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Cushing syndrome

MedGen UID:
3681
Concept ID:
C0010481
Disease or Syndrome
Synonyms: ACTH-independent macronodular adrenal hyperplasia, somatic; 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.
 
Related genes: 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]

Professional guidelines

PubMed

Laurent MR, Goemaere S, Verroken C, Bergmann P, Body JJ, Bruyère O, Cavalier E, Rozenberg S, Lapauw B, Gielen E
Front Endocrinol (Lausanne) 2022;13:908727. Epub 2022 Jun 9 doi: 10.3389/fendo.2022.908727. PMID: 35757436Free PMC Article
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: 35471718Free PMC Article
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

Recent clinical studies

Etiology

Castinetti F, Brue T
Ann Endocrinol (Paris) 2022 Jun;83(3):188-190. Epub 2022 Apr 17 doi: 10.1016/j.ando.2022.04.001. PMID: 35443159
Capatina C, Fleseriu M
Curr Opin Endocrinol Diabetes Obes 2021 Jun 1;28(3):330-336. doi: 10.1097/MED.0000000000000630. PMID: 33741780
Marques JVO, Boguszewski CL
Best Pract Res Clin Endocrinol Metab 2021 Mar;35(2):101487. Epub 2021 Jan 20 doi: 10.1016/j.beem.2021.101487. PMID: 33518458
Lie C, Liew CF, Oon HH
Clin Dermatol 2018 Jan-Feb;36(1):54-61. Epub 2017 Sep 8 doi: 10.1016/j.clindermatol.2017.09.009. PMID: 29241753
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

Diagnosis

Reincke M, Fleseriu M
JAMA 2023 Jul 11;330(2):170-181. doi: 10.1001/jama.2023.11305. PMID: 37432427
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
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
Nieman LK
Endocrinol Metab Clin North Am 2018 Jun;47(2):259-273. doi: 10.1016/j.ecl.2018.02.001. PMID: 29754631
Raff H, Carroll T
J Physiol 2015 Feb 1;593(3):493-506. Epub 2015 Jan 5 doi: 10.1113/jphysiol.2014.282871. PMID: 25480800Free PMC Article

Therapy

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
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: 36036941Free PMC Article
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: 35471718Free PMC Article
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
Hopkins RL, Leinung MC
Endocrinol Metab Clin North Am 2005 Jun;34(2):371-84, ix. doi: 10.1016/j.ecl.2005.01.013. PMID: 15850848

Prognosis

Feelders RA, Nieman LK
Pituitary 2022 Oct;25(5):746-749. Epub 2022 Jul 26 doi: 10.1007/s11102-022-01261-9. PMID: 35881275Free PMC Article
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
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
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
Steffensen C, Bak AM, Rubeck KZ, Jørgensen JO
Neuroendocrinology 2010;92 Suppl 1:1-5. Epub 2010 Sep 10 doi: 10.1159/000314297. PMID: 20829610

Clinical prediction guides

Reincke M, Fleseriu M
JAMA 2023 Jul 11;330(2):170-181. doi: 10.1001/jama.2023.11305. PMID: 37432427
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: 36036941Free PMC Article
Mete O, Erickson LA, Juhlin CC, de Krijger RR, Sasano H, Volante M, Papotti MG
Endocr Pathol 2022 Mar;33(1):155-196. Epub 2022 Mar 14 doi: 10.1007/s12022-022-09710-8. PMID: 35288842Free PMC Article
Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105
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

Recent systematic reviews

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
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
Broersen LHA, Jha M, Biermasz NR, Pereira AM, Dekkers OM
Pituitary 2018 Dec;21(6):631-641. doi: 10.1007/s11102-018-0897-z. PMID: 29855779Free PMC Article
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
Graversen D, Vestergaard P, Stochholm K, Gravholt CH, Jørgensen JO
Eur J Intern Med 2012 Apr;23(3):278-82. Epub 2011 Nov 15 doi: 10.1016/j.ejim.2011.10.013. PMID: 22385888

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