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late-onset isolated ACTH deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

late-onset isolated ACTH deficiency

MONDO:0016042

Overview

Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for 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.

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, and Adrenocorticotropic hormone deficiency; and very common findings: Lethargy, Muscle weakness, Failure to thrive, and Weight loss and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	6	Diarrhea, Nausea and vomiting, Constipation

Prognosis

Phenotype severity distribution: 3 always present features, 13 very common features, 9 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for late-onset isolated ACTH deficiency.

6 publications have been identified in PubMed for late-onset isolated ACTH deficiency. Research spans Case Report / Case Series (83%) and Review / Meta-Analysis (17%).

Recent Publications

Oueslati I (2026). [PMID: 41389720](https://pubmed.ncbi.nlm.nih.gov/41389720/). *Annales d'endocrinologie*. [Case Report / Case Series]
Eisa N (2026). [PMID: 41980799](https://pubmed.ncbi.nlm.nih.gov/41980799/). *BMJ Case Rep*. [Case Report / Case Series]
Navabi K (2025). [PMID: 40861719](https://pubmed.ncbi.nlm.nih.gov/40861719/). *Cureus*. [Case Report / Case Series]
Ogbodu K (2025). [PMID: 40416222](https://pubmed.ncbi.nlm.nih.gov/40416222/). *Cureus*. [Case Report / Case Series]
Yıldız M (2025). [PMID: 39713897](https://pubmed.ncbi.nlm.nih.gov/39713897/). *Journal of clinical research in pediatric endocrinology*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:199299

GARD

Genetic and Rare Diseases Info Center

GARD:20331

Questions for Your Care Team

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late-onset isolated ACTH deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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