Disorders of puberty

E4_DISPUB

No definition available.

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 Cause of death: ICD-10 — E30 2 out of 7 registries used, show all original rules.	585
4. Check minimum number of events None	585
5. Include endpoints E4_DELPUB E4_PREPUB E4_PUBDISNAS	621
6. Filter based on genotype QC (FinnGen only)	621

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

NAME	E4_DISPUB
CONTROL_EXCLUDE	E4_ENDOGLAND
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	E4_DELPUB\|E4_PREPUB\|E4_PUBDISNAS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E30
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E30
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Disorders of puberty based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-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	621	394	227
Unadjusted period prevalence (%)	0.12	0.13	0.10
Median age at first event (years)	12.18	10.60	14.92

-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

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
560: Matched controls
5601

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E30.1

ICD-10 Finland

Precocious puberty

+∞

173.1

157

E30.09

ICD-10 Finland

Delayed puberty NOS

+∞

170.8

155

E30.00

ICD-10 Finland

Familial delayed puberty

2024.3

161.7

149

NK6MA

NOMESCO Finland

Measurement of bone age from hand and elbow using X-ray

23.8

106.8

157

E30.9

ICD-10 Finland

Disorder of puberty, unspecified

+∞

79.1

E30.8

ICD-10 Finland

Other disorders of puberty

731.2

67.4

G03BA03

ATC

testosterone; systemic, rectal, sublingual, transdermal

36.2

63.0

E34.35

ICD-10 Finland

Abnormal growth retardation

+∞

55.1

E22.80

ICD-10 Finland

Central precocious puberty

426.7

40.6

L02AE02

ATC

leuprorelin; implant, parenteral

34.2

38.6

101

Kela drug reimbursment

Anterior pituitary hypofunction

+∞

35.8

H01AC01

ATC

somatropin; parenteral

330.4

31.1

Z51.80

ICD-10 Finland

Manipulation of puberty development with hormone therapy

+∞

30.5

E34.39

ICD-10 Finland

Short stature, not elsewhere classified

114.3

20.7

2590A

ICD-9 Finland

Other endocrine disorders, Delay in sexual development and puberty, not elsewhere classified

+∞

19.9

2591A

ICD-9 Finland

Other endocrine disorders, Precocious sexual development and puberty, not elsewhere classified

+∞

19.9

E23.01

ICD-10 Finland

Isolated deficiency of growth hormone

+∞

17.8

E27.0

ICD-10 Finland

Other adrenocortical overactivity

+∞

17.8

121

Kela drug reimbursment

Severe hypofunction of sexual glands

43.5

17.4

E23.04

ICD-10 Finland

Hypogonadotropic hypogonadism

153.8

14.5

AA4CG

NOMESCO Finland

Extensive MRI examination of sella turcica with high intensity magnet

28.0

14.4

H03AA01

ATC

levothyroxine sodium; systemic

2.9

13.2

338

N91.0

ICD-10 Finland

Primary amenorrhoea

29.1

13.0

E34.45

ICD-10 Finland

Abnormal growth increase

+∞

12.5

E34.30

ICD-10 Finland

Short stature NOS

+∞

12.5

301

Kela drug reimbursment

Growth hormone

+∞

12.5

R62.8

ICD-10 Finland

Other lack of expected normal physiological development

12.0

12.4

G03FB08

ATC

dydrogesterone and estrogen; systemic (progestogens and estrogens, sequential prep.)

12.2

10.9

G03DB01

ATC

dydrogesterone; oral

3.5

10.6

148

104

Kela drug reimbursment

Thyroid insufficiency

5.5

10.4

E28.2

ICD-10 Finland

Polycystic ovarian syndrome

10.3

10.1

NK6QA

NOMESCO Finland

Measurement of bone density from tow or more locations with X-ray

4.4

10.0

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.0

9.8

141

799

LC2AE

NOMESCO Finland

Ultrasound examination of uterus and parametria

2.9

9.7

223

E03.9

ICD-10 Finland

Hypothyroidism, unspecified

3.3

9.7

154

E30.0

ICD-10 Finland

Delayed puberty

+∞

9.4

E23.00

ICD-10 Finland

Panhypopituitarism

+∞

9.4

F70.0

ICD-10 Finland

Mild mental retardation, With the statement of no, or minimal, impairment of behaviour

9.7

9.3

602

Kela drug reimbursment

Children's severe malnutrition

5.4

8.7

E29.1

ICD-10 Finland

Testicular hypofunction

28.0

8.5

186

Kela drug reimbursment

Growth retardation associated with renal failure (growth hormone)

91.4

8.4

R1260

NOMESCO Finland

Evaluation of communicative skills

8.0

8.4

E28.3

ICD-10 Finland

Primary ovarian failure

+∞

8.4

L02AE04

ATC

triptorelin; parenteral

+∞

8.4

H02AB09

ATC

hydrocortisone; systemic

4.1

8.3

G03CA03

ATC

estradiol; nasal, systemic, rectal, transdermal, vaginal

2.7

8.2

216

R2130

NOMESCO Finland

Counselling and guidance which enhance independent living

2.6

8.2

253

7806A

ICD-9 Finland

General symptoms, Pyrexia of unknown origin

22.4

8.0

RD210

NOMESCO Finland

3.4

7.9

115

T10

ICPC

Growth delay

18.7

7.6

T99

ICPC

Endocr/metab/nutrit disease other

12.1

7.6

XA800

NOMESCO Finland

Neuropsychological investigation

3.2

7.6

124

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

2.3

7.5

315

Z01.0

ICD-10 Finland

Examination of eyes and vision

2.1

7.4

495

E23.02

ICD-10 Finland

Neurosecretory dysfunction of the growth hormone

+∞

7.3

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

2.6

7.1

204

F82

ICD-10 Finland

Specific developmental disorder of motor function

4.7

7.0

N91.1

ICD-10 Finland

Secondary amenorrhoea

4.0

6.9

TPH04

NOMESCO Finland

Cathetrisation of vein

2.1

6.8

435

L04AA01

ATC

[U] ciclosporin; systemic

11.1

6.8

R62.0

ICD-10 Finland

Delayed milestone

4.0

6.8

F83

ICD-10 Finland

Mixed specific developmental disorders

4.0

6.7

WX408

NOMESCO Finland

General anesthesy, balanced

1.8

6.6

133

839

KAC00

NOMESCO Finland

Nephrectomy

70.6

6.4

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

2.0

6.2

441

WX404

NOMESCO Finland

Intravenous generell anesthesy

1.9

6.2

100

586

R4110

NOMESCO Finland

Physiotherapy

1.8

6.1

106

639

RK220

NOMESCO Finland

10.2

6.1

Mortality – FinRegistry

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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

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Index endpoint: E4_DISPUB – Disorders of puberty

GWS hits: 2

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

Loading data

Disorders of puberty

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints