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. |
146 |
4. Check minimum number of eventsNone |
146 |
5. Include endpointsNone |
146 |
6. Filter based on genotype QC (FinnGen only) |
146 |
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 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 | 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 | 146 | 114 | 32 |
| Unadjusted period prevalence (%) | 0.03 | 0.04 | 0.01 |
| Median age at first event (years) | 10.56 | 9.26 | 15.21 |
-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
- 133
- Matched controls
- 1330
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
84.7
72
*
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
74.0
64
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
28.4
28.7
39
19
E30.09
ICD-10 Finland
Delayed puberty NOS
+∞
18.1
17
*
E30.1
ICD-10 Finland
Precocious puberty
+∞
14.9
14
*
E34.35
ICD-10 Finland
Abnormal growth retardation
+∞
12.7
12
*
L02AE02
ATC
leuprorelin; implant, parenteral
33.5
11.9
15
5
E22.80
ICD-10 Finland
Central precocious puberty
119.0
10.6
11
*
E30.00
ICD-10 Finland
Familial delayed puberty
107.3
9.5
10
*
H03AA01
ATC
levothyroxine sodium; systemic
4.1
9.3
39
121
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
5.5
8.7
26
56
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
6.2
8.6
23
43
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
8.4
8
*
H01AC01
ATC
somatropin; parenteral
+∞
8.4
8
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
18.7
8.2
12
7
104
Kela drug reimbursment
Thyroid insufficiency
8.5
7.6
16
21
F82
ICD-10 Finland
Specific developmental disorder of motor function
17.0
7.4
11
7
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
7.4
7
*
121
Kela drug reimbursment
Severe hypofunction of sexual glands
28.1
6.3
8
*
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
+∞
6.3
6
*
E23.00
ICD-10 Finland
Panhypopituitarism
+∞
6.3
6
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.8
6.2
46
212
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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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