Acromegaly and pituitary gigantism

E4_ACROMEG

hyperpituitarism: Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.

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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 — E22.0 Hospital discharge: ICD-9 — 2530 Hospital discharge: ICD-8 — 2530 Hospital discharge: excluded ICD-8 — 25301 Cause of death: ICD-10 — E22.0 Cause of death: ICD-9 — 2530 Cause of death: ICD-8 — 2530 Cause of death: excluded ICD-8 — 25301 2 out of 7 registries used, show all original rules.	245
4. Check minimum number of events None	245
5. Include endpoints None	245
6. Filter based on genotype QC (FinnGen only)	245

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: E22
Name in latin: Acromegalia

NAME	E4_ACROMEG
CONTROL_EXCLUDE	E4_ENDOGLAND
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E220
HD_ICD_9	2530
HD_ICD_8	2530
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL	25301
COD_MAINONLY
COD_ICD_10	E220
COD_ICD_9	2530
COD_ICD_8	2530
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL	25301
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 Acromegaly and pituitary gigantism based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

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	1586	866	703
Only index persons	1180	661	519
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.02
Only index persons	0.02	0.02	0.02
Median age at first event (years)
Whole population	48.81	49.54	47.84
Only index persons	45.67	45.99	45.26

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	245	149	96
Unadjusted period prevalence (%)	0.05	0.05	0.04
Median age at first event (years)	45.16	43.33	47.99

-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
222: Matched controls
2219

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E22.0

ICD-10 Finland

Acromegaly and pituitary gigantism

+∞

263.0

197

D35.2

ICD-10 Finland

Benign neoplasm: Pituitary gland

1541.3

152.4

131

AAE10

NOMESCO Finland

Transsphenoidal total or partial excision of intracranial lesion

+∞

125.2

108

H02AB09

ATC

hydrocortisone; systemic

262.0

105.8

101

AA4CG

NOMESCO Finland

Extensive MRI examination of sella turcica with high intensity magnet

1210.8

86.7

H01CB02

ATC

octreotide; parenteral

+∞

46.5

101

Kela drug reimbursment

Anterior pituitary hypofunction

+∞

42.0

E23.00

ICD-10 Finland

Panhypopituitarism

+∞

39.8

H01CB03

ATC

lanreotide; parenteral

220.7

37.0

ZXC86

NOMESCO Finland

Use of endoscopic device

137.7

33.7

N04BC06

ATC

cabergoline; oral (dopamine agonists)

192.7

32.7

2530A

ICD-9 Finland

Disorders of the pituitary gland and its hypothalamic control, Acromegaly and gigantism[ACROMEGALIA]

+∞

32.1

E22.1

ICD-10 Finland

Hyperprolactinaemia

+∞

27.7

UJF32

NOMESCO Finland

Coloscopy

5.0

25.1

102

321

G02CB01

ATC

bromocriptine; systemic

32.5

23.9

25300

ICD-8 Finland

Diseases of pituitary gland, Aeromegalia

+∞

22.3

AA4CM

NOMESCO Finland

Extensive MRI examination of sella turcica with 3 Tesla magnet

+∞

21.2

E22.9

ICD-10 Finland

Hyperfunction of pituitary gland, unspecified

+∞

21.2

H03AA01

ATC

levothyroxine sodium; systemic

4.2

19.2

322

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

4.8

18.0

187

102

Kela drug reimbursment

Diabetes insipidus

+∞

16.9

H01BA02

ATC

desmopressin; nasal, systemic, sublingual

26.9

16.4

2542

FHL

Transasal hypophysectomy

+∞

14.7

G03BA03

ATC

testosterone; systemic, rectal, sublingual, transdermal

8.5

14.6

Z03.80

ICD-10 Finland

Observation for other suspected diseases and conditions

12.6

14.2

E21.09

ICD-10 Finland

Other primary hyperparathyroidism

+∞

13.7

E34.9

ICD-10 Finland

Endocrine disorder, unspecified

+∞

13.7

AA4BG

NOMESCO Finland

MRI examination of sella turcica with high intensity magnet

148.7

13.6

2273A

ICD-9 Finland

Benign neoplasm of other endocrine glands and related structures, Pituitary gland and craniopharyngeal duct (pouch)

148.7

13.6

WX408

NOMESCO Finland

General anesthesy, balanced

3.2

13.4

382

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

6.0

13.0

G47.3

ICD-10 Finland

Sleep apnoea

3.4

13.0

276

ZXC95

NOMESCO Finland

Use of surgical navigator

20.3

11.8

AA4DG

NOMESCO Finland

Very extensive MRI examination of sella turcica with high intensity magnet

+∞

11.6

ZXE20

NOMESCO Finland

More than three and less than five hours

3.7

10.8

160

N04BC01

ATC

bromocriptine; oral

115.2

10.5

D44.3

ICD-10 Finland

Neoplasm of uncertain or unknown behaviour: Pituitary gland

115.2

10.5

M14.5*E22.0

ICD-10 Finland

Arthropathy associated with acromegaly

+∞

10.5

T99

ICPC

Endocr/metab/nutrit disease other

16.5

9.2

D352, E220

ICD-10 Finland

+∞

8.4

H01AX01

ATC

pegvisomant; parenteral

+∞

8.4

WX105

NOMESCO Finland

Surface analgesia on skin or mucosa

3.5

8.3

126

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

7.7

8.1

K57.3

ICD-10 Finland

Diverticular disease of large intestine without perforation or abscess

3.0

8.1

190

XCK00

NOMESCO Finland

Perimetry

4.4

7.9

D12.2

ICD-10 Finland

Benign neoplasm: Ascending colon

7.2

7.8

T73

ICPC

Neoplasm endocrine other/unspecified

82.7

7.5

E23.09

ICD-10 Finland

Pituitary insufficiency NOS

+∞

7.3

ZXE10

NOMESCO Finland

More than one and less than three hours

2.2

7.2

583

AA1AD

NOMESCO Finland

CT of head and brain

2.5

7.0

305

Z01.0

ICD-10 Finland

Examination of eyes and vision

2.7

6.9

208

121

Kela drug reimbursment

Severe hypofunction of sexual glands

11.5

6.9

WX402

NOMESCO Finland

General anaesthesia

2.6

6.6

243

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

2.3

6.5

364

R06.5

ICD-10 Finland

Mouth breathing

3.5

6.5

E21.0

ICD-10 Finland

Primary hyperparathyroidism

71.8

6.5

E21.3

ICD-10 Finland

Hyperparathyroidism, unspecified

71.8

6.5

UJF30

NOMESCO Finland

Ileoscopy through colon

3.3

6.3

104

E87.1

ICD-10 Finland

Hypo-osmolality and hyponatraemia

5.7

6.3

105

Kela drug reimbursment

Adrenal cortical hypofunction

+∞

6.3

E22

ICD-10 Finland

Hyperfunction of pituitary gland

+∞

6.3

E220, D352

ICD-10 Finland

+∞

6.3

E89.30

ICD-10 Finland

Postprocedural hypopituitarism

+∞

6.3

Mortality – FinRegistry

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Association

Association between endpoint E4_ACROMEG and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_ACROMEG	1.68 [1.25, 2.25]	< 0.001
Birth year	0.996 [0.99, 1.0]	0.335

During the follow-up period (1.1.1998 — 31.12.2019), 66 out of 432 females with E4_ACROMEG died.

Males

Parameter	HR [95% CI]	p-value
E4_ACROMEG	1.62 [1.24, 2.12]	< 0.001
Birth year	0.99 [0.98, 1.0]	0.029

During the follow-up period (1.1.1998 — 31.12.2019), 70 out of 350 males with E4_ACROMEG died.

Mortality risk

Mortality risk for people of age

years, who have E4_ACROMEG.

N-year risk	Females	Males
1	0.147%	0.274%
5	0.885%	2.148%
10	2.427%	5.483%
15	4.67%	9.864%
20	8.7%	16.301%

Relationships between endpoints

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Index endpoint: E4_ACROMEG – Acromegaly and pituitary gigantism

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

Loading data

Acromegaly and pituitary gigantism

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