Disorders of puberty

E4_DISPUB

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
  • Cause of death: ICD-10 E30

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

649

4. Check minimum number of events

None

649

5. Include endpoints

689

6. Filter based on genotype QC (FinnGen only)

602

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 602 376 226
Unadjusted period prevalence (%) 0.12 0.13 0.10
Median age at first event (years) 12.38 10.85 14.93

-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
639
Matched controls
6390
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
23.2
228.2
181
107
E30.1
ICD-10 Finland
Precocious puberty
846.8
196.2
183
*
E30.00
ICD-10 Finland
Familial delayed puberty
1179.3
186.3
173
*
E30.09
ICD-10 Finland
Delayed puberty NOS
2409.6
185.9
171
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
38.4
155.7
98
30
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
86.5
81
*
L02AE02
ATC
leuprorelin; implant, parenteral
28.3
83.2
57
22
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
439.4
79.7
78
*
E34.35
ICD-10 Finland
Abnormal growth retardation
144.4
62.1
65
5
E22.80
ICD-10 Finland
Central precocious puberty
457.4
43.7
43
*
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
37.9
36
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
35.8
34
*
H01AC01
ATC
somatropin; parenteral
366.4
35.3
35
*
E34.39
ICD-10 Finland
Short stature, not elsewhere classified
72.9
25.0
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
+∞
18.8
18
*
121
Kela drug reimbursment
Severe hypofunction of sexual glands
21.6
17.4
25
12
AA4CG
NOMESCO Finland
Extensive MRI examination of sella turcica with high intensity magnet
65.1
16.8
19
*
R62.8
ICD-10 Finland
Other lack of expected normal physiological development
7.2
16.6
25
36
E23.04
ICD-10 Finland
Hypogonadotropic hypogonadism
29.4
15.3
20
7
H03AA01
ATC
levothyroxine sodium; systemic
2.5
14.9
103
452
N91.0
ICD-10 Finland
Primary amenorrhoea
17.0
14.9
23
14
301
Kela drug reimbursment
Growth hormone
153.4
14.5
15
*
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
2.7
14.2
80
317
G03FB08
ATC
dydrogesterone and estrogen; systemic
16.2
14.0
22
14
E34.45
ICD-10 Finland
Abnormal growth increase
142.9
13.5
14
*
Z3231
NOMESCO Finland
Registered nurse
2.0
13.5
206
1241
104
Kela drug reimbursment
Thyroid insufficiency
4.5
13.5
33
76
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
3.0
13.1
61
218
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
3.9
13.0
39
105
XW000
NOMESCO Finland
Bone marrow biopsy
5.0
13.0
28
58
G03DB01
ATC
dydrogesterone; oral
3.1
12.5
53
179
E29.1
ICD-10 Finland
Testicular hypofunction
24.9
12.5
17
7
E34.30
ICD-10 Finland
Short stature NOS
132.5
12.5
13
*
602
Kela drug reimbursment
Children's severe malnutrition
4.8
12.2
28
61
H02AB09
ATC
hydrocortisone; systemic
3.8
12.2
38
105
LC2AE
NOMESCO Finland
Ultrasound examination of uterus and parametria
2.6
11.6
73
306
ZXD10
NOMESCO Finland
Scheduled procedure
1.8
10.7
193
1213
186
Kela drug reimbursment
Growth retardation associated with renal failure (growth hormone)
+∞
10.4
10
*
ZXE10
NOMESCO Finland
More than one and less than three hours
1.9
10.3
163
981
T99
ICPC
Endocr/metab/nutrit disease other
13.4
10.2
17
13
E28.2
ICD-10 Finland
Polycystic ovarian syndrome
8.3
9.9
21
26
Z3226
NOMESCO Finland
Physiotherapist
2.0
9.5
124
699
F82
ICD-10 Finland
Specific developmental disorder of motor function
4.5
9.4
23
53
E23.00
ICD-10 Finland
Panhypopituitarism
+∞
9.4
9
*
E23.02
ICD-10 Finland
Neurosecretory dysfunction of the growth hormone
+∞
9.4
9
*
E28.3
ICD-10 Finland
Primary ovarian failure
+∞
9.4
9
*
E30.0
ICD-10 Finland
Delayed puberty
+∞
9.4
9
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.0
9.2
119
668
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
3.9
9.1
27
72
Z01.0
ICD-10 Finland
Examination of eyes and vision
1.9
8.8
115
647
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.4
8.7
59
255
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.0
8.6
105
576
ZY010
NOMESCO Finland
Hospital outpatient
2.2
8.5
74
358
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
2.3
8.4
63
286
L02AE04
ATC
triptorelin; parenteral
+∞
8.3
8
*
Z2445
NOMESCO Finland
Psychologist
2.2
8.3
75
368
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
3.0
8.3
36
124
Z2446
NOMESCO Finland
Social worker
2.1
8.2
86
447
ZX120
NOMESCO Finland
Intravenous
2.5
8.0
50
208
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.1
7.9
80
410
T10
ICPC
Growth delay
11.0
7.8
14
13
XA800
NOMESCO Finland
Neuropsychological investigation
2.6
7.7
44
176
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
6.3
7.6
19
31
A41.9
ICD-10 Finland
Sepsis, unspecified
3.7
7.5
23
63
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.5
7.5
46
190
NG1AA
NOMESCO Finland
Knee X-ray examination without contrast
2.3
7.4
55
249
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
3.6
7.3
24
69
BF10A, ,
NOMESCO Finland
+∞
7.3
7
*
R62.0
ICD-10 Finland
Delayed milestone
3.1
7.1
29
96
ZXE00
NOMESCO Finland
One hour or less
1.6
7.1
216
1539
ZXE03
NOMESCO Finland
Procedure duration 20 to 29 minutes
2.4
7.0
49
215
R1260
NOMESCO Finland
Evaluation of communicative skills
5.9
7.0
18
31
RD210, ,
NOMESCO Finland
2.6
6.9
40
161
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
2.5
6.8
41
168
L04AA01
ATC
[U] ciclosporin
9.5
6.8
13
14
U04
ICPC
Incontinence urine
3.8
6.7
20
54
7806A
ICD-9 Finland
General symptoms, Pyrexia of unknown origin
12.4
6.6
11
9
ZXE05
NOMESCO Finland
Procedure duration 40 to 49 minutes
2.3
6.5
49
223
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.6
6.5
175
1206
SPAT1139
SPAT
Nutrition survey
3.6
6.5
21
60
ZXA00
NOMESCO Finland
Right side
2.0
6.4
77
419
205
Kela drug reimbursment
Chronic hypertension
2.8
6.4
32
119
WX408
NOMESCO Finland
General anesthesy, balanced
1.7
6.4
146
963
E34.31
ICD-10 Finland
Short stature, prenatal disorder
70.5
6.4
7
*
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
2.8
6.3
32
120
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
2.5
6.3
39
162
Z01.1
ICD-10 Finland
Examination of ears and hearing
1.9
6.3
90
520
G03CA03
ATC
estradiol; nasal, systemic, rectal, transdermal, vaginal
2.0
6.2
68
358
ZXE06
NOMESCO Finland
Procedure duration 50 to 59 minutes
2.1
6.2
61
310
C08CA02
ATC
felodipine; oral
4.2
6.1
16
39
KA1MN
NOMESCO Finland
Glomerular filtration rate (GFR) Isotope mesurement
3.7
6.1
19
53
WX404
NOMESCO Finland
Intravenous generell anesthesy
1.7
6.1
110
682
NE1AA
NOMESCO Finland
Pelvis X-ray examination
3.3
6.1
22
68
E03.89
ICD-10 Finland
Other specified hypothyroidism
3.4
6.0
21
63

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
171
322
6.89
91.94
3.3
1.7
4.99
5.97
u/l
0.89
127
226
170
330
6.66
88.45
3.2
1.7
8.40
10.30
iu/l
0.54
129
237
132
396
3.94
38.73
3.7
1.8
7.06
12.64
nmol/l
10.34
124
368
32
21
15.97
19.94
2.2
3.1
4.45
3.11
nmol/l
0.85
32
21
213
1193
2.18
17.80
2.9
2.5
2.37
2.37
mmol/l
0.10
201
1115
36
75
5.03
16.56
1.6
1.6
22.96
20.68
ng/l
0.36
36
75
48
139
3.65
14.43
2.1
1.4
0.36
0.36
nmol/l
0.00
40
111
108
501
2.39
13.83
2.8
2.0
373.76
386.08
nmol/l
0.27
102
468
497
4072
1.99
11.77
5.3
3.9
14.50
14.43
pmol/l
0.31
472
3723
276
1937
1.75
10.50
12.6
8.1
1.21
1.22
mmol/l
0.56
243
1733
254
1757
1.74
10.06
12.7
8.7
1.22
1.22
mmol/l
0.02
242
1658
53
213
2.62
9.13
1.8
1.4
7.85
3.50
ug/l
1.32
45
205
290
2138
1.65
8.71
3.7
2.9
68.74
66.63
nmol/l
0.70
274
2027
281
2077
1.63
8.21
1.6
1.7
1.59
2.49
u/ml
0.57
65
479
222
1553
1.66
8.03
7.4
5.8
37.90
38.50
g/l
0.96
211
1460
86
452
2.04
7.95
1.8
1.4
392.78
323.68
mu/l
0.55
81
400
534
4671
1.87
7.94
6.2
4.6
2.07
1.76
mu/l
1.58
516
4434
154
986
1.74
7.70
4.9
3.4
7.39
7.39
ph
0.17
116
678
21
54
3.99
7.48
1.0
1.0
—
—
—
0
0
150
966
1.72
7.31
4.1
2.7
5.40
8.67
e6/l
2.20
135
847
251
1852
1.59
7.12
1.7
1.6
1.89
1.87
g/l
0.09
139
1105
580
5265
2.10
7.02
15.2
9.9
65.84
66.82
umol/l
0.42
571
5178
93
528
1.89
6.86
3.8
2.7
24.20
23.65
%
0.12
87
494
380
3096
1.56
6.86
8.4
6.0
95.30
84.92
u/l
2.39
360
2913
138
887
1.71
6.72
3.7
2.6
609.51
585.54
mosm/kgh2o
0.48
126
771
573
5204
1.98
6.54
11.4
8.4
28.93
25.89
u/l
1.26
562
5061
124
780
1.73
6.52
1.1
1.3
—
—
—
0
0
102
610
1.80
6.37
15.7
11.6
25.18
24.79
mmol/l
0.57
102
610
20
59
3.47
5.90
3.0
4.5
2.41
2.53
mmol/l
0.09
20
59
328
2641
1.50
5.88
11.2
8.0
3.00
2.90
%
0.21
314
2493
326
2628
1.49
5.77
11.4
8.0
0.63
0.65
%
0.27
312
2492
108
677
1.72
5.71
11.3
7.7
7.37
7.37
ph
0.72
74
447
371
3074
1.49
5.71
12.9
9.7
3.72
3.77
e9/l
0.17
321
2614
546
4935
1.73
5.65
19.5
13.2
13.20
13.04
%
2.48
539
4873
529
4747
1.66
5.55
16.2
9.8
3.90
3.88
mmol/l
0.82
511
4588
343
2808
1.48
5.53
10.9
7.9
0.56
0.53
e9/l
1.78
298
2398
98
604
1.74
5.50
3.7
2.6
2.53
2.53
g/l
0.00
88
555
77
442
1.84
5.48
11.0
5.4
—
—
—
0
0
625
5938
3.40
5.47
22.4
15.6
265.24
263.42
e9/l
0.28
607
5784
322
2608
1.47
5.46
14.1
10.1
0.02
0.00
e9/l
0.52
258
2084
211
1570
1.51
5.45
9.3
6.8
—
—
—
0
0
67
369
1.91
5.42
7.7
5.0
0.11
0.05
%
0.27
19
73
625
5941
3.37
5.41
22.4
15.5
88.03
87.99
fl
0.07
619
5883
250
1929
1.49
5.40
6.6
5.7
10.18
11.30
umol/l
1.23
234
1792
625
5943
3.36
5.36
22.4
15.5
29.48
29.55
pg
0.41
619
5885
625
5943
3.36
5.36
22.4
15.5
4.61
4.64
e12/l
1.05
605
5779
625
5943
3.36
5.36
23.5
16.1
40.36
41.98
%
1.03
619
5882
105
665
1.69
5.34
11.2
7.7
1.46
1.19
mmol/l
0.45
97
558
339
2781
1.47
5.34
10.9
7.8
32.72
32.17
%
0.41
325
2659
528
4751
1.64
5.30
16.3
9.8
139.52
139.53
mmol/l
0.01
512
4607
67
372
1.89
5.29
7.5
4.9
0.57
0.99
%
1.00
21
86
625
5947
3.33
5.27
22.6
15.7
135.00
136.54
g/l
2.04
619
5890
625
5947
3.33
5.27
22.5
15.6
6.73
6.73
e9/l
0.01
606
5781
185
1349
1.52
5.22
4.5
3.2
0.35
0.25
e6/l
0.37
136
945
341
2808
1.46
5.22
10.9
8.0
0.04
0.04
e9/l
0.02
297
2403
104
661
1.68
5.22
3.7
2.5
15.17
14.86
umol/l
0.15
96
620
353
2927
1.46
5.20
10.8
7.8
2.13
2.06
e9/l
0.76
319
2572
89
543
1.74
5.17
10.5
5.0
7.40
7.41
ph
0.15
81
441
40
186
2.23
5.08
1.9
1.5
38.12
37.24
nmol/l
0.06
40
180
17
50
3.47
5.06
2.6
5.5
—
—
—
0
0
135
924
1.58
5.03
1.7
1.4
18.55
18.25
nmol/l
0.09
118
825
172
1245
1.52
4.99
6.7
5.8
1.12
1.09
inr
0.50
151
1051
323
2647
1.45
4.99
11.5
8.0
8.44
8.31
%
0.48
307
2503
329
2711
1.44
4.90
10.9
7.7
52.50
53.53
%
0.84
319
2618
242
1891
1.45
4.76
11.0
8.4
—
—
—
0
0
45
226
2.07
4.73
2.8
3.0
1.23
1.23
mmol/l
0.21
40
194
200
1509
1.47
4.71
5.1
3.2
16.92
103.43
e6/l
1.09
149
1093
313
2570
1.43
4.67
7.2
5.5
6.39
6.14
mmol/l
0.67
292
2305
346
2896
1.42
4.62
12.2
8.3
0.20
0.19
e9/l
0.24
311
2513
126
867
1.56
4.57
5.5
3.8
—
—
—
0
0
18
59
3.11
4.55
3.2
6.0
4.60
6.46
pmol/l
0.92
18
59
94
604
1.65
4.51
11.0
11.1
—
—
—
0
0
12
23
5.30
4.47
1.8
1.5
—
—
—
0
0
9
12
7.59
4.36
1.2
1.0
83.00
65.00
nmol/24h
—
9
12
62
362
1.79
4.20
8.0
4.9
0.06
0.08
%
0.09
16
75
21
80
2.68
4.10
2.3
2.9
43.43
38.85
%
1.02
21
80
15
47
3.24
4.08
4.3
3.2
168.67
69.37
u/ml
—
6
14
205
1594
1.42
4.01
4.2
3.4
31.04
29.15
u/l
0.37
196
1516
12
27
4.51
3.95
1.6
2.4
—
—
—
0
0
28
126
2.28
3.89
2.0
1.5
120.61
222.59
pmol/l
4.18
28
119
61
363
1.75
3.89
7.0
4.5
0.47
0.68
%
0.42
17
86
8
11
7.35
3.87
2.3
1.8
24.88
26.45
%
—
8
11
8
11
7.35
3.87
2.1
1.8
9.00
4.82
%
—
8
11
68
420
1.69
3.80
13.2
10.4
106.04
105.45
mmol/l
0.32
68
420
150
1112
1.46
3.77
3.0
3.1
98.16
107.25
ug/g
0.17
122
890
41
219
1.93
3.68
12.6
6.4
130.61
133.27
g/l
0.34
41
211
19
73
2.65
3.67
22.4
11.8
11.24
12.00
%
0.45
19
73
237
1915
1.38
3.63
6.3
3.8
51.10
62.39
e6/l
0.27
158
1181
75
482
1.63
3.61
4.8
3.0
10.31
10.08
g/l
0.21
69
453
53
310
1.77
3.59
5.5
4.6
66.42
63.03
e9/l
0.25
37
199
124
896
1.48
3.54
3.0
2.4
184.63
207.03
u/l
0.23
119
862
74
478
1.62
3.49
1.6
1.9
—
—
—
0
0
23
100
2.35
3.47
1.4
1.3
296.74
345.92
ug/g
—
10
44
80
530
1.58
3.40
2.1
2.0
2.42
2.40
mmol/l
1.22
69
457
9
18
5.06
3.38
10.1
4.9
16.41
23.61
ug/l
—
9
18
7
11
6.42
3.19
1.1
1.0
—
—
—
0
0
399
3538
1.34
3.16
4.5
3.4
36.66
35.98
mmol/mol
0.64
373
3377
81
550
1.54
3.11
1.4
1.3
136.48
143.88
u/ml
0.07
27
193
187
1490
1.36
3.04
1.9
1.6
94.23
96.34
pmol/l
0.28
99
835
155
1200
1.39
3.01
2.7
2.6
53.90
58.30
u/l
0.50
147
1115
21
94
2.28
2.99
4.4
4.4
—
—
—
0
0
561
5282
1.51
2.93
15.1
10.3
18.70
21.86
mg/l
1.89
446
3952
81
558
1.52
2.91
1.3
1.5
467.85
27869275.35
pmol/l
0.80
71
488
14
52
2.73
2.90
3.7
1.2
81.11
38.08
mu/l
0.60
14
45
8
18
4.49
2.80
2.3
2.2
144.38
119.72
e6/l
—
8
18
79
547
1.51
2.78
5.6
4.5
4.99
6.77
umol/l
0.88
68
442
11
34
3.27
2.73
5.2
18.2
12.64
11.56
mmol/l
0.35
11
27
21
98
2.18
2.73
1.4
1.4
3.08
4.55
u/ml
0.61
12
55
17
73
2.37
2.67
1.4
1.2
—
—
—
0
0
434
3940
1.32
2.67
3.5
2.7
5.48
5.43
mmol/l
0.44
412
3666
11
35
3.18
2.65
5.2
17.7
105.55
105.18
mmol/l
0.11
11
28
44
268
1.69
2.64
3.7
5.9
20.38
21.43
s
1.16
39
251
170
1361
1.34
2.64
2.7
2.7
2.67
2.40
mg/l
0.86
141
1190
165
1317
1.34
2.61
2.7
2.3
—
—
—
0
0
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
5.31
4.80
kpa
2.37
18
81
18
81
2.26
2.56
4.2
3.8
1.40
1.99
mmol/l
0.66
13
39
165
1321
1.34
2.55
4.9
4.2
8.73
9.11
mmol/l
0.37
155
1211
146
1148
1.35
2.54
1.9
1.7
—
—
—
0
0
77
541
1.48
2.54
2.2
2.0
—
—
—
0
0
353
3131
1.28
2.52
4.4
3.4
64.58
56.27
ug/l
0.58
331
2971
10
31
3.26
2.52
2.4
1.8
—
—
—
0
0
93
679
1.43
2.51
4.1
3.4
314.64
313.47
umol/l
0.04
88
636
44
274
1.65
2.45
9.2
14.4
-0.21
0.11
mmol/l
0.14
34
233
98
727
1.41
2.43
1.7
1.5
—
—
—
0
0
82
592
1.44
2.36
2.1
1.5
—
—
—
0
0
22
114
1.96
2.23
19.5
8.6
64.64
65.99
%
0.14
22
114
21
108
1.98
2.17
4.0
3.7
7.40
7.40
ph
0.02
21
108
43
276
1.60
2.15
9.4
14.4
7.43
7.42
ph
0.33
22
114
84
623
1.40
2.10
5.9
5.1
7.22
11.45
mg/mmol
0.78
75
479
10
37
2.73
2.07
1.5
1.3
—
—
nmol/l
—
0
0
33
200
1.69
2.06
13.8
6.9
0.59
0.60
%
0.07
33
200
75
548
1.42
2.04
4.3
2.5
4.07
4.52
e9/l
0.55
68
497
20
104
1.95
2.02
4.9
3.7
3.48
3.62
e9/l
0.11
20
104
8
26
3.10
2.02
2.3
1.4
22.14
0.92
nmol/l
—
8
19
48
322
1.53
2.00
1.5
1.2
—
—
—
0
0
15
70
2.17
1.99
2.3
2.5
—
—
—
0
0
83
622
1.38
1.96
5.4
4.3
53.98
74.89
mg/l
0.62
76
483
5
11
4.57
1.94
1.2
1.1
—
—
—
0
0
8
27
2.99
1.94
2.4
1.4
36.00
32.00
pg
—
8
27
361
3270
1.24
1.94
6.0
3.9
17.17
1840.61
e6/l
—
6
31
26
150
1.76
1.93
2.3
3.1
455.85
437.13
mg/l
0.06
26
143
63
453
1.43
1.88
1.4
1.3
—
—
—
0
0
8
28
2.88
1.86
1.1
1.1
—
—
—
0
0
28
168
1.70
1.83
4.0
3.0
56.20
55.78
%
0.05
28
168
5
12
4.19
1.82
1.6
1.1
2506.00
2885.42
ml
—
5
12
8
29
2.78
1.79
1.1
1.2
—
—
nmol/l
—
0
0
139
1141
1.28
1.76
3.9
2.5
—
—
—
0
0
8
30
2.69
1.73
3.8
6.4
145.75
160.36
ug/l
—
8
30
5
13
3.87
1.72
3.6
1.9
31.80
37.92
umol/l
—
5
13
5
13
3.87
1.72
3.6
2.0
24.60
29.62
umol/l
—
5
13
15
75
2.02
1.71
1.2
1.7
—
—
—
0
0
563
5405
1.35
1.68
12.1
8.1
—
—
—
0
0
26
158
1.67
1.65
12.7
17.7
16.02
16.12
%
0.05
26
148
50
354
1.45
1.64
1.6
1.5
—
—
—
0
0
172
1463
1.24
1.61
3.9
2.4
—
—
—
0
0
34
225
1.54
1.55
2.2
1.8
—
—
—
0
0
101
811
1.29
1.52
4.1
3.0
6.38
3.72
e6/l
0.30
42
383
34
226
1.53
1.52
10.3
14.6
121.74
123.31
g/l
0.15
34
218
33
218
1.54
1.52
8.3
6.4
259.80
320.54
mg/l
0.41
25
152
16
86
1.88
1.51
2.1
2.8
467.36
526.19
e6/l
0.24
11
62
11
51
2.18
1.51
1.2
1.1
—
—
—
0
0
6
21
2.87
1.51
2.0
1.2
0.00
0.00
estimate
—
6
21
26
163
1.62
1.48
6.2
3.0
192.48
124.36
ng/l
0.31
21
143
16
87
1.86
1.47
2.1
2.9
179.00
186.94
e6/l
0.09
11
64
116
954
1.26
1.45
2.5
3.0
0.97
1.19
mg/l
0.52
84
641
75
585
1.32
1.41
3.1
2.0
—
—
—
0
0
11
53
2.09
1.39
7.7
1.7
93.82
77.54
mmol/l
0.58
11
46
18
104
1.75
1.38
3.7
9.2
—
—
—
0
0
9
41
2.21
1.37
1.1
1.2
149.11
118.22
pmol/l
—
9
41
29
191
1.54
1.37
2.7
1.6
0.00
0.00
estimate
-0.00
16
76
21
128
1.66
1.35
2.2
3.3
—
—
—
0
0
19
113
1.70
1.33
3.8
11.3
25.03
23.49
mmol/l
0.86
19
104
14
77
1.84
1.26
2.2
2.9
0.30
0.27
e9/l
—
9
47
22
139
1.60
1.24
1.8
3.1
3.80
3.48
mmol/l
0.71
22
133
8
36
2.24
1.24
9.1
1.8
21.79
32.69
mmol/l
—
8
36
30
206
1.48
1.19
1.7
1.6
—
—
—
0
0
6
26
2.32
1.19
1.2
1.3
—
—
—
0
0
21
133
1.60
1.18
1.0
1.1
—
—
—
0
0
18
110
1.65
1.16
1.3
1.1
—
—
—
0
0
28
191
1.49
1.16
2.3
1.6
—
—
—
0
0
8
40
2.01
1.12
3.9
4.1
1.63
0.83
index
—
8
40
13
73
1.80
1.11
1.3
1.3
—
—
—
0
0
31
218
1.44
1.11
2.3
1.8
125.70
121.97
au/ml
—
10
73
239
2164
1.17
1.10
3.8
2.9
—
—
estimate
—
0
0
5
21
2.39
1.09
1.0
1.4
—
—
—
0
0
432
4098
1.17
1.06
3.9
3.1
2.70
2.71
mmol/l
0.16
409
3922
7
33
2.13
1.06
1.6
1.7
—
—
—
0
0
290
2672
1.16
1.05
4.7
3.3
0.04
0.00
estimate
0.49
70
532
7
34
2.07
1.03
2.1
2.0
—
—
—
0
0
173
1534
1.18
1.03
3.7
2.5
0.10
0.01
estimate
0.67
62
462
10
53
1.90
1.01
1.3
1.1
—
—
—
0
0
288
2661
1.15
0.99
4.7
3.3
0.00
2.80
estimate
0.50
70
538
59
471
1.28
0.98
3.0
2.3
30.42
135.38
u/l
0.50
50
388
7
36
1.95
0.97
1.0
1.1
83.63
218.81
pmol/l
—
7
36
78
645
1.24
0.97
1.7
1.5
—
—
—
0
0
9
50
1.81
0.97
1.3
1.1
—
—
—
0
0
25
174
1.45
0.96
1.4
1.2
—
—
—
0
0
11
62
1.79
0.94
4.6
1.9
297.27
296.42
mosm/kgh2o
0.06
11
48
7
37
1.90
0.94
5.3
1.4
4.65
4.24
mmol/24h
—
7
37
394
3730
1.15
0.93
3.4
2.7
1.20
1.12
mmol/l
1.28
378
3556
242
2217
1.15
0.93
4.3
3.0
6.25
6.31
ph
0.40
127
1129
10
55
1.83
0.92
2.8
3.5
0.80
1.52
%
—
10
49
18
118
1.54
0.91
1.2
1.1
—
—
—
0
0
153
1359
1.17
0.89
4.8
3.2
0.00
0.00
estimate
0.80
68
528
169
1513
1.16
0.89
2.0
1.8
1.31
1.27
mmol/l
0.24
153
1389
117
1018
1.18
0.88
3.0
2.4
37.54
38.63
ng/l
0.01
53
397
41
317
1.31
0.88
2.0
1.6
174.28
184.08
u/ml
0.15
26
165
46
362
1.29
0.87
1.3
1.6
0.25
0.24
mg/l
0.03
15
153
426
4067
1.14
0.85
3.7
3.0
1.44
1.41
mmol/l
0.63
404
3893
20
137
1.47
0.85
1.8
1.5
0.31
0.48
ug/l
—
7
39
31
231
1.36
0.84
5.8
2.3
0.21
0.55
e6/l
0.42
31
218
6
31
1.94
0.84
1.2
1.5
20.28
17.77
mg/l
—
6
24
6
31
1.94
0.84
1.2
1.5
17.82
21.73
mg/l
—
6
24
284
2646
1.13
0.83
4.8
3.2
0.00
0.00
estimate
-0.00
69
554
34
259
1.33
0.81
1.2
1.2
—
—
—
0
0
75
633
1.21
0.79
3.3
3.0
174.29
1035.21
ng/l
2.16
34
294
6
33
1.83
0.79
2.5
3.1
570.17
730.94
u/ml
—
6
33
12
74
1.63
0.78
1.8
1.4
52.53
35.30
nmol/l
0.62
12
69
428
4105
1.13
0.74
3.9
3.1
4.49
4.49
mmol/l
0.01
409
3946
12
76
1.59
0.72
3.0
4.9
—
—
—
0
0
52
429
1.23
0.70
1.2
1.1
—
—
—
0
0
145
1309
1.14
0.68
6.6
4.6
—
—
—
0
0
15
102
1.48
0.68
2.0
2.0
—
—
—
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
1.2
1.1
—
—
—
0
0
5
28
1.79
0.66
2.2
2.4
4.00
3.84
mmol/l
—
5
28
8
49
1.64
0.62
4.0
3.7
14.38
18.15
index
—
8
40
16
113
1.43
0.61
3.7
3.0
7.30
6.16
index
—
10
71
142
1291
1.13
0.61
3.4
3.0
1.02
1.02
kg/l
0.79
90
790
21
157
1.35
0.59
1.7
1.5
—
—
—
0
0
8
52
1.55
0.59
13.4
29.7
1842.75
1316.79
nmol/l
—
8
52
13
89
1.47
0.58
2.5
1.8
—
—
—
0
0
13
89
1.47
0.58
2.5
1.8
—
—
—
0
0
13
89
1.47
0.58
2.5
1.8
—
—
—
0
0
13
89
1.47
0.58
2.5
1.8
—
—
—
0
0
57
664
0.84
0.57
1.3
1.2
—
—
—
0
0
10
65
1.55
0.55
1.5
2.7
0.76
0.74
e9/l
—
10
65
18
133
1.36
0.55
1.2
1.2
173.00
254.28
iu/ml
—
5
48
46
386
1.21
0.55
2.6
1.8
0.00
0.02
estimate
0.50
17
104
201
1877
1.10
0.53
2.0
2.0
—
—
—
0
0
61
528
1.17
0.53
1.5
1.3
—
—
—
0
0
94
841
1.14
0.52
3.1
2.3
—
—
—
0
0
6
40
1.50
0.51
3.8
1.4
—
—
—
0
0
152
1403
1.11
0.51
1.9
1.7
—
—
—
0
0
9
65
1.39
0.50
2.0
1.3
—
—
—
0
0
45
381
1.19
0.50
1.6
1.5
1061.35
1083.60
nmol/l
0.07
40
295
23
180
1.29
0.50
1.4
1.4
—
8.36
—
0
8
7
45
1.56
0.49
1.0
1.1
—
—
—
0
0
356
3425
1.09
0.49
4.1
3.4
33.10
28.17
u/l
1.08
342
3307
7
110
0.63
0.48
1.1
1.3
—
—
—
0
0
24
190
1.27
0.48
4.0
1.7
0.21
0.22
g/l
0.31
24
181
24
191
1.27
0.47
4.0
1.7
1.10
1.18
g/l
0.70
24
181
206
1940
1.09
0.46
4.2
2.9
0.14
0.01
estimate
0.91
63
461
33
275
1.21
0.44
1.2
1.3
—
—
—
0
0
33
275
1.21
0.44
2.7
3.2
3.98
6.74
umol/l
1.51
23
216
7
51
1.38
0.44
1.7
1.4
7.88
3.21
u/ml
—
7
51
21
166
1.27
0.44
1.5
1.2
—
1.62
—
0
6
5
31
1.62
0.43
8.8
10.8
—
—
—
0
0
6
92
0.65
0.42
3.8
6.7
—
—
—
0
0
24
194
1.25
0.42
1.1
1.1
—
—
—
0
0
8
58
1.38
0.41
1.6
1.2
—
—
—
0
0
5
33
1.52
0.41
1.6
2.0
—
—
—
0
0
5
33
1.52
0.41
1.2
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
24
195
1.24
0.41
13.7
16.3
96.50
94.96
%
2.65
24
195
17
132
1.30
0.40
1.6
1.7
7.38
7.45
mmol/l
0.04
17
127
17
132
1.30
0.40
2.5
2.0
—
—
—
0
0
11
80
1.38
0.38
2.7
1.7
4.67
1.54
ug/l
0.31
11
69
205
1945
1.08
0.38
2.1
1.8
—
—
—
0
0
51
577
0.87
0.38
1.3
1.4
3.33
3.26
mmol/l
0.20
31
355
9
67
1.35
0.38
2.0
1.3
—
—
—
0
0
83
755
1.11
0.38
1.7
1.5
520.00
487.71
titre
0.06
14
109
74
669
1.12
0.38
2.1
3.0
—
—
—
0
0
18
143
1.27
0.37
2.0
2.6
0.89
0.58
nmol/l
0.97
18
119
5
37
1.35
0.37
2.0
1.1
1.04
1.06
ratio
—
5
31
23
189
1.23
0.36
14.2
16.8
0.53
0.67
%
1.06
23
189
44
385
1.15
0.36
1.6
1.6
—
—
—
0
0
9
71
1.27
0.36
1.7
3.2
—
—
—
0
0
52
461
1.14
0.36
3.7
3.3
—
—
—
0
0
25
208
1.21
0.35
4.6
1.8
10.29
4.82
iu/ml
—
7
35
13
100
1.31
0.33
1.3
1.2
—
—
—
0
0
71
778
0.90
0.33
1.3
1.3
13.41
19.05
iu/ml
0.81
16
176
6
46
1.31
0.33
1.0
1.1
257.00
295.73
mg/l
—
6
41
7
53
1.32
0.31
2.1
2.7
—
—
—
0
0
29
335
0.86
0.30
1.0
1.1
—
—
—
0
0
37
418
0.88
0.29
1.6
1.2
—
—
—
0
0
13
104
1.26
0.26
1.5
1.9
—
—
—
0
0
93
991
0.93
0.25
1.6
1.6
1093.22
964.21
mu/l
0.58
85
894
43
389
1.11
0.24
1.7
1.6
—
—
—
0
0
17
201
0.84
0.24
1.1
1.1
—
—
—
0
0
17
201
0.84
0.24
1.1
1.1
—
—
—
0
0
261
2533
1.05
0.24
2.6
2.4
—
—
—
0
0
5
42
1.19
0.21
1.8
1.9
—
—
—
0
0
5
42
1.19
0.21
1.4
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
2.1
—
98.08
—
0
13
0
13
0.00
0.21
0.0
1.3
—
6.20
—
0
13
47
432
1.09
0.20
1.4
1.4
218.43
247.81
miu/ml
0.21
24
226
40
366
1.10
0.19
1.1
1.2
7.30
8.33
u/ml
0.15
27
261
10
81
1.24
0.19
7.2
1.5
13.23
12.84
%
—
10
81
23
204
1.13
0.18
1.6
1.7
4.03
8.91
u/ml
—
6
55
68
719
0.94
0.16
1.2
1.2
15.42
6.87
u/ml
0.25
19
264
82
780
1.06
0.16
2.9
2.5
11963.26
6698.25
u/l
0.56
33
295
23
255
0.90
0.15
1.1
1.0
1.45
1.49
g/l
0.38
23
255
86
899
0.95
0.15
1.6
2.2
—
—
—
0
0
82
783
1.05
0.14
1.5
2.2
—
—
—
0
0
92
959
0.95
0.14
1.6
2.2
—
—
—
0
0
92
956
0.96
0.13
1.6
2.2
—
—
—
0
0
27
248
1.09
0.13
1.1
1.1
8.54
9.32
u/ml
0.06
16
142
41
385
1.07
0.12
2.0
2.0
6.40
6.36
ph
0.15
31
244
57
542
1.06
0.12
1.8
2.0
—
—
—
0
0
18
162
1.11
0.12
1.6
1.4
—
—
—
0
0
92
950
0.96
0.10
1.6
2.1
—
—
—
0
0
39
371
1.05
0.08
1.6
1.5
1.22
1.27
mm
0.28
30
285
6
58
1.03
0.08
1.7
1.9
46.00
28.41
mg/l
—
6
37
5
61
0.82
0.08
1.0
1.1
—
—
—
0
0
24
256
0.94
0.08
1.2
1.1
0.90
0.86
g/l
0.40
24
256
6
71
0.84
0.07
1.3
4.8
1.46
1.53
mmol/l
—
6
71
6
73
0.82
0.07
1.5
1.2
5.24
11.39
u/ml
—
6
59
93
954
0.97
0.07
1.6
2.2
—
—
—
0
0
45
432
1.04
0.07
1.8
2.9
—
—
—
0
0
25
265
0.94
0.07
1.8
1.5
—
—
—
0
0
9
87
1.03
0.07
1.4
1.3
39.11
44.67
pmol/l
—
9
82
35
334
1.05
0.07
1.2
1.1
—
—
—
0
0
9
105
0.86
0.06
1.7
1.6
0.50
0.50
e9/l
—
9
105
210
2085
1.01
0.03
1.7
1.8
—
—
—
0
0
37
360
1.03
0.03
1.1
1.2
2.36
1.29
u/ml
0.55
26
219
25
241
1.04
0.02
1.1
1.1
0.03
0.36
u/ml
2.22
12
96
26
269
0.97
0.02
1.1
1.1
5.17
7.21
u/ml
0.38
20
164
15
158
0.95
0.02
1.0
1.2
—
—
—
0
0
17
162
1.05
0.02
1.5
2.1
21.76
44.96
u/ml
1.13
17
157
178
1788
0.99
0.01
2.3
2.0
—
—
—
0
0
11
104
1.06
0.01
1.0
1.1
—
—
—
0
0
18
186
0.97
0.00
1.4
1.1
—
—
—
0
0
40
405
0.99
0.00
1.2
1.2
5.82
3.77
u/ml
0.25
27
256
18
183
0.98
0.00
1.7
2.2
3.10
3.32
iu/l
—
6
88
36
356
1.01
0.00
1.1
1.1
6.62
2.71
u/ml
0.80
23
227
24
239
1.00
0.00
4.7
4.2
7.38
7.31
ph
2.02
17
180
0
6
0.00
0.00
0.0
1.0
—
409.22
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
19.80
—
0
6
5
49
1.02
0.00
1.6
5.3
—
35.29
—
0
7
5
58
0.86
0.00
1.0
5.5
3.90
3.86
mmol/l
—
5
58
0
7
0.00
-0.00
0.0
2.3
—
0.56
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
0.80
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
71
0.99
-0.00
1.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
8
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
2.4
—
2.20
—
0
5
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
43.60
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
13.19
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
60.60
—
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

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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