No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
168 |
4. Check minimum number of eventsNone |
168 |
5. Include endpointsNone |
168 |
6. Filter based on genotype QC (FinnGen only) |
144 |
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
Disorders of puberty, other/unspecified
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 prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2778 | 2033 | 744 |
| Only index persons | 2125 | 1439 | 686 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.06 | 0.02 |
| Only index persons | 0.04 | 0.05 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 9.61 | 7.65 | 14.97 |
| Only index persons | 10.35 | 8.12 | 15.01 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 144 | 111 | 33 |
| Unadjusted period prevalence (%) | 0.03 | 0.04 | 0.02 |
| Median age at first event (years) | 10.66 | 9.37 | 15.00 |
-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
↥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
- 152
- Matched controls
- 1520
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
92.4
79
*
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
1482.7
86.5
76
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
19.6
50.6
44
31
E30.09
ICD-10 Finland
Delayed puberty NOS
+∞
19.2
18
*
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
5.9
15.6
32
66
H03AA01
ATC
levothyroxine sodium; systemic
4.4
13.9
44
130
E30.1
ICD-10 Finland
Precocious puberty
55.1
13.1
15
*
L02AE02
ATC
leuprorelin; implant, parenteral
21.0
11.9
17
9
E34.35
ICD-10 Finland
Abnormal growth retardation
70.5
11.8
13
*
E30.00
ICD-10 Finland
Familial delayed puberty
+∞
11.6
11
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
30.6
10.9
14
5
E22.80
ICD-10 Finland
Central precocious puberty
117.8
10.6
11
*
H01AC01
ATC
somatropin; parenteral
+∞
9.5
9
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
9.5
9
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.0
8.7
28
82
G03FB08
ATC
dydrogesterone and estrogen; systemic
16.1
7.9
12
8
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
7.3
7
*
E28.2
ICD-10 Finland
Polycystic ovarian syndrome
31.7
7.2
9
*
104
Kela drug reimbursment
Thyroid insufficiency
6.3
6.3
16
28
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.9
6.3
33
131
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
+∞
6.3
6
*
E23.00
ICD-10 Finland
Panhypopituitarism
+∞
6.3
6
*
F82
ICD-10 Finland
Specific developmental disorder of motor function
9.2
6.2
12
14
E03.89
ICD-10 Finland
Other specified hypothyroidism
7.8
6.1
13
18
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
42
73
7.57
24.77
3.9
1.9
4.93
6.09
u/l
0.36
30
47
43
82
6.92
23.13
3.7
1.9
10.31
14.63
iu/l
0.49
34
58
31
63
5.93
15.29
2.5
1.9
6.32
10.38
nmol/l
1.33
25
55
17
13
14.54
10.45
5.6
1.3
28.44
22.54
nmol/l
0.71
17
13
10
7
15.16
6.49
2.0
2.6
4.60
3.27
nmol/l
—
10
7
24
93
2.88
4.75
2.1
1.5
550.88
336.59
mu/l
0.58
24
88
128
1021
2.61
4.63
7.2
4.0
14.76
14.45
pmol/l
0.72
117
917
46
249
2.22
4.51
1.5
1.5
18.11
19.28
nmol/l
0.22
38
219
62
378
2.08
4.48
1.8
1.6
90.37
92.29
pmol/l
0.14
34
177
33
159
2.37
4.23
3.9
5.0
280.22
857.45
ng/l
1.33
28
129
102
760
2.04
4.09
8.2
6.7
101.42
90.96
u/l
0.72
96
717
101
761
1.98
3.78
4.0
3.2
72.13
54.32
ug/l
0.54
94
721
89
655
1.87
3.45
6.2
6.2
6.08
6.22
mmol/l
0.24
83
592
106
827
1.93
3.40
4.3
3.9
36.03
36.67
mmol/mol
0.31
97
780
24
111
2.38
3.34
4.8
13.7
107.00
105.78
mmol/l
0.28
24
111
108
859
1.89
3.13
3.8
3.0
1.17
1.13
mmol/l
0.22
99
816
101
789
1.83
3.08
15.6
10.2
3.33
3.81
e9/l
2.15
89
669
69
486
1.77
2.95
14.0
10.1
1.22
1.22
mmol/l
0.06
69
462
133
1150
2.25
2.85
8.3
4.8
1.78
1.83
mu/l
0.16
125
1076
10
30
3.49
2.65
1.3
1.2
—
—
—
0
0
10
30
3.49
2.65
1.3
1.2
—
—
—
0
0
113
934
1.82
2.63
3.9
3.4
1.47
1.46
mmol/l
0.12
101
881
114
947
1.82
2.58
4.1
3.5
4.46
4.46
mmol/l
0.02
105
896
113
944
1.77
2.42
4.3
3.6
2.70
2.66
mmol/l
0.24
102
891
8
23
3.61
2.30
1.9
2.3
—
—
—
0
0
114
961
1.75
2.29
4.1
3.2
5.48
5.48
mmol/l
0.01
105
879
54
377
1.67
2.27
5.2
3.4
0.22
0.32
e6/l
0.27
40
268
5
9
5.70
2.23
15.4
5.1
16.33
26.10
ug/l
—
5
9
103
854
1.64
2.11
6.5
4.5
9.94
7.72
mm/h
1.51
96
791
5
10
5.13
2.08
1.0
1.0
—
—
—
0
0
12
51
2.47
2.00
2.4
8.4
0.54
0.59
%
0.22
12
51
7
21
3.44
1.99
2.4
11.0
—
4651.60
—
0
5
42
284
1.66
1.96
3.7
2.7
—
—
—
0
0
19
104
1.95
1.77
4.7
16.4
1.66
1.13
mmol/l
1.31
19
99
5
13
3.94
1.73
2.4
1.2
67.32
42.55
nmol/l
—
5
13
50
365
1.55
1.69
2.6
2.8
3.49
2.45
mg/l
1.83
42
304
6
19
3.24
1.68
1.2
1.2
—
—
—
0
0
7
26
2.77
1.60
3.0
9.5
—
775.00
—
0
5
30
197
1.65
1.56
10.5
8.9
1.17
1.24
mmol/l
1.02
30
184
138
1272
1.92
1.53
18.8
12.1
63.28
64.05
umol/l
0.18
138
1249
6
21
2.93
1.52
2.5
1.8
—
—
—
0
0
138
1279
1.86
1.40
17.9
11.9
17.50
23.11
mg/l
1.82
112
976
132
1210
1.69
1.37
24.0
15.6
331.89
333.43
g/l
1.25
132
1202
34
240
1.54
1.32
3.3
3.3
1.18
0.91
e6/l
0.27
17
128
34
240
1.54
1.32
2.0
3.7
1.19
1.65
mg/l
0.40
23
166
6
24
2.56
1.31
2.5
1.5
—
—
—
0
0
32
223
1.55
1.31
3.0
3.4
12.79
3.85
e6/l
0.34
14
113
28
189
1.59
1.31
13.9
12.7
26.01
24.83
mmol/l
0.97
28
189
106
933
1.45
1.28
12.9
9.4
106.16
102.41
ml/min/173m2
0.89
92
779
6
26
2.36
1.20
2.0
1.2
—
—
—
0
0
51
632
0.71
1.18
2.5
2.1
—
—
—
0
0
7
34
2.11
1.04
1.7
1.2
—
—
—
0
0
7
34
2.11
1.04
4.3
6.0
52.14
55.84
%
—
7
34
7
34
2.11
1.04
1.4
1.2
—
—
—
0
0
24
166
1.53
1.02
9.4
7.4
0.83
0.81
mmol/l
0.31
24
159
8
43
1.91
0.89
2.1
1.6
—
—
—
0
0
41
325
1.36
0.86
6.5
3.3
0.00
0.00
estimate
-0.00
17
126
24
173
1.46
0.85
14.2
6.0
3.06
1.01
mmol/l
1.07
17
131
33
254
1.38
0.83
4.3
3.2
11.22
23.79
ng/l
3.05
18
122
6
32
1.91
0.82
2.5
2.0
—
—
—
0
0
12
74
1.67
0.81
5.4
4.7
—
—
—
0
0
112
1200
0.75
0.79
4.3
4.0
—
—
—
0
0
7
38
1.88
0.74
1.3
1.6
—
—
—
0
0
7
40
1.79
0.72
1.1
1.4
—
—
—
0
0
7
41
1.74
0.71
2.3
1.6
—
—
—
0
0
12
77
1.61
0.71
2.7
8.8
92.75
97.16
%
0.26
12
77
28
220
1.33
0.63
1.5
1.5
—
—
—
0
0
60
524
1.24
0.60
4.0
3.1
—
—
estimate
—
0
0
6
37
1.65
0.56
1.3
1.1
—
—
—
0
0
39
327
1.26
0.55
4.7
2.9
1.02
1.02
kg/l
0.36
30
190
6
38
1.60
0.55
1.3
1.1
—
—
—
0
0
25
309
0.77
0.52
2.3
2.1
—
—
—
0
0
9
65
1.41
0.51
1.7
1.8
—
—
—
0
0
16
120
1.37
0.48
1.8
1.9
—
—
—
0
0
7
49
1.45
0.46
1.1
1.9
—
—
—
0
0
16
122
1.35
0.44
1.7
1.8
—
—
—
0
0
6
92
0.64
0.44
1.3
1.4
—
—
—
0
0
8
56
1.45
0.43
1.0
1.3
—
—
—
0
0
30
353
0.81
0.42
2.8
2.3
—
—
—
0
0
12
88
1.39
0.41
1.4
1.5
1.28
1.30
ratio
—
6
55
12
88
1.39
0.41
1.4
1.5
1.38
1.28
ratio
—
6
55
12
88
1.39
0.41
1.4
1.5
1.07
0.96
ratio
—
6
55
0
17
0.00
0.41
0.0
3.2
—
—
—
0
0
0
17
0.00
0.41
0.0
3.2
—
—
—
0
0
9
70
1.30
0.37
1.2
1.5
—
—
—
0
0
21
172
1.26
0.36
3.5
3.3
43.14
860.47
ng/l
—
7
90
5
77
0.64
0.36
1.8
2.0
—
—
—
0
0
5
80
0.61
0.36
1.2
1.6
—
—
—
0
0
71
655
1.16
0.36
6.3
3.5
0.00
0.00
estimate
-0.00
16
128
43
383
1.17
0.34
2.0
1.8
1.22
1.25
mmol/l
0.12
38
343
11
83
1.35
0.33
1.5
1.5
—
—
—
0
0
11
83
1.35
0.33
1.5
1.5
—
—
—
0
0
6
47
1.29
0.32
2.0
2.0
—
—
—
0
0
70
650
1.14
0.31
6.4
3.4
0.00
0.00
estimate
-0.00
18
128
69
642
1.14
0.30
6.5
3.5
0.00
0.00
estimate
-0.00
18
129
7
57
1.24
0.29
6.1
22.4
0.46
0.64
%
—
7
57
10
127
0.77
0.26
1.4
1.5
—
—
—
0
0
9
75
1.21
0.25
4.1
2.9
—
—
—
0
0
6
81
0.73
0.25
2.3
1.6
135.94
55.33
ug/l
—
6
81
20
172
1.19
0.23
1.3
1.2
39.94
6.63
u/ml
—
7
68
8
101
0.78
0.22
1.9
1.8
—
—
—
0
0
19
164
1.18
0.21
1.7
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
10.40
—
0
10
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
181.08
—
0
13
6
51
1.18
0.19
2.0
1.8
18.00
61.26
u/ml
—
6
51
7
59
1.20
0.18
6.1
21.8
1.20
1.18
%
—
7
59
7
62
1.14
0.17
2.0
2.5
1.24
1.23
mmol/l
—
7
52
5
68
0.73
0.17
1.2
1.1
—
13.93
—
0
13
7
86
0.81
0.15
1.1
1.2
—
7.43
—
0
6
21
189
1.13
0.14
1.5
1.3
20.00
22.31
iu/ml
—
5
39
45
472
0.93
0.11
3.0
2.7
—
—
—
0
0
20
183
1.11
0.10
3.5
2.5
23362.14
6534.84
u/l
—
9
69
56
538
1.06
0.10
1.5
1.8
0.50
2.32
u/ml
1.93
14
107
15
135
1.12
0.10
1.1
1.3
—
—
—
0
0
5
46
1.09
0.09
1.8
1.0
—
—
—
0
0
36
345
1.06
0.07
4.5
2.7
0.21
0.00
estimate
0.47
14
102
47
461
1.03
0.02
6.4
3.1
0.27
0.01
estimate
0.45
15
104
44
446
0.98
0.00
2.5
2.5
—
—
—
0
0
15
154
0.97
0.00
1.1
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
5
49
1.02
0.00
1.0
1.1
—
1.88
—
0
5
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
4.7
—
192.28
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
11.34
—
0
5
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
20.18
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
4.60
—
0
5
0
9
0.00
-0.00
0.0
1.0
—
0.48
—
0
9
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
81.44
—
0
9
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
1.00
—
0
5
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
269.74
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
74
0.94
-0.00
1.9
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
17.33
—
0
7
9
92
0.98
-0.00
2.3
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.8
—
17.16
—
0
5
5
50
1.00
-0.00
2.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_PUBDISNAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PUBDISNAS | 2.209 [1.53, 3.18] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.079 |
During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 1798 females with E4_PUBDISNAS died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have E4_PUBDISNAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.179% | No data |
| 5 | 1.09% | No data |
| 10 | 2.848% | No data |
| 15 | 5.741% | No data |
| 20 | 9.391% | No data |
Relationships between endpoints
↥Index endpoint: E4_PUBDISNAS – Disorders of puberty, other/unspecified
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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