Delayed puberty

E4_DELPUB

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:

  • Hospital discharge: ICD-10 E30.00, E30.09
  • Hospital discharge: ICD-9 2590
  • Cause of death: ICD-10 E30.00, E30.09
  • Cause of death: ICD-9 2590

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

293

4. Check minimum number of events

None

293

5. Include endpoints

None

293

6. Filter based on genotype QC (FinnGen only)

282

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 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 282 121 161
Unadjusted period prevalence (%) 0.07 0.05 0.08
Median age at first event (years) 14.74 14.39 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

Mortality – FinRegistry

Association

Association between endpoint E4_DELPUB and mortality.

Females

No data

Males

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: 1

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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