Disorders of puberty

E4_DISPUB

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
  • Cause of death: ICD-10 E30

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

525

4. Check minimum number of events

None

525

5. Include endpoints

560

6. Filter based on genotype QC (FinnGen only)

524

Control definitions (FinnGen only)

Control exclude E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E20-E35
Name in latin Perturbationes pubertatis non alibi classificatae

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 13514 6222 7284
Only index persons 12248 5115 7133
Unadjusted period prevalence (%)
Whole population 0.19 0.18 0.20
Only index persons 0.24 0.19 0.27
Median age at first event (years)
Whole population 12.30 9.31 14.85
Only index persons 12.72 9.74 14.86

-FinnGen-

Key figures

All Female Male
Number of individuals 524 322 202
Unadjusted period prevalence (%) 0.12 0.13 0.10
Median age at first event (years) 12.91 11.63 14.95

-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_DISPUB and mortality.

Females

Parameter HR [95% CI] p-value
E4_DISPUB 2.342 [1.77, 3.1] < 0.001
Birth year 0.993 [0.98, 1.0] 0.105

During the follow-up period (1.1.1998 — 31.12.2019), 167 out of 5264 females with E4_DISPUB died.

Males

Parameter HR [95% CI] p-value
E4_DISPUB 2.384 [1.66, 3.42] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 143 out of 6399 males with E4_DISPUB died.

Mortality risk

Mortality risk for people of age

years, who have E4_DISPUB.

N-year risk Females Males
1 0.252% 0.451%
5 1.399% 2.825%
10 3.368% 6.764%
15 6.23% 12.543%
20 10.628% 20.128%

Relationships between endpoints

Index endpoint: E4_DISPUB – Disorders of puberty

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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