Disorders of puberty, other/unspecified

E4_PUBDISNAS

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

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

133

4. Check minimum number of events

None

133

5. Include endpoints

None

133

6. Filter based on genotype QC (FinnGen only)

124

Control definitions (FinnGen only)

Control exclude E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 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 124 93 31
Unadjusted period prevalence (%) 0.03 0.04 0.02
Median age at first event (years) 11.23 9.83 15.44

-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

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 data

Mortality 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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