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ACTH-dependent Cushing syndrome

MedGen UID:
575036
Concept ID:
C0342442
Disease or Syndrome
Synonyms: ACTH hypersecretion, pituitary; ACTH-dependent CS; ACTH-dependent Cushing's syndrome; Adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome; Adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome; adrenocorticotropic hormone, inappropriate secretion; Adrenocorticotropic hormone-dependent Cushing syndrome; adrenocorticotropic hormone-dependent Cushing syndrome; corticotropin-dependent Cushing syndrome; Corticotropin-dependent Cushing syndrome; overproduction of ACTH; pituitary Cushing disease; pituitary Cushing diseases; pituitary Cushing syndrome; pituitary-dependent Cushing disease; pituitary-dependent Cushing's disease
SNOMED CT: Adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (237734007); Adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome (237734007); Adrenocorticotropic hormone-dependent Cushing syndrome (237734007); ACTH-dependent Cushing's syndrome (237734007)
 
Related genes: USP8, AIP
 
Monarch Initiative: MONDO:0020528
Orphanet: ORPHA99892

Definition

A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). [from ORDO]

Professional guidelines

PubMed

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
Wang H, Ba Y, Xing Q, Cai RC
BMC Endocr Disord 2020 Sep 17;20(1):143. doi: 10.1186/s12902-020-00623-3. PMID: 32943040Free PMC Article
Vassiliadi DA, Tsagarakis S
Eur J Endocrinol 2018 May;178(5):R201-R214. Epub 2018 Feb 22 doi: 10.1530/EJE-18-0007. PMID: 29472379

Recent clinical studies

Etiology

Bonnet-Serrano F, Poirier J, Vaczlavik A, Laguillier-Morizot C, Blanchet B, Baron S, Guignat L, Bessiene L, Bricaire L, Groussin L, Assié G, Guibourdenche J, Bertherat J
Eur J Endocrinol 2022 Aug 1;187(2):315-322. Epub 2022 Jul 4 doi: 10.1530/EJE-22-0208. PMID: 35699971
Walia R, Dutta A, Gupta N, Bhansali A, Pivonello R, Ahuja CK, Dhandapani S, Dutta P, Bhadada SK, Simeoli C, Hajela A, Sachdeva N, Saikia UN
Endocr Pract 2021 May;27(5):471-477. Epub 2020 Dec 15 doi: 10.1016/j.eprac.2020.11.014. PMID: 33853717
Szabo Yamashita T, Sada A, Bancos I, Young WF, Dy BM, Farley DR, Lyden ML, Thompson GB, McKenzie TJ
Ann Surg Oncol 2020 Oct;27(10):3851-3857. Epub 2020 May 9 doi: 10.1245/s10434-020-08451-4. PMID: 32388739
Zhou J, Ju H, Zhu L, Pan Y, Lv J, Zhang Y
Nucl Med Commun 2019 May;40(5):539-544. doi: 10.1097/MNM.0000000000000989. PMID: 30973841
Yogi-Morren D, Habra MA, Faiman C, Bena J, Hatipoglu B, Kennedy L, Weil RJ, Hamrahian AH
Endocr Pract 2015 Oct;21(10):1098-103. Epub 2015 Jun 29 doi: 10.4158/EP15662.OR. PMID: 26121435

Diagnosis

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
Walia R, Dutta A, Gupta N, Bhansali A, Pivonello R, Ahuja CK, Dhandapani S, Dutta P, Bhadada SK, Simeoli C, Hajela A, Sachdeva N, Saikia UN
Endocr Pract 2021 May;27(5):471-477. Epub 2020 Dec 15 doi: 10.1016/j.eprac.2020.11.014. PMID: 33853717
Perlman JE, Johnston PC, Hui F, Mulligan G, Weil RJ, Recinos PF, Yogi-Morren D, Salvatori R, Mukherjee D, Gallia G, Kennedy L, Hamrahian AH
J Clin Endocrinol Metab 2021 Apr 23;106(5):e1953-e1967. doi: 10.1210/clinem/dgab012. PMID: 33421066Free PMC Article
Elliott PF, Berhane T, Ragnarsson O, Falhammar H
J Clin Endocrinol Metab 2021 Jan 23;106(2):598-608. doi: 10.1210/clinem/dgaa488. PMID: 32710791
Raff H
Endocrinol Metab Clin North Am 2015 Mar;44(1):43-50. Epub 2014 Nov 4 doi: 10.1016/j.ecl.2014.10.005. PMID: 25732641

Therapy

Saishouji F, Maeda S, Hamada H, Kimura N, Tamanoi A, Nishida S, Sakaguchi M, Igata M, Yokoo K, Kawakami F, Araki E, Kondo T
BMC Endocr Disord 2022 Jul 19;22(1):184. doi: 10.1186/s12902-022-01090-8. PMID: 35854271Free PMC Article
Bonnet-Serrano F, Poirier J, Vaczlavik A, Laguillier-Morizot C, Blanchet B, Baron S, Guignat L, Bessiene L, Bricaire L, Groussin L, Assié G, Guibourdenche J, Bertherat J
Eur J Endocrinol 2022 Aug 1;187(2):315-322. Epub 2022 Jul 4 doi: 10.1530/EJE-22-0208. PMID: 35699971
Lupu J, Pages C, Laly P, Delyon J, Laloi M, Petit A, Basset-Seguin N, Oueslati I, Zagdanski AM, Young J, Bouche C, Lebbé C, Gautier JF
Melanoma Res 2017 Dec;27(6):649-652. doi: 10.1097/CMR.0000000000000405. PMID: 29036015

Prognosis

Ferri J, Martínez-Ibañez J, Terradez L, Savall E, Martínez-Hervás S, Oller MC, Lorente R, Ascaso JF, Real JT
Endocrinol Diabetes Nutr (Engl Ed) 2022 Nov;69(9):694-701. doi: 10.1016/j.endien.2022.11.004. PMID: 36470644
Perlman JE, Johnston PC, Hui F, Mulligan G, Weil RJ, Recinos PF, Yogi-Morren D, Salvatori R, Mukherjee D, Gallia G, Kennedy L, Hamrahian AH
J Clin Endocrinol Metab 2021 Apr 23;106(5):e1953-e1967. doi: 10.1210/clinem/dgab012. PMID: 33421066Free PMC Article
Elliott PF, Berhane T, Ragnarsson O, Falhammar H
J Clin Endocrinol Metab 2021 Jan 23;106(2):598-608. doi: 10.1210/clinem/dgaa488. PMID: 32710791
Sahin NM, Avci Z, Malbora B, Abaci A, Kinik ST, Ozbek NY
J Pediatr Endocrinol Metab 2013;26(9-10):967-70. doi: 10.1515/jpem-2012-0401. PMID: 23729555
Farage M, Costa MA, Godoy-Matos AF
Arq Bras Endocrinol Metabol 2012 Jul;56(5):324-30. doi: 10.1590/s0004-27302012000500008. PMID: 22911286

Clinical prediction guides

Andereggen L, Gralla J, Christ E
Acta Neurochir (Wien) 2024 Apr 3;166(1):167. doi: 10.1007/s00701-024-06058-2. PMID: 38565838Free PMC Article
Perlman JE, Johnston PC, Hui F, Mulligan G, Weil RJ, Recinos PF, Yogi-Morren D, Salvatori R, Mukherjee D, Gallia G, Kennedy L, Hamrahian AH
J Clin Endocrinol Metab 2021 Apr 23;106(5):e1953-e1967. doi: 10.1210/clinem/dgab012. PMID: 33421066Free PMC Article
Radvany MG, Quinones-Hinojosa A, Gallia GL, Wand GS, Salvatori R
Endocr Pract 2016 Sep;22(9):1057-61. Epub 2016 May 23 doi: 10.4158/EP161266.OR. PMID: 27214296
Reich A, Bednarek-Tupikowska Z, Czarnecka A, Szepietowski JC
Acta Dermatovenerol Croat 2006;14(1):30-4. PMID: 16603099
Avgerinos PC, Yanovski JA, Oldfield EH, Nieman LK, Cutler GB Jr
Ann Intern Med 1994 Sep 1;121(5):318-27. doi: 10.7326/0003-4819-121-5-199409010-00002. PMID: 8042820

Recent systematic reviews

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
Elliott PF, Berhane T, Ragnarsson O, Falhammar H
J Clin Endocrinol Metab 2021 Jan 23;106(2):598-608. doi: 10.1210/clinem/dgaa488. PMID: 32710791
Wang H, Ba Y, Xing Q, Cai RC
BMC Endocr Disord 2020 Sep 17;20(1):143. doi: 10.1186/s12902-020-00623-3. PMID: 32943040Free PMC Article
Seltzer J, Lucas J, Commins D, Lerner O, Lerner A, Carmichael JD, Zada G
Neurosurg Focus 2015 Feb;38(2):E10. doi: 10.3171/2014.10.FOCUS14685. PMID: 25639312

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