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inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

MONDO:0017337

Overview

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

ResearchLimited published research (4 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 very common findings: Cryptorchidism, Ambiguous genitalia, male, Male pseudohermaphroditism, and Renal salt wasting and others; and common findings: Adrenal hypoplasia, Premature birth, Elevated circulating follicle stimulating hormone level, and Elevated circulating luteinizing hormone level. 51 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	5	Delayed puberty, Decreased circulating cortisol level, Primary adrenal insufficiency

Prognosis

Phenotype severity distribution: 43 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency.

4 publications have been identified in PubMed for inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency. Research spans Review / Meta-Analysis (100%).

Recent Publications

İsakoca M (2025). [PMID: 39713884](https://pubmed.ncbi.nlm.nih.gov/39713884/). *Journal of clinical research in pediatric endocrinology*. [Review / Meta-Analysis]
Varughese R (2025). [PMID: 39891580](https://pubmed.ncbi.nlm.nih.gov/39891580/). *Endocrine reviews*. [Review / Meta-Analysis]
Cetin SK (2025). [PMID: 40353455](https://pubmed.ncbi.nlm.nih.gov/40353455/). *Turkish archives of pediatrics*. [Review / Meta-Analysis]
Slominski RM (2024). [PMID: 38927967](https://pubmed.ncbi.nlm.nih.gov/38927967/). *Cancers*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Financial & Access Support (External Programs)

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Adrenal Insufficiency Fund

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:289548

GARD

Genetic and Rare Diseases Info Center

GARD:21143

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inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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