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Features include always present findings: Decreased circulating cortisol level; and common findings: Hyperpigmentation of the skin. 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 1 | Decreased circulating cortisol level |
TXNRD2 function has not been fully characterized.
Glucocorticoid deficiency 5 is associated with mutations in the TXNRD2 gene on chromosome 22.
Genetic testing for TXNRD2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for glucocorticoid deficiency 5 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for glucocorticoid deficiency 5.
145 publications have been identified in PubMed for glucocorticoid deficiency 5. Kisho has analyzed 69 by research type. Research spans Review / Meta-Analysis (28%), Epidemiology / Natural History (23%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 19 | 28% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:12 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1 |
Decreased circulating cortisol level |
Skin | 1 | Hyperpigmentation of the skin |
Disease patterns and progression
16 |
23% |
Patient case studies | 11 | 16% |
Laboratory research | 11 | 16% |
Clinical study results | 10 | 14% |
Testing and diagnosis research | 2 | 3% |
Hu H (2026). [PMID: 41663302](https://pubmed.ncbi.nlm.nih.gov/41663302/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Fanis P (2026). [PMID: 42198415](https://pubmed.ncbi.nlm.nih.gov/42198415/). *Pharmaceuticals (Basel)*. [Review / Meta-Analysis]
Lawrence NR (2026). [PMID: 41823987](https://pubmed.ncbi.nlm.nih.gov/41823987/). *Eur J Endocrinol*. [Epidemiology / Natural History]
Zhai Z (2026). [PMID: 41727461](https://pubmed.ncbi.nlm.nih.gov/41727461/). *Front Immunol*. [Epidemiology / Natural History]
Wang S (2026). [PMID: 41038576](https://pubmed.ncbi.nlm.nih.gov/41038576/). *Endocr Pract*. [Review / Meta-Analysis]
Kitamura Y (2026). [PMID: 41252280](https://pubmed.ncbi.nlm.nih.gov/41252280/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Roxas A (2026). [PMID: 41782560](https://pubmed.ncbi.nlm.nih.gov/41782560/). *Endocr Connect*. [Epidemiology / Natural History]
Sarafoglou K (2026). [PMID: 41052298](https://pubmed.ncbi.nlm.nih.gov/41052298/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]
Neumann U (2025). [PMID: 40094399](https://pubmed.ncbi.nlm.nih.gov/40094399/). *Endocr Connect*. [Review / Meta-Analysis]
Li M (2025). [PMID: 40820642](https://pubmed.ncbi.nlm.nih.gov/40820642/). *Clin Endocrinol (Oxf)*. [Review / Meta-Analysis]