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Delayed puberty

DOID EFO Endpoint Browser PheWeb

E4_DELPUB

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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.

252

4. Check minimum number of events

None

252

5. Include endpoints

None

252

6. Filter based on genotype QC (FinnGen only)

242

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

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-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 242 109 133
Unadjusted period prevalence (%) 0.06 0.05 0.07
Median age at first event (years) 14.77 14.48 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

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: E4_DELPUB – Delayed puberty

GWS hits: 1

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