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Late-onset isolated ACTH deficiency

MedGen UID:
1651973
•Concept ID:
C4751433
•
Disease or Syndrome
Synonyms: Late-onset isolated ACTH (adrenocorticotropic hormone) deficiency; late-onset isolated ACTH deficiency; Late-onset isolated adrenocorticotropic hormone deficiency
SNOMED CT: Late-onset isolated ACTH deficiency (773989002); Late-onset isolated adrenocorticotropic hormone deficiency (773989002); Late-onset isolated ACTH (adrenocorticotropic hormone) deficiency (773989002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016042
Orphanet: ORPHA199299

Definition

A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto''s thyroiditis has been described. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLate-onset isolated ACTH deficiency

Recent clinical studies

Etiology

Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report.
Kojima N, Koriyama N, Tokito A, Ogiso K, Kusumoto K, Kubo S, Nishio Y
BMC Endocr Disord 2020 Apr 16;20(1):50. doi: 10.1186/s12902-020-0536-3. PMID: 32299407Free PMC Article
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Flück CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S
J Clin Endocrinol Metab 2012 Mar;97(3):E486-95. Epub 2011 Dec 14 doi: 10.1210/jc.2011-1659. PMID: 22170728
Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency.
Pham LL, Garot C, Brue T, Brauner R
PLoS One 2011;6(10):e26516. Epub 2011 Oct 18 doi: 10.1371/journal.pone.0026516. PMID: 22028893Free PMC Article
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.
Nyström HF, Saveanu A, Barbosa EJ, Barlier A, Enjalbert A, Glad C, Palming J, Johannsson G, Brue T
Pituitary 2011 Sep;14(3):208-16. doi: 10.1007/s11102-010-0278-8. PMID: 21132537
The incidence of late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency among hirsute women.
Mathieson J, Couzinet B, Wekstein-Noel S, Nahoul K, Turpin G, Schaison G
Clin Endocrinol (Oxf) 1992 Apr;36(4):383-8. doi: 10.1111/j.1365-2265.1992.tb01464.x. PMID: 1330378

Diagnosis

PD-1/PD-L1 inhibitors associated hypophysitis: An analysis from the FAERS database and case reports.
Chen S, Ouyang L, Li L, Xiao Y, Wang S
Drug Discov Ther 2024 Mar 20;18(1):34-43. Epub 2024 Feb 20 doi: 10.5582/ddt.2023.01092. PMID: 38382932
Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report.
Kojima N, Koriyama N, Tokito A, Ogiso K, Kusumoto K, Kubo S, Nishio Y
BMC Endocr Disord 2020 Apr 16;20(1):50. doi: 10.1186/s12902-020-0536-3. PMID: 32299407Free PMC Article
Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report.
Takeno A, Yamamoto M, Morita M, Tanaka S, Kanazawa I, Yamauchi M, Kaneko S, Sugimoto T
BMC Endocr Disord 2019 Feb 19;19(1):25. doi: 10.1186/s12902-019-0335-x. PMID: 30782163Free PMC Article
Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency.
Pham LL, Garot C, Brue T, Brauner R
PLoS One 2011;6(10):e26516. Epub 2011 Oct 18 doi: 10.1371/journal.pone.0026516. PMID: 22028893Free PMC Article
Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency.
Dewailly D, Vantyghem-Haudiquet MC, Sainsard C, Buvat J, Cappoen JP, Ardaens K, Racadot A, Lefebvre J, Fossati P
J Clin Endocrinol Metab 1986 Aug;63(2):418-23. doi: 10.1210/jcem-63-2-418. PMID: 3013919

Therapy

PD-1/PD-L1 inhibitors associated hypophysitis: An analysis from the FAERS database and case reports.
Chen S, Ouyang L, Li L, Xiao Y, Wang S
Drug Discov Ther 2024 Mar 20;18(1):34-43. Epub 2024 Feb 20 doi: 10.5582/ddt.2023.01092. PMID: 38382932
Late-onset hypophysitis after discontinuation of nivolumab treatment for advanced skin melanoma: a case report.
Antoniou S, Bazazo G, Röckl L, Papadakis M, Berg C
BMC Endocr Disord 2021 Sep 20;21(1):191. doi: 10.1186/s12902-021-00854-y. PMID: 34544399Free PMC Article
Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report.
Takeno A, Yamamoto M, Morita M, Tanaka S, Kanazawa I, Yamauchi M, Kaneko S, Sugimoto T
BMC Endocr Disord 2019 Feb 19;19(1):25. doi: 10.1186/s12902-019-0335-x. PMID: 30782163Free PMC Article
Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency.
Pham LL, Garot C, Brue T, Brauner R
PLoS One 2011;6(10):e26516. Epub 2011 Oct 18 doi: 10.1371/journal.pone.0026516. PMID: 22028893Free PMC Article
Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency.
Feldman S, Billaud L, Thalabard JC, Raux-Demay MC, Mowszowicz I, Kuttenn F, Mauvais-Jarvis P
J Clin Endocrinol Metab 1992 Mar;74(3):635-9. doi: 10.1210/jcem.74.3.1310999. PMID: 1310999

Prognosis

Late-onset hypophysitis after discontinuation of nivolumab treatment for advanced skin melanoma: a case report.
Antoniou S, Bazazo G, Röckl L, Papadakis M, Berg C
BMC Endocr Disord 2021 Sep 20;21(1):191. doi: 10.1186/s12902-021-00854-y. PMID: 34544399Free PMC Article
Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report.
Kojima N, Koriyama N, Tokito A, Ogiso K, Kusumoto K, Kubo S, Nishio Y
BMC Endocr Disord 2020 Apr 16;20(1):50. doi: 10.1186/s12902-020-0536-3. PMID: 32299407Free PMC Article
Late-onset isolated adrenocorticotropic hormone deficiency caused by nivolumab: a case report.
Takeno A, Yamamoto M, Morita M, Tanaka S, Kanazawa I, Yamauchi M, Kaneko S, Sugimoto T
BMC Endocr Disord 2019 Feb 19;19(1):25. doi: 10.1186/s12902-019-0335-x. PMID: 30782163Free PMC Article
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJ
Eur J Endocrinol 2004 Oct;151(4):463-5. doi: 10.1530/eje.0.1510463. PMID: 15476446
The incidence of late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency among hirsute women.
Mathieson J, Couzinet B, Wekstein-Noel S, Nahoul K, Turpin G, Schaison G
Clin Endocrinol (Oxf) 1992 Apr;36(4):383-8. doi: 10.1111/j.1365-2265.1992.tb01464.x. PMID: 1330378

Clinical prediction guides

Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report.
Kojima N, Koriyama N, Tokito A, Ogiso K, Kusumoto K, Kubo S, Nishio Y
BMC Endocr Disord 2020 Apr 16;20(1):50. doi: 10.1186/s12902-020-0536-3. PMID: 32299407Free PMC Article
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJ
Eur J Endocrinol 2004 Oct;151(4):463-5. doi: 10.1530/eje.0.1510463. PMID: 15476446
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.
Pernasetti F, Toledo SP, Vasilyev VV, Hayashida CY, Cogan JD, Ferrari C, Lourenço DM Jr, Mellon PL
J Clin Endocrinol Metab 2000 Jan;85(1):390-7. doi: 10.1210/jcem.85.1.6324. PMID: 10634415
Development of plasma 21-deoxycortisol radioimmunoassay and application to the diagnosis of patients with 21-hydroxylase deficiency.
Milewicz A, Vecsei P, Korth-Schütz S, Haack D, Rösler A, Lichtwald K, Lewicka S, von Mittelstaedt G
J Steroid Biochem 1984 Aug;21(2):185-91. doi: 10.1016/0022-4731(84)90382-0. PMID: 6090811

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