No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
321 |
4. Check minimum number of eventsNone |
321 |
5. Include endpointsNone |
321 |
6. Filter based on genotype QC (FinnGen only) |
321 |
Control definitions (FinnGen only)
- Control exclude
- E4_ENDOGLAND
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Delayed puberty
based on the number of shared cases.
Similar with more cases:
- Disorders of puberty
- Disorders of puberty, all
- Disorders of other endocrine glands
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 7828 | 1705 | 6119 |
| Only index persons | 7752 | 1673 | 6079 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.14 | 0.05 | 0.17 |
| Only index persons | 0.20 | 0.06 | 0.23 |
| Median age at first event (years) | |||
| Whole population | 14.73 | 13.87 | 14.97 |
| Only index persons | 14.73 | 13.86 | 14.96 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 321 | 142 | 179 |
| Unadjusted period prevalence (%) | 0.07 | 0.05 | 0.08 |
| Median age at first event (years) | 14.62 | 14.15 | 14.99 |
-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
- 293
- Matched controls
- 2928
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.09
ICD-10 Finland
Delayed puberty NOS
3254.5
179.6
155
*
E30.00
ICD-10 Finland
Familial delayed puberty
1485.8
169.8
149
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
41.3
73.5
92
32
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
65.9
68.6
78
16
E34.35
ICD-10 Finland
Abnormal growth retardation
470.7
42.3
41
*
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
28.6
27
*
H01AC01
ATC
somatropin; parenteral
+∞
22.2
21
*
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
20.0
19
*
2590A
ICD-9 Finland
Other endocrine disorders, Delay in sexual development and puberty, not elsewhere classified
+∞
20.0
19
*
E34.39
ICD-10 Finland
Short stature, not elsewhere classified
95.6
16.8
18
*
E23.04
ICD-10 Finland
Hypogonadotropic hypogonadism
48.8
12.0
14
*
121
Kela drug reimbursment
Severe hypofunction of sexual glands
24.1
11.7
16
7
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
+∞
11.5
11
*
E34.30
ICD-10 Finland
Short stature NOS
+∞
11.5
11
*
R62.8
ICD-10 Finland
Other lack of expected normal physiological development
16.8
10.5
16
10
G03CA03
ATC
estradiol; nasal, systemic, rectal, transdermal, vaginal
5.5
10.2
30
60
N91.0
ICD-10 Finland
Primary amenorrhoea
17.5
10.0
15
9
E30.0
ICD-10 Finland
Delayed puberty
+∞
9.4
9
*
AA4CG
NOMESCO Finland
Extensive MRI examination of sella turcica with high intensity magnet
51.6
8.7
10
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
8.4
8
*
E29.1
ICD-10 Finland
Testicular hypofunction
34.4
8.1
10
*
T10
ICPC
Growth delay
82.1
7.5
8
*
E28.3
ICD-10 Finland
Primary ovarian failure
+∞
7.3
7
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
10.4
7.1
13
13
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
5.3
6.9
20
40
G03FB08
ATC
dydrogesterone and estrogen; systemic (progestogens and estrogens, sequential prep.)
23.1
6.7
9
*
E30.8
ICD-10 Finland
Other disorders of puberty
71.3
6.5
7
*
301
Kela drug reimbursment
Growth hormone
+∞
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
80
103
10.01
61.16
3.1
1.7
8.0
8.1
iu/l
0.01
67
82
85
128
8.67
57.00
3.3
1.7
4.9
5.9
u/l
0.53
72
106
77
184
5.19
31.45
4.0
1.7
7.6
14.7
nmol/l
8.81
70
173
234
1710
2.36
10.62
3.8
3.3
14.5
14.5
pmol/l
0.00
219
1536
136
826
2.12
9.57
1.5
1.5
1.1
1.7
u/ml
0.40
32
198
120
754
1.94
7.25
8.4
7.5
1.2
1.2
mmol/l
0.31
98
657
126
808
1.92
7.15
3.2
2.6
63.9
67.0
nmol/l
0.82
116
753
85
477
2.06
7.05
2.2
2.4
2.4
2.4
mmol/l
0.01
78
434
250
2013
2.09
7.03
4.5
3.8
2.0
2.3
mu/l
0.23
241
1878
109
686
1.89
6.42
8.7
7.5
1.2
1.2
mmol/l
0.01
100
637
36
157
2.46
5.42
7.0
5.1
1.8
1.2
mmol/l
0.52
26
111
278
2439
2.04
4.65
8.8
7.0
28.3
28.7
u/l
0.07
270
2343
94
633
1.69
4.14
5.3
5.5
37.9
38.7
g/l
0.79
88
598
7
7
10.19
4.03
2.6
1.4
2.8
4.2
nmol/l
—
7
7
177
1406
1.58
3.90
7.3
5.8
95.5
82.2
u/l
2.23
169
1314
6
5
12.19
3.77
1.5
2.8
—
—
—
0
0
247
2140
1.67
3.65
11.7
8.3
3.9
3.9
mmol/l
0.68
236
2046
11
32
3.52
3.36
5.0
3.3
79.7
100.9
%
1.32
11
32
33
177
1.96
3.04
10.1
9.1
25.6
25.0
mmol/l
0.38
33
177
9
21
4.38
3.01
1.2
1.2
—
—
—
0
0
244
2145
1.57
3.00
11.8
8.2
139.6
139.6
mmol/l
0.07
236
2059
74
511
1.58
2.86
2.9
3.0
0.2
0.2
e6/l
0.27
56
373
46
281
1.74
2.84
1.5
1.3
18.8
16.7
nmol/l
0.58
39
250
73
512
1.55
2.63
1.6
1.4
88.9
98.8
pmol/l
1.05
36
277
7
15
4.74
2.61
1.3
1.3
—
—
nmol/l
—
0
0
6
11
5.53
2.55
3.3
2.7
133.0
112.7
ug/l
—
6
11
31
174
1.87
2.53
4.3
5.8
176.3
1399.7
ng/l
0.67
24
121
36
214
1.77
2.45
1.2
1.3
169.9
141.8
iu/ml
0.15
13
77
175
1473
1.41
2.42
4.5
3.5
8.1
6.9
mm/h
0.62
160
1364
18
85
2.18
2.33
1.1
1.1
—
11.6
—
0
10
268
2454
1.56
2.28
11.8
8.8
19.2
21.3
mg/l
0.50
203
1703
36
220
1.72
2.24
1.3
1.5
499.8
69035946.2
pmol/l
0.80
31
197
10
36
2.83
2.22
1.0
1.6
—
—
—
0
0
57
393
1.55
2.21
3.1
2.6
235.6
282.8
u/l
0.25
57
379
83
621
1.45
2.17
3.6
3.3
—
—
—
0
0
12
50
2.45
2.05
4.8
4.4
4.0
3.5
e9/l
0.31
12
50
12
51
2.41
1.97
5.1
4.8
53.0
52.6
%
0.03
12
51
20
107
1.93
1.91
1.9
1.6
—
—
—
0
0
38
248
1.60
1.87
5.7
7.1
0.8
0.8
mmol/l
0.45
38
237
157
1340
1.34
1.81
10.3
8.8
3.6
3.9
e9/l
0.86
138
1161
8
29
2.80
1.80
1.3
1.3
—
—
—
0
0
211
1892
1.34
1.67
9.2
6.6
110.3
107.9
ml/min/173m2
1.00
157
1370
6
19
3.20
1.67
5.3
1.5
—
—
—
0
0
273
2554
1.46
1.64
12.6
9.5
40.3
41.5
%
2.22
225
2192
5
14
3.61
1.62
1.8
1.1
—
—
—
0
0
27
170
1.64
1.55
3.5
3.3
0.2
0.2
g/l
0.52
27
158
5
15
3.37
1.53
6.2
1.6
—
—
—
0
0
7
27
2.63
1.52
2.7
2.8
—
—
—
0
0
9
37
2.47
1.49
1.2
1.2
—
—
—
0
0
9
37
2.47
1.49
1.2
1.2
—
—
—
0
0
170
1494
1.29
1.49
3.9
3.0
37.3
36.8
mmol/mol
0.25
161
1419
26
168
1.60
1.36
2.7
1.6
—
—
—
0
0
13
68
1.95
1.35
1.2
1.2
—
—
—
0
0
12
61
2.00
1.34
1.4
1.2
0.3
0.3
ug/l
—
6
17
5
18
2.80
1.29
1.4
1.1
—
—
—
0
0
5
19
2.66
1.22
1.8
1.1
—
—
—
0
0
5
19
2.66
1.22
1.4
1.1
—
—
—
0
0
63
496
1.34
1.21
2.1
2.3
2.7
2.5
mg/l
0.19
50
430
13
223
0.57
1.21
1.6
1.5
—
—
—
0
0
25
167
1.54
1.16
2.7
1.5
—
—
—
0
0
5
20
2.52
1.15
1.4
1.1
—
—
—
0
0
5
20
2.52
1.15
1.8
1.1
—
—
—
0
0
19
120
1.62
1.11
1.8
1.7
—
—
—
0
0
196
1792
1.24
1.09
2.6
2.3
5.4
5.5
mmol/l
0.26
185
1636
132
1160
1.23
1.06
3.0
2.9
72.7
66.1
ug/l
0.18
122
1095
5
22
2.29
1.03
2.8
1.7
—
—
—
0
0
7
35
2.02
1.00
3.0
3.8
7.3
6.5
u/ml
—
7
29
30
406
0.71
0.98
1.6
1.5
—
—
—
0
0
12
197
0.59
0.97
1.6
1.4
—
—
—
0
0
12
197
0.59
0.97
1.6
1.4
—
—
—
0
0
12
197
0.59
0.97
1.6
1.4
—
—
—
0
0
12
197
0.59
0.97
1.6
1.4
—
—
—
0
0
20
133
1.54
0.97
4.3
2.2
—
—
—
0
0
9
52
1.75
0.93
6.1
5.5
368.7
398.4
umol/l
—
9
46
6
28
2.16
0.92
1.2
1.1
—
—
—
0
0
66
545
1.27
0.91
2.7
2.5
57.7
54.4
u/l
0.30
61
506
6
29
2.09
0.89
1.5
3.0
—
—
—
0
0
10
57
1.78
0.84
1.3
1.6
—
—
—
0
0
10
165
0.59
0.84
1.6
2.0
—
—
—
0
0
38
296
1.32
0.81
2.1
2.7
0.2
0.5
e6/l
1.72
14
156
22
156
1.44
0.81
1.1
1.2
12.9
1.7
u/ml
—
10
82
38
297
1.32
0.80
2.1
2.8
3.6
3.0
e6/l
0.12
16
157
15
98
1.56
0.80
2.3
2.4
94.6
94.2
ml/min/173m2
—
5
36
0
27
0.00
0.78
0.0
1.0
—
—
—
0
0
14
91
1.56
0.76
1.6
1.4
—
26.3
—
0
9
31
237
1.34
0.76
1.1
1.0
—
—
—
0
0
19
264
0.70
0.75
1.6
1.4
—
—
—
0
0
5
25
2.02
0.73
6.2
1.4
—
—
—
0
0
36
287
1.29
0.67
3.4
3.3
183.2
1176.2
ng/l
1.11
20
133
7
43
1.64
0.67
5.3
1.8
—
—
—
0
0
7
43
1.64
0.67
4.9
1.7
—
—
—
0
0
27
207
1.33
0.66
2.0
1.8
—
—
—
0
0
5
29
1.74
0.64
1.6
1.3
—
—
—
0
0
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
0
20
0.00
0.60
0.0
1.4
—
—
—
0
0
0
21
0.00
0.60
0.0
2.6
—
89.4
—
0
16
23
297
0.76
0.59
1.5
1.3
—
—
—
0
0
6
36
1.68
0.57
11.2
1.5
13.6
12.7
%
—
6
36
11
74
1.50
0.54
1.2
1.1
—
—
—
0
0
11
74
1.50
0.54
1.1
1.5
—
—
—
0
0
9
62
1.46
0.53
5.7
6.6
—
868.4
—
0
7
10
66
1.53
0.53
1.2
1.7
—
—
—
0
0
117
1072
1.14
0.53
6.3
5.1
6.9
6.2
mmol/l
0.70
102
950
11
75
1.48
0.51
1.2
1.1
—
—
—
0
0
10
67
1.51
0.50
1.1
1.2
—
—
—
0
0
7
50
1.41
0.45
1.4
1.5
—
—
—
0
0
93
1015
0.88
0.44
3.0
2.4
—
—
—
0
0
7
51
1.38
0.44
1.4
2.8
3807.4
59.2
e6/l
—
7
42
5
31
1.62
0.43
1.2
2.8
0.2
0.2
e9/l
—
5
21
5
32
1.57
0.42
1.2
2.8
546.2
491.4
e6/l
—
5
21
51
447
1.17
0.42
2.8
2.2
62.9
15.7
ng/l
0.46
24
156
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
30
252
1.21
0.39
2.8
1.8
—
—
—
0
0
54
599
0.88
0.33
2.7
2.2
—
—
—
0
0
87
938
0.90
0.33
2.8
2.3
—
—
—
0
0
6
46
1.31
0.33
1.3
1.1
—
2.4
—
0
23
37
421
0.86
0.33
3.5
2.8
1.0
1.0
mg/l
0.02
24
274
21
250
0.83
0.31
1.3
1.3
—
—
—
0
0
7
55
1.28
0.30
1.7
3.1
0.8
0.7
nmol/l
—
7
43
13
103
1.27
0.28
1.1
1.4
—
—
—
0
0
50
455
1.12
0.26
1.5
1.7
1.5
1.4
%
0.40
45
422
5
75
0.66
0.26
1.0
2.0
36.0
37.5
u/l
—
5
70
15
123
1.23
0.26
1.7
1.4
—
—
—
0
0
9
73
1.24
0.25
24.7
13.1
0.5
0.7
%
—
9
73
9
77
1.17
0.24
8.8
2.6
0.1
0.1
e6/l
—
9
72
44
400
1.12
0.24
1.5
1.5
—
—
—
0
0
14
168
0.83
0.23
1.6
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
99.5
—
0
12
18
208
0.86
0.20
1.6
1.6
—
—
—
0
0
19
218
0.86
0.20
1.7
2.0
—
—
—
0
0
6
53
1.13
0.19
7.5
8.2
—
4633.4
—
0
5
8
73
1.10
0.16
26.6
13.1
1.1
1.5
%
—
8
73
6
79
0.75
0.15
1.0
1.1
—
—
—
0
0
81
774
1.06
0.15
3.8
2.8
—
—
—
0
0
15
171
0.87
0.15
1.5
1.5
—
—
—
0
0
26
283
0.91
0.13
2.3
2.5
9543.7
4991.7
u/l
—
9
129
17
188
0.90
0.11
1.5
1.7
—
—
—
0
0
5
47
1.06
0.09
1.4
1.1
—
—
—
0
0
113
1104
1.04
0.09
2.1
1.8
—
—
—
0
0
105
1025
1.04
0.08
3.7
2.9
0.0
0.0
estimate
0.00
26
208
10
113
0.88
0.08
1.4
1.2
—
—
—
0
0
16
146
1.10
0.08
2.5
2.2
—
24.1
—
0
15
194
1915
1.03
0.08
3.2
2.6
2.7
2.8
mmol/l
1.33
185
1795
106
1038
1.03
0.07
3.7
2.9
0.0
0.0
estimate
0.00
25
213
10
111
0.90
0.06
1.6
1.4
—
—
—
0
0
45
465
0.96
0.05
2.2
2.4
—
—
—
0
0
15
139
1.08
0.05
2.2
1.5
167.4
185.2
u/ml
—
9
76
182
1802
1.02
0.05
2.9
2.4
1.1
1.2
mmol/l
0.11
176
1711
162
1635
0.98
0.04
3.6
2.8
38.2
30.3
u/l
0.81
157
1574
264
2652
0.97
0.03
4.1
3.8
—
—
—
0
0
51
499
1.03
0.03
2.4
2.0
—
—
—
0
0
104
1030
1.01
0.02
5.1
4.0
0.0
0.0
estimate
0.00
25
223
14
133
1.06
0.01
4.3
4.0
—
—
—
0
0
15
143
1.05
0.01
2.1
1.5
—
—
—
0
0
19
183
1.04
0.01
1.2
1.4
346.8
291.3
miu/ml
—
8
95
193
1922
1.01
0.01
3.2
2.6
4.4
4.5
mmol/l
0.51
186
1818
191
1902
1.01
0.01
3.1
2.5
1.5
1.4
mmol/l
2.43
184
1798
55
543
1.02
0.01
4.4
3.1
0.0
0.0
estimate
0.50
25
215
94
944
0.99
0.00
3.6
4.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
9.1
—
0
7
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
5
58
0.86
0.00
11.8
4.9
49.8
52.4
%
—
5
58
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
12
120
1.00
0.00
1.3
1.7
4.7
2.8
mg/l
—
6
68
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
0.00
0.0
10.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
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
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
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
1.7
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_DELPUB and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_DELPUB | 1.963 [1.44, 2.68] | < 0.001 |
| Birth year | 0.985 [0.98, 1.0] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 74 out of 5417 males with E4_DELPUB died.
Mortality risk
Mortality risk for people of age
years, who have E4_DELPUB.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.338% |
| 5 | No data | 2.166% |
| 10 | No data | 5.179% |
| 15 | No data | 10.013% |
| 20 | No data | 16.731% |
Relationships between endpoints
↥Index endpoint: E4_DELPUB – Delayed 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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