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isolated adrenal insufficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated adrenal insufficiency

MONDO:0100315

Overview

An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.

Patient Orgs1 organizations · Adrenal Insufficiency United

ResearchLimited published research (5 articles)

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 isolated adrenal insufficiency.

5 publications have been identified in PubMed for isolated adrenal insufficiency. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Clinical Trial Publication (20%).

Recent Publications

Miller WL (2025). [PMID: 39574227](https://pubmed.ncbi.nlm.nih.gov/39574227/). *The Journal of clinical endocrinology and metabolism*. [Basic Science / Preclinical]
Theiler-Schwetz V (2025). [PMID: 39862267](https://pubmed.ncbi.nlm.nih.gov/39862267/). *Annals of medicine*. [Clinical Trial Publication]
Ovalles Lacruz A (2024). [PMID: 39525095](https://pubmed.ncbi.nlm.nih.gov/39525095/). *Cureus*. [Case Report / Case Series]
Matsushiro M (2024). [PMID: 39040756](https://pubmed.ncbi.nlm.nih.gov/39040756/). *Cureus*. [Case Report / Case Series]
Altinkilic EM (2024). [PMID: 38913505](https://pubmed.ncbi.nlm.nih.gov/38913505/). *The Journal of endocrinology*. [Basic Science / Preclinical]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Adrenal Insufficiency UnitedPrimary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

Questions for Your Care Team

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Kisho

isolated adrenal insufficiency

Overview

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Two contrasting cases of adrenal insufficiency in adults: a case report.

isolated adrenal insufficiency

Overview

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Two contrasting cases of adrenal insufficiency in adults: a case report.