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Precocious puberty

DOID EFO Endpoint Browser PheWeb

E4_PREPUB

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 — E30.1
  • Hospital discharge: ICD-9 — 2591
  • Cause of death: ICD-10 — E30.1
  • Cause of death: ICD-9 — 2591

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

196

4. Check minimum number of events

None

196

5. Include endpoints

None

196

6. Filter based on genotype QC (FinnGen only)

196

Control definitions (FinnGen only)

Control exclude
E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E30
Name in latin
Pubertas praecox

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 3614 2856 755
Only index persons 3025 2327 698
Unadjusted period prevalence (%)
Whole population 0.07 0.08 0.02
Only index persons 0.07 0.09 0.03
Median age at first event (years)
Whole population 9.48 8.97 11.38
Only index persons 9.57 9.01 11.43

-FinnGen-

Key figures

All Female Male
Number of individuals 196 164 32
Unadjusted period prevalence (%) 0.05 0.06 0.01
Median age at first event (years) 9.50 8.95 12.28

-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)

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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
172
Matched controls
1720
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E30.1
ICD-10 Finland
Precocious puberty
+∞
208.3
155
*
L02AE02
ATC
leuprorelin; implant, parenteral
86.0
36.8
40
6
E22.80
ICD-10 Finland
Central precocious puberty
377.9
32.0
31
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
24.5
30.2
43
23
2591A
ICD-9 Finland
Other endocrine disorders, Precocious sexual development and puberty, not elsewhere classified
+∞
20.2
19
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
19.1
18
*
E27.0
ICD-10 Finland
Other adrenocortical overactivity
64.1
10.8
12
*
L02AE04
ATC
triptorelin; parenteral
+∞
8.4
8
*
E34.45
ICD-10 Finland
Abnormal growth increase
83.5
7.5
8
*
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
7.3
7
*
P05.1
ICD-10 Finland
Small for gestational age
18.9
6.3
9
5
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
6.3
6
*
H01AC01
ATC
somatropin; parenteral
+∞
6.3
6
*

Mortality – FinRegistry

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Association

Association between endpoint E4_PREPUB and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PREPUB.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

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Index endpoint: E4_PREPUB – Precocious 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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