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Cushing syndrome

MedGen UID:: 3681
•Concept ID:: C0010481
•: Disease or Syndrome

Synonyms:	Adrenal hyperfunction resulting from pituitary acth excess; Cushing's syndrome; Ectopic adrenocorticotropic hormone syndrome; Hyperadrenocorticism; Nodular primary adrenocortical dysplasia
SNOMED CT:	Cushing's syndrome (47270006); Cushing's syndrome III (47270006); Suprarenogenic syndrome (47270006); Itsenko-Cushing syndrome (47270006); Itsenko disease (47270006)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	ARMC5, USP8, AIP, GNAS

Monarch Initiative:	MONDO:0018912
Orphanet:	ORPHA553

Definition

Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of endocrine system
        Endocrine Syndrome
        Cushing syndrome
        ACTH-dependent Cushing syndrome
        Ectopic Cushing syndrome
        Pituitary dependent hypercortisolism
        Recurrent Cushing Disease
        ACTH-independent Cushing syndrome
        Cushing syndrome due to macronodular adrenal hyperplasia
        ACTH-independent macronodular adrenal hyperplasia 1
        ACTH-independent macronodular adrenal hyperplasia 2
        Primary pigmented nodular adrenocortical disease
        Endogenous Cushing syndrome
        Recurrent Endogenous Cushing Syndrome
        Iatrogenic Cushing disease

Professional guidelines

PubMed

Mild autonomous cortisol secretion: pathophysiology, comorbidities and management approaches.

Prete A, Bancos I
Nat Rev Endocrinol 2024 Aug;20(8):460-473. Epub 2024 Apr 22 doi: 10.1038/s41574-024-00984-y. PMID: 38649778

Glucocorticoid Withdrawal Syndrome following treatment of endogenous Cushing Syndrome.

He X, Findling JW, Auchus RJ
Pituitary 2022 Jun;25(3):393-403. Epub 2022 Apr 26 doi: 10.1007/s11102-022-01218-y. PMID: 35471718 Free PMC Article

New perspectives for mitotane treatment of adrenocortical carcinoma.

Puglisi S, Calabrese A, Basile V, Pia A, Reimondo G, Perotti P, Terzolo M
Best Pract Res Clin Endocrinol Metab 2020 May;34(3):101415. Epub 2020 Mar 5 doi: 10.1016/j.beem.2020.101415. PMID: 32179008

See all (91)

Recent clinical studies

Etiology

Pharmacological Treatment of Cushing's Syndrome.

Castinetti F
Arch Med Res 2023 Dec;54(8):102908. Epub 2023 Nov 15 doi: 10.1016/j.arcmed.2023.102908. PMID: 37977919

Perioperative Management of Endocrine Active Adrenal Tumors.

Schreiner F, Anand G, Beuschlein F
Exp Clin Endocrinol Diabetes 2019 Feb;127(2-03):137-146. Epub 2018 Aug 14 doi: 10.1055/a-0654-5251. PMID: 30107625

Diagnosing endocrine hypertension: a practical approach.

Yang J, Shen J, Fuller PJ
Nephrology (Carlton) 2017 Sep;22(9):663-677. doi: 10.1111/nep.13078. PMID: 28556585

Complications of Cushing's syndrome: state of the art.

Pivonello R, Isidori AM, De Martino MC, Newell-Price J, Biller BM, Colao A
Lancet Diabetes Endocrinol 2016 Jul;4(7):611-29. Epub 2016 May 10 doi: 10.1016/S2213-8587(16)00086-3. PMID: 27177728

Adrenal incidentaloma.

Arnaldi G, Boscaro M
Best Pract Res Clin Endocrinol Metab 2012 Aug;26(4):405-19. Epub 2012 May 22 doi: 10.1016/j.beem.2011.12.006. PMID: 22863384

See all (2158)

Diagnosis

Cushing Syndrome: A Review.

Reincke M, Fleseriu M
JAMA 2023 Jul 11;330(2):170-181. doi: 10.1001/jama.2023.11305. PMID: 37432427

Mechanism, diagnosis, and treatment of cyclic Cushing's syndrome: A review.

Cai Y, Ren L, Tan S, Liu X, Li C, Gang X, Wang G
Biomed Pharmacother 2022 Sep;153:113301. Epub 2022 Jun 17 doi: 10.1016/j.biopha.2022.113301. PMID: 35717778

Cushing's syndrome: Treatment and new therapeutic approaches.

Ferriere A, Tabarin A
Best Pract Res Clin Endocrinol Metab 2020 Mar;34(2):101381. Epub 2020 Jan 30 doi: 10.1016/j.beem.2020.101381. PMID: 32035797

Cushing's syndrome.

Barnett R
Lancet 2016 Aug 13;388(10045):649. doi: 10.1016/s0140-6736(16)31280-6. PMID: 27551694

Cushing syndrome.

Klein J, Vuguin P, Hyman S
Pediatr Rev 2014 Sep;35(9):405-7. doi: 10.1542/pir.35-9-405. PMID: 25183777

See all (4097)

Therapy

Cushing's syndrome.

Gadelha M, Gatto F, Wildemberg LE, Fleseriu M
Lancet 2023 Dec 9;402(10418):2237-2252. Epub 2023 Nov 17 doi: 10.1016/S0140-6736(23)01961-X. PMID: 37984386

Approach to the Patient: Diagnosis of Cushing Syndrome.

Savas M, Mehta S, Agrawal N, van Rossum EFC, Feelders RA
J Clin Endocrinol Metab 2022 Nov 23;107(11):3162-3174. doi: 10.1210/clinem/dgac492. PMID: 36036941 Free PMC Article

Cushing's syndrome: Treatment and new therapeutic approaches.

Ferriere A, Tabarin A
Best Pract Res Clin Endocrinol Metab 2020 Mar;34(2):101381. Epub 2020 Jan 30 doi: 10.1016/j.beem.2020.101381. PMID: 32035797

Cushing syndrome.

Klein J, Vuguin P, Hyman S
Pediatr Rev 2014 Sep;35(9):405-7. doi: 10.1542/pir.35-9-405. PMID: 25183777

Cushing's syndrome.

Prague JK, May S, Whitelaw BC
BMJ 2013 Mar 27;346:f945. doi: 10.1136/bmj.f945. PMID: 23535464

See all (2229)

Prognosis

Epidemiology and mortality of Cushing's syndrome.

Hakami OA, Ahmed S, Karavitaki N
Best Pract Res Clin Endocrinol Metab 2021 Jan;35(1):101521. Epub 2021 Mar 15 doi: 10.1016/j.beem.2021.101521. PMID: 33766428

Pediatric adrenocortical tumours.

Pinto EM, Zambetti GP, Rodriguez-Galindo C
Best Pract Res Clin Endocrinol Metab 2020 May;34(3):101448. Epub 2020 Jul 3 doi: 10.1016/j.beem.2020.101448. PMID: 32636100

Is Follow-up of Adrenal Incidentalomas Always Mandatory?

Reimondo G, Muller A, Ingargiola E, Puglisi S, Terzolo M
Endocrinol Metab (Seoul) 2020 Mar;35(1):26-35. doi: 10.3803/EnM.2020.35.1.26. PMID: 32207261 Free PMC Article

Adrenal mild hypercortisolism.

Goddard GM, Ravikumar A, Levine AC
Endocrinol Metab Clin North Am 2015 Jun;44(2):371-9. doi: 10.1016/j.ecl.2015.02.009. PMID: 26038206

Adrenocorticotropin-secreting pancreatoblastoma.

Kletter GB, Sweetser DA, Wallace SF, Sawin RS, Rutledge JC, Geyer JR
J Pediatr Endocrinol Metab 2007 May;20(5):639-42. doi: 10.1515/jpem.2007.20.5.639. PMID: 17642425

See all (1353)

Clinical prediction guides

Cushing Syndrome: A Review.

Reincke M, Fleseriu M
JAMA 2023 Jul 11;330(2):170-181. doi: 10.1001/jama.2023.11305. PMID: 37432427

Diagnostic challenges in cyclic Cushing's syndrome: a systematic review.

Nowak E, Vogel F, Albani A, Braun L, Rubinstein G, Zopp S, Ritzel K, Beuschlein F, Theodoropoulou M, Reincke M
Lancet Diabetes Endocrinol 2023 Aug;11(8):593-606. Epub 2023 Jul 7 doi: 10.1016/S2213-8587(23)00150-X. PMID: 37429301

Approach to the Patient: Diagnosis of Cushing Syndrome.

Savas M, Mehta S, Agrawal N, van Rossum EFC, Feelders RA
J Clin Endocrinol Metab 2022 Nov 23;107(11):3162-3174. doi: 10.1210/clinem/dgac492. PMID: 36036941 Free PMC Article

Hirsutism in Women.

Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105

Cushing's Syndrome: Screening and Diagnosis.

Ceccato F, Boscaro M
High Blood Press Cardiovasc Prev 2016 Sep;23(3):209-15. Epub 2016 May 9 doi: 10.1007/s40292-016-0153-4. PMID: 27160717

See all (1460)

Recent systematic reviews

Diagnostic challenges in cyclic Cushing's syndrome: a systematic review.

Dynamic Testing for Differential Diagnosis of ACTH-Dependent Cushing Syndrome: A Systematic Review and Meta-analysis.

Ceccato F, Barbot M, Mondin A, Boscaro M, Fleseriu M, Scaroni C
J Clin Endocrinol Metab 2023 Apr 13;108(5):e178-e188. doi: 10.1210/clinem/dgac686. PMID: 36453141

The Effect of Endogenous Cushing Syndrome on All-cause and Cause-specific Mortality.

Limumpornpetch P, Morgan AW, Tiganescu A, Baxter PD, Nyawira Nyaga V, Pujades-Rodriguez M, Stewart PM
J Clin Endocrinol Metab 2022 Jul 14;107(8):2377-2388. doi: 10.1210/clinem/dgac265. PMID: 35486378 Free PMC Article

Time to Diagnosis in Cushing's Syndrome: A Meta-Analysis Based on 5367 Patients.

Rubinstein G, Osswald A, Hoster E, Losa M, Elenkova A, Zacharieva S, Machado MC, Hanzu FA, Zopp S, Ritzel K, Riester A, Braun LT, Kreitschmann-Andermahr I, Storr HL, Bansal P, Barahona MJ, Cosaro E, Dogansen SC, Johnston PC, Santos de Oliveira R, Raftopoulos C, Scaroni C, Valassi E, van der Werff SJA, Schopohl J, Beuschlein F, Reincke M
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz136. PMID: 31665382

Cushing's syndrome and pregnancy outcomes: a systematic review of published cases.

Caimari F, Valassi E, Garbayo P, Steffensen C, Santos A, Corcoy R, Webb SM
Endocrine 2017 Feb;55(2):555-563. Epub 2016 Oct 4 doi: 10.1007/s12020-016-1117-0. PMID: 27704478

See all (62)

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Cushing syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

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