Undescended testicle

Q17_UNDES_TESTICLE

cryptorchidism: The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.

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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 Q53
  • Cause of death: ICD-10 Q53

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

367

4. Check minimum number of events

None

367

5. Include endpoints

None

367

6. Filter based on genotype QC (FinnGen only)

337

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q5
Name in latin Retentio testis

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 16828 36 16778
Only index persons 11998 32 11966
Unadjusted period prevalence (%)
Whole population 0.47 0.00 0.47
Only index persons 0.46 0.00 0.46
Median age at first event (years)
Whole population 1.98 16.40 1.90
Only index persons 3.50 19.77 3.46

-FinnGen-

Key figures

All Female Male
Number of individuals 337 - 334
Unadjusted period prevalence (%) 0.17 - 0.17
Median age at first event (years) 7.49 - 7.42

-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

Association

Association between endpoint Q17_UNDES_TESTICLE and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
Q17_UNDES_TESTICLE 1.601 [1.29, 1.99] < 0.001
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 188 out of 14821 males with Q17_UNDES_TESTICLE died.

Mortality risk

Mortality risk for people of age

years, who have Q17_UNDES_TESTICLE.

N-year risk Females Males
1 No data 0.263%
5 No data 1.753%
10 No data 4.631%
15 No data 8.523%
20 No data 14.385%

Relationships between endpoints

Index endpoint: Q17_UNDES_TESTICLE – Undescended testicle

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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