Precocious central puberty

E4_PRECOXCENTPUB

Endpoint definition

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 E22.80, E22.88
  • Hospital discharge: ICD-9 259
  • Cause of death: ICD-10 E22.80, E22.88
  • Cause of death: ICD-9 259

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

239

4. Check minimum number of events

None

239

5. Include endpoints

None

239

6. Filter based on genotype QC (FinnGen only)

239

Control definitions (FinnGen only)

Control exclude
E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF6

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 2852 1930 912
Only index persons 2430 1642 788
Unadjusted period prevalence (%)
Whole population 0.05 0.06 0.03
Only index persons 0.05 0.06 0.03
Median age at first event (years)
Whole population 9.59 8.54 11.31
Only index persons 9.31 8.52 10.97

-FinnGen-

Key figures

All Female Male
Number of individuals 239 165 74
Unadjusted period prevalence (%) 0.05 0.06 0.03
Median age at first event (years) 10.10 8.90 12.76

-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)

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
223
Matched controls
2228
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E22.80
ICD-10 Finland
Central precocious puberty
+∞
102.1
90
*
L02AE02
ATC
leuprorelin; implant, parenteral
62.3
52.4
60
13
2594A
ICD-9 Finland
Other endocrine disorders, Dwarfism, not elsewhere classified
+∞
46.5
43
*
101
Kela drug reimbursment
Anterior pituitary hypofunction
+∞
36.5
34
*
H01AC01
ATC
somatropin; parenteral
+∞
33.1
31
*
E30.1
ICD-10 Finland
Precocious puberty
+∞
32.0
30
*
Z51.80
ICD-10 Finland
Manipulation of puberty development with hormone therapy
+∞
32.0
30
*
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
21.5
27.8
41
23
2590A
ICD-9 Finland
Other endocrine disorders, Delay in sexual development and puberty, not elsewhere classified
+∞
20.1
19
*
2591A
ICD-9 Finland
Other endocrine disorders, Precocious sexual development and puberty, not elsewhere classified
+∞
20.1
19
*
E22.88
ICD-10 Finland
Other hyperfunction of pituitary gland
+∞
20.1
19
*
E23.01
ICD-10 Finland
Isolated deficiency of growth hormone
+∞
15.8
15
*
E23.00
ICD-10 Finland
Panhypopituitarism
+∞
15.8
15
*
L02AE04
ATC
triptorelin; parenteral
+∞
14.7
14
*
E34.39
ICD-10 Finland
Short stature, not elsewhere classified
160.0
14.6
15
*
H02AB09
ATC
hydrocortisone; systemic
11.1
12.8
24
24
AA4CG
NOMESCO Finland
Extensive MRI examination of sella turcica with high intensity magnet
74.2
12.7
14
*
2599X
ICD-9 Finland
Other endocrine disorders, Unspecified endocrine disorder
+∞
12.6
12
*
2592A
ICD-9 Finland
Other endocrine disorders, Carcinoid syndrome
+∞
12.6
12
*
ZXE10
NOMESCO Finland
More than one and less than three hours
3.1
11.7
81
349
E22.1
ICD-10 Finland
Hyperprolactinaemia
+∞
11.6
11
*
E34.35
ICD-10 Finland
Abnormal growth retardation
+∞
10.5
10
*
102
Kela drug reimbursment
Diabetes insipidus
+∞
10.5
10
*
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.7
10.3
35
84
D35.2
ICD-10 Finland
Benign neoplasm: Pituitary gland
57.5
9.7
11
*
E34.31
ICD-10 Finland
Short stature, prenatal disorder
+∞
9.4
9
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.2
8.4
32
86
2598X
ICD-9 Finland
Other endocrine disorders, Other specified endocrine disorders
+∞
8.4
8
*
186
Kela drug reimbursment
Growth retardation associated with renal failure (growth hormone)
+∞
8.4
8
*
7834C
ICD-9 Finland
Symptoms concerning nutrition, metabolism and development, Lack of expected normal physiological development[HÄIRIINTYNYT PITUUSKASVU]
34.7
8.1
10
*
F82
ICD-10 Finland
Specific developmental disorder of motor function
11.4
7.9
14
13
H01BA02
ATC
desmopressin; nasal, systemic, sublingual
7.1
7.8
18
27
H03AA01
ATC
levothyroxine sodium; systemic
3.0
7.7
46
175
WX408
NOMESCO Finland
General anesthesy, balanced
2.5
7.6
67
322
H47.2
ICD-10 Finland
Optic atrophy
26.0
7.6
10
*
301
Kela drug reimbursment
Growth hormone
+∞
7.3
7
*
E30.8
ICD-10 Finland
Other disorders of puberty
+∞
7.3
7
*
G81.1
ICD-10 Finland
Spastic hemiplegia
+∞
7.3
7
*
E34.30
ICD-10 Finland
Short stature NOS
+∞
7.3
7
*
E22.8
ICD-10 Finland
Other hyperfunction of pituitary gland
+∞
7.3
7
*
E30.9
ICD-10 Finland
Disorder of puberty, unspecified
+∞
7.3
7
*
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
8.4
7.2
15
19
L04AA01
ATC
[U] ciclosporin; systemic
31.1
7.2
9
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.1
6.9
39
144
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.8
6.9
22
50
602
Kela drug reimbursment
Children's severe malnutrition
23.3
6.7
9
*
E22.0
ICD-10 Finland
Acromegaly and pituitary gigantism
+∞
6.3
6
*
E34.45
ICD-10 Finland
Abnormal growth increase
+∞
6.3
6
*
TPH04
NOMESCO Finland
Cathetrisation of vein
2.7
6.1
42
176

Mortality – FinRegistry

Association

Association between endpoint E4_PRECOXCENTPUB and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PRECOXCENTPUB.

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

Index endpoint: E4_PRECOXCENTPUB – Precocious central 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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