41
4.30
5.6
4.9
6.42
6.16
mmol/l
0.60
259
2032
153
1113
1.49
4.28
6.2
5.5
1.04
1.08
inr
1.03
59
387
55
310
1.85
4.18
6.7
4.6
0.47
0.91
%
1.17
19
82
84
539
1.64
4.06
11.8
9.9
25.35
24.78
mmol/l
0.83
84
539
52
291
1.86
4.04
7.0
4.7
0.13
0.07
%
0.27
16
60
536
4935
1.56
3.97
12.6
9.0
18.36
21.57
mg/l
1.75
407
3499
8
11
7.35
3.87
1.3
1.0
74.50
67.36
nmol/24h
—
8
11
14
44
3.23
3.79
3.5
3.0
168.33
79.02
u/ml
—
6
12
400
3503
1.39
3.76
3.1
2.4
5.47
5.43
mmol/l
0.31
376
3222
147
1090
1.45
3.69
4.1
4.1
9.43
9.09
mmol/l
0.27
138
998
18
67
2.74
3.68
2.7
2.6
18.00
17.89
%
0.04
13
37
21
85
2.52
3.66
1.4
1.3
300.55
363.37
ug/g
—
8
36
48
271
1.83
3.65
4.5
4.4
67.75
63.11
e9/l
0.32
33
181
77
498
1.62
3.61
3.7
2.4
2.53
2.56
g/l
0.24
71
453
338
2893
1.36
3.60
4.1
3.1
37.21
36.65
mmol/mol
0.40
319
2720
83
548
1.59
3.58
3.7
2.4
15.21
14.97
umol/l
0.09
77
514
51
296
1.79
3.55
5.9
4.2
0.31
0.72
%
1.23
16
76
285
2383
1.36
3.49
9.7
7.6
—
—
—
0
0
10
23
4.40
3.32
1.5
2.3
—
—
—
0
0
178
1390
1.39
3.31
4.1
3.3
32.95
29.87
u/l
0.54
173
1315
91
625
1.53
3.31
1.5
1.3
19.28
18.05
nmol/l
0.39
80
547
87
592
1.54
3.30
7.1
7.5
1.69
1.41
mmol/l
0.46
79
476
15
54
2.82
3.27
2.9
3.8
2.31
2.45
mmol/l
0.11
15
54
8
15
5.39
3.20
2.1
2.4
0.14
0.12
e9/l
—
8
15
7
11
6.42
3.19
1.1
1.0
—
—
—
0
0
58
362
1.66
3.14
3.7
3.8
0.23
0.23
g/l
0.33
58
345
50
300
1.72
3.13
7.3
4.6
0.00
0.08
%
1.48
14
71
149
1139
1.40
3.13
1.7
1.5
90.20
97.42
pmol/l
1.30
77
625
9
20
4.55
3.12
1.7
1.3
—
—
—
0
0
76
511
1.55
3.05
4.4
4.0
57.04
103.48
mg/l
1.29
70
395
201
1620
1.35
3.04
5.5
3.6
44.09
64.49
e6/l
0.55
134
1026
13
46
2.86
2.93
2.7
5.1
—
—
—
0
0
153
1188
1.38
2.91
2.5
2.3
—
—
—
0
0
11
32
3.48
2.91
5.2
19.1
12.64
11.36
mmol/l
0.43
11
25
77
525
1.53
2.91
4.9
4.6
7.78
14.34
mg/mmol
1.18
70
403
20
89
2.29
2.89
4.2
4.0
—
—
—
0
0
64
419
1.59
2.88
2.2
2.1
2.43
2.40
mmol/l
1.54
55
345
126
949
1.41
2.87
2.8
2.9
127.23
112.41
ug/g
0.19
98
741
11
33
3.37
2.82
5.2
18.5
105.55
105.38
mmol/l
0.05
11
26
8
18
4.49
2.80
11.0
4.9
15.70
24.07
ug/l
—
8
18
71
483
1.53
2.72
1.3
1.2
123.65
144.12
iu/ml
0.19
23
172
10
29
3.49
2.70
1.3
1.2
—
—
nmol/l
—
0
0
82
578
1.48
2.65
3.6
3.4
314.73
2717.15
umol/l
1.34
77
532
8
20
4.04
2.57
2.3
1.5
22.14
0.82
nmol/l
—
8
14
18
81
2.26
2.56
4.2
3.8
5.31
4.80
kpa
2.37
18
81
18
81
2.26
2.56
4.2
3.3
9.84
9.49
kpa
0.36
18
81
18
81
2.26
2.56
4.2
3.8
1.40
1.99
mmol/l
0.66
13
39
132
1022
1.37
2.54
1.8
1.6
—
—
—
0
0
137
1068
1.36
2.53
2.5
2.4
54.66
54.81
u/l
0.02
128
984
70
483
1.51
2.52
1.3
1.5
450.31
32458663.87
pmol/l
0.80
62
419
62
420
1.53
2.43
4.5
2.8
10.76
10.12
g/l
0.77
56
389
16
70
2.32
2.43
2.2
2.6
45.01
36.98
%
1.94
16
70
6
12
5.04
2.40
5.8
7.8
—
—
—
0
0
8
22
3.67
2.37
2.1
1.5
36.25
32.14
pg
—
8
22
143
1133
1.34
2.37
2.4
2.6
2.78
2.55
mg/l
0.63
116
980
68
474
1.49
2.34
2.1
2.0
—
—
—
0
0
37
223
1.70
2.33
8.7
11.9
-0.10
0.30
mmol/l
0.16
26
179
74
526
1.46
2.31
10.4
9.5
—
—
—
0
0
9
28
3.25
2.31
1.2
1.3
—
—
—
0
0
540
5110
1.39
2.23
11.2
7.4
—
—
—
0
0
68
481
1.46
2.19
5.6
4.5
5.11
7.12
umol/l
0.87
60
382
8
24
3.36
2.18
1.1
1.2
—
—
nmol/l
—
0
0
7
19
3.71
2.15
1.9
1.5
—
—
—
0
0
5
10
5.03
2.07
1.4
1.1
2506.00
2912.50
ml
—
5
10
6
15
4.03
2.04
3.0
4.0
184.33
184.07
ug/g
—
6
15
37
232
1.63
2.04
3.6
6.0
21.03
22.11
s
1.15
32
215
18
90
2.03
2.02
4.2
3.6
7.40
7.40
ph
0.14
18
85
9
32
2.84
2.00
1.1
1.2
—
—
—
0
0
333
2987
1.24
1.98
5.4
3.6
17.00
403.13
e6/l
—
5
23
20
105
1.93
1.97
5.0
3.7
3.48
3.61
e9/l
0.10
20
105
83
624
1.38
1.93
1.6
1.5
—
—
—
0
0
90
690
1.35
1.85
3.4
2.9
6.53
3.85
e6/l
0.30
41
368
71
524
1.40
1.84
2.2
1.5
—
—
—
0
0
49
337
1.49
1.84
8.2
8.3
106.45
105.09
mmol/l
0.66
49
337
20
108
1.88
1.83
5.1
3.9
51.75
53.53
%
0.22
20
108
508
4802
1.29
1.82
15.1
11.4
333.80
334.73
g/l
1.34
503
4745
18
94
1.94
1.82
1.3
1.1
—
—
—
0
0
21
116
1.84
1.80
1.4
1.4
—
—
—
0
0
55
391
1.45
1.76
1.6
1.9
—
—
—
0
0
22
125
1.79
1.74
1.2
3.0
490.14
438.05
mg/l
0.16
22
117
29
179
1.65
1.72
9.7
11.4
123.48
125.90
g/l
0.23
29
171
43
294
1.50
1.67
1.4
1.2
—
—
—
0
0
31
197
1.60
1.66
6.8
6.4
0.26
0.34
g/l
0.45
23
138
32
205
1.59
1.66
2.0
1.7
—
—
—
0
0
7
25
2.82
1.65
3.3
5.5
162.71
175.44
ug/l
—
7
25
7
26
2.71
1.58
1.1
1.2
—
—
—
0
0
28
176
1.62
1.57
4.4
6.9
133.50
132.88
g/l
0.06
28
169
16
85
1.91
1.56
1.4
1.3
3.14
4.63
u/ml
—
7
48
25
153
1.66
1.55
6.3
2.9
201.50
125.53
ng/l
0.34
20
134
18
100
1.82
1.54
3.9
11.9
24.98
23.46
mmol/l
0.80
18
91
7
27
2.61
1.52
2.6
1.6
—
—
—
0
0
21
124
1.72
1.49
13.0
15.4
—
—
—
0
0
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
39
2.33
1.43
1.3
1.1
—
—
—
0
0
9
42
2.16
1.34
8.4
1.8
98.67
77.22
mmol/l
—
9
37
32
218
1.49
1.31
1.2
1.1
—
—
—
0
0
42
303
1.41
1.29
1.6
1.5
—
—
—
0
0
10
48
2.10
1.28
4.5
1.9
297.90
296.44
mosm/kgh2o
—
10
41
286
2604
1.18
1.27
4.0
2.9
66.33
56.22
ug/l
0.55
262
2442
12
63
1.92
1.23
1.2
1.7
—
—
—
0
0
8
37
2.18
1.21
3.9
4.3
—
—
—
0
0
17
101
1.70
1.21
1.2
1.1
—
—
—
0
0
144
1243
1.21
1.16
3.6
2.3
—
—
—
0
0
30
208
1.46
1.15
1.4
1.4
—
—
—
0
0
29
200
1.47
1.14
2.1
1.7
90.20
104.05
u/ml
—
5
22
7
30
2.35
1.12
1.6
1.7
—
—
—
0
0
67
536
1.28
1.08
3.1
2.9
172.10
1165.34
ng/l
2.13
30
251
25
170
1.49
1.06
1.4
1.2
—
—
—
0
0
7
33
2.13
1.06
1.6
1.8
—
—
—
0
0
103
869
1.22
1.05
2.9
2.3
47.21
44.54
ng/l
0.03
46
328
360
3374
1.16
1.03
3.1
2.4
1.20
1.13
mmol/l
1.26
342
3190
9
48
1.89
1.00
2.8
3.7
0.89
1.65
%
—
9
43
18
115
1.58
1.00
1.3
3.0
3.90
3.50
mmol/l
0.74
18
108
336
3140
1.15
0.98
5.5
3.7
—
—
—
0
0
5
23
2.18
0.98
1.0
1.1
—
—
—
0
0
20
132
1.53
0.98
1.8
1.5
—
—
—
0
0
17
108
1.59
0.97
1.4
3.2
—
—
—
0
0
7
36
1.95
0.97
1.0
1.1
83.63
225.55
pmol/l
—
7
36
7
37
1.90
0.94
1.0
1.1
—
—
—
0
0
50
393
1.30
0.94
1.2
1.3
—
—
—
0
0
96
815
1.21
0.93
1.7
1.6
1.43
1.27
mmol/l
1.06
87
734
79
660
1.23
0.90
3.1
2.4
—
—
—
0
0
8
44
1.83
0.86
3.9
3.8
—
—
—
0
0
380
3602
1.14
0.85
3.3
2.6
2.73
2.74
mmol/l
0.04
358
3390
234
2151
1.14
0.85
2.7
2.2
—
—
—
0
0
6
31
1.94
0.84
5.0
1.4
4.74
4.22
mmol/24h
—
6
31
10
57
1.77
0.84
2.4
1.2
—
—
—
0
0
37
284
1.32
0.84
1.9
1.5
174.58
185.53
u/ml
0.15
23
146
6
32
1.88
0.82
10.7
1.9
22.55
32.41
mmol/l
—
6
32
8
47
1.71
0.81
9.8
25.4
2127.38
1245.79
nmol/l
—
8
47
376
3571
1.13
0.79
3.2
2.6
1.44
1.42
mmol/l
0.38
354
3388
22
302
0.72
0.77
1.0
1.1
—
—
—
0
0
379
3606
1.13
0.77
3.3
2.6
4.51
4.49
mmol/l
0.11
358
3427
10
59
1.71
0.76
1.9
1.3
57.90
36.80
nmol/l
—
10
53
26
193
1.36
0.74
1.8
1.6
—
—
—
0
0
16
108
1.49
0.74
3.5
3.0
—
—
—
0
0
10
60
1.68
0.72
3.1
3.4
1.75
1.77
umol/l
—
10
60
17
117
1.47
0.72
1.1
1.1
—
—
—
0
0
5
26
1.93
0.70
2.4
2.9
600.40
800.27
u/ml
—
5
26
67
567
1.20
0.70
1.7
1.4
—
—
—
0
0
96
842
1.17
0.67
2.6
3.0
1.01
1.14
mg/l
0.25
64
552
7
43
1.63
0.67
1.7
1.3
7.88
1.78
u/ml
—
7
43
212
1963
1.12
0.67
3.4
2.7
—
—
—
0
0
142
1283
1.14
0.66
3.6
2.5
—
—
—
0
0
5
28
1.79
0.66
2.2
2.4
107.80
106.21
mmol/l
—
5
28
5
28
1.79
0.66
2.2
2.4
4.00
3.84
mmol/l
—
5
28
56
656
0.84
0.59
1.3
1.2
—
—
—
0
0
45
375
1.22
0.57
1.6
1.6
1061.35
1095.71
nmol/l
0.11
40
289
34
276
1.25
0.55
3.6
2.0
4.49
5.05
e9/l
0.31
29
255
44
368
1.21
0.54
1.2
1.1
—
—
—
0
0
9
60
1.51
0.54
1.2
2.5
737.00
728.63
e6/l
—
9
60
202
1886
1.10
0.54
3.8
2.9
5.96
5.94
ph
0.03
25
179
9
62
1.46
0.53
1.7
4.8
—
—
—
0
0
21
161
1.31
0.52
1.0
1.2
—
—
—
0
0
6
40
1.50
0.51
1.0
1.1
257.00
304.00
mg/l
—
6
35
17
127
1.35
0.50
1.9
2.6
0.73
0.53
nmol/l
0.62
17
104
7
106
0.66
0.49
2.4
2.5
—
—
—
0
0
7
47
1.49
0.47
1.0
1.1
—
—
—
0
0
7
47
1.49
0.47
1.4
1.7
—
—
—
0
0
13
94
1.39
0.46
2.2
2.0
—
—
—
0
0
17
129
1.33
0.46
1.5
1.7
7.45
7.46
mmol/l
0.01
17
124
14
103
1.37
0.45
1.9
1.5
0.31
0.46
ug/l
—
7
35
7
50
1.40
0.45
3.0
2.8
33724.43
42670.00
ug/l
—
7
50
236
2243
1.08
0.42
4.2
3.1
0.00
0.00
estimate
-0.00
56
460
46
398
1.17
0.42
3.2
2.3
29.54
154.57
u/l
0.51
39
332
5
33
1.52
0.41
1.2
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.0
—
—
—
0
0
8
61
1.32
0.39
1.0
1.3
—
—
—
0
0
5
36
1.39
0.38
1.8
1.3
—
—
—
0
0
31
365
0.84
0.38
1.2
1.2
—
—
—
0
0
8
116
0.69
0.37
2.5
2.2
—
—
—
0
0
10
135
0.74
0.36
1.0
1.2
—
—
—
0
0
9
71
1.27
0.36
7.8
1.4
13.26
12.79
%
—
9
71
126
1175
1.09
0.36
4.5
3.1
0.00
0.00
estimate
0.80
56
462
233
2228
1.07
0.35
4.2
3.0
0.00
0.00
estimate
-0.00
58
469
184
1746
1.08
0.34
2.0
1.8
—
—
—
0
0
15
118
1.28
0.33
2.5
2.1
—
—
—
0
0
72
788
0.90
0.33
1.5
2.0
—
—
—
0
0
6
90
0.66
0.33
3.8
6.5
—
—
—
0
0
6
47
1.28
0.32
7.2
16.7
13.98
11.93
%
—
6
47
60
542
1.12
0.32
1.9
3.0
—
—
—
0
0
7
97
0.72
0.31
1.1
1.3
—
—
—
0
0
7
53
1.32
0.31
2.0
2.7
—
—
—
0
0
310
3005
1.06
0.30
3.9
3.1
33.54
28.38
u/l
0.97
298
2880
7
54
1.30
0.30
1.9
1.2
—
—
—
0
0
28
241
1.17
0.29
2.6
3.2
3.89
7.25
umol/l
1.68
19
192
7
57
1.23
0.29
1.0
1.2
—
—
—
0
0
74
802
0.91
0.29
1.6
2.1
—
—
—
0
0
50
451
1.12
0.28
3.5
3.2
—
—
—
0
0
69
749
0.91
0.28
1.5
2.2
—
—
—
0
0
29
252
1.16
0.27
2.2
2.2
—
—
—
0
0
74
800
0.92
0.27
1.6
2.1
—
—
—
0
0
231
2226
1.06
0.27
5.9
4.2
0.00
0.00
estimate
-0.00
56
475
41
367
1.13
0.26
1.7
2.9
—
—
—
0
0
134
1273
1.07
0.25
1.9
1.7
—
—
—
0
0
50
455
1.11
0.25
1.5
1.3
—
—
—
0
0
74
795
0.92
0.24
1.6
2.1
—
—
—
0
0
30
265
1.14
0.24
1.2
1.1
—
—
—
0
0
109
1031
1.07
0.23
3.6
2.9
1.02
1.02
kg/l
1.59
21
145
235
2277
1.05
0.23
2.4
2.2
—
—
—
0
0
5
40
1.25
0.22
1.6
1.8
—
—
—
0
0
0
10
0.00
0.21
0.0
3.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
6.55
—
0
10
0
12
0.00
0.21
0.0
2.0
—
—
—
0
0
5
43
1.16
0.21
3.8
4.3
21.40
25.39
umol/l
—
5
43
0
13
0.00
0.21
0.0
3.9
—
—
—
0
0
17
145
1.18
0.20
1.4
2.1
21.76
47.76
u/ml
1.14
17
140
6
49
1.23
0.20
1.8
1.1
—
—
—
0
0
6
49
1.23
0.20
1.7
1.9
—
—
—
0
0
168
1621
1.05
0.19
1.9
1.8
—
—
—
0
0
11
90
1.23
0.19
1.5
6.0
—
—
—
0
0
14
118
1.19
0.19
1.3
1.1
173.00
254.28
iu/ml
—
5
48
141
1355
1.05
0.19
1.6
1.6
—
—
—
0
0
35
381
0.91
0.17
1.5
1.2
—
—
—
0
0
16
139
1.15
0.16
1.6
1.9
3.41
5.36
iu/l
—
5
56
16
139
1.15
0.16
1.1
1.1
—
—
—
0
0
18
203
0.88
0.15
1.1
1.1
7.16
5.98
u/ml
0.13
12
124
9
78
1.16
0.15
1.2
1.2
—
—
—
0
0
17
150
1.14
0.14
14.6
12.8
0.52
0.71
%
1.19
17
150
17
150
1.14
0.14
14.6
12.9
96.29
95.29
%
1.38
17
150
7
90
0.78
0.14
1.0
1.1
—
—
—
0
0
20
179
1.12
0.14
2.2
1.7
—
—
—
0
0
24
264
0.91
0.14
1.8
1.5
—
—
—
0
0
16
180
0.89
0.13
1.6
1.7
—
—
—
0
0
9
106
0.85
0.13
1.7
1.6
—
—
—
0
0
22
201
1.10
0.11
1.2
1.3
—
—
—
0
0
53
504
1.06
0.11
1.8
2.0
—
—
—
0
0
184
1878
0.97
0.10
1.7
1.8
—
—
—
0
0
5
46
1.09
0.09
1.6
5.2
—
39.33
—
0
6
6
56
1.07
0.08
1.7
3.3
—
—
—
0
0
32
302
1.06
0.08
1.1
1.1
9.18
8.39
u/ml
0.08
20
217
62
642
0.96
0.08
1.2
1.2
13.64
16.79
iu/ml
0.37
15
158
38
362
1.05
0.08
1.3
1.4
217.63
253.52
miu/ml
0.25
21
189
18
166
1.09
0.08
1.5
1.3
—
9.53
—
0
7
6
70
0.86
0.07
1.3
4.6
1.46
1.52
mmol/l
—
6
70
32
337
0.95
0.07
1.2
1.2
7.80
4.04
u/ml
0.38
20
218
22
235
0.93
0.07
5.1
3.3
—
—
—
0
0
7
83
0.84
0.07
1.9
1.8
—
—
—
0
0
35
335
1.05
0.06
1.6
1.5
—
—
—
0
0
35
335
1.05
0.06
1.6
1.5
—
—
—
0
0
108
1060
1.02
0.05
4.1
3.1
—
—
—
0
0
16
149
1.08
0.05
1.4
1.2
—
1.62
—
0
6
59
606
0.97
0.05
1.2
1.2
18.11
7.56
u/ml
0.26
16
216
66
644
1.03
0.05
1.5
2.2
—
—
—
0
0
18
170
1.06
0.04
3.9
1.6
0.20
0.22
g/l
0.36
18
161
28
290
0.96
0.03
1.1
1.1
10.76
2.92
u/ml
0.96
16
193
18
171
1.05
0.03
3.9
1.6
1.09
1.19
g/l
0.69
18
161
134
1354
0.99
0.03
2.1
1.8
—
—
—
0
0
35
340
1.03
0.03
1.7
1.5
—
—
—
0
0
68
669
1.02
0.02
1.7
1.5
366.67
538.80
titre
0.52
12
100
16
152
1.05
0.02
4.1
7.6
0.62
0.67
%
0.21
16
152
19
182
1.05
0.02
1.1
1.1
16.76
9.22
u/ml
—
8
100
17
177
0.96
0.01
1.1
1.1
0.05
0.45
u/ml
—
5
72
16
154
1.04
0.00
1.4
1.1
—
—
—
0
0
15
145
1.04
0.00
8.3
2.2
0.22
0.16
e6/l
0.20
15
137
15
154
0.97
0.00
1.1
1.1
—
—
—
0
0
15
154
0.97
0.00
1.1
1.1
—
—
—
0
0
29
295
0.98
0.00
1.3
1.2
—
42.74
—
0
13
29
294
0.99
0.00
1.1
1.1
2.78
1.28
u/ml
0.60
19
186
67
667
1.01
0.00
3.0
2.4
6664.45
5744.56
u/l
0.12
28
252
16
159
1.01
0.00
2.2
2.3
—
—
—
0
0
23
231
1.00
0.00
4.9
4.1
—
—
—
0
0
5
57
0.88
0.00
1.0
5.2
3.90
3.85
mmol/l
—
5
57
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
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
1.6
—
43.60
—
0
5
0
5
0.00
-0.00
0.0
3.0
—
17.02
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
82
0.98
-0.00
1.5
1.3
33.38
44.29
pmol/l
—
8
77
0
9
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
—
—
0
0
7
77
0.91
-0.00
6.4
10.7
76.57
67.75
%
—
7
77
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
6
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
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
3.75
—
0
6
9
90
1.00
-0.00
7.1
9.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
14.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
19.80
—
0
6
6
65
0.92
-0.00
3.3
1.7
0.47
1.01
ug/l
—
6
55
6
64
0.94
-0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
0.52
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
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: 1

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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