CYP11B1 encodes cytochrome P450 family 11 subfamily B member 1 (503 aa). A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Highest expression in Adrenal Gland (4,787 TPM) and Testis (6.4 TPM).

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is associated with mutations in the CYP11B1 gene on chromosome 8.

The CYP11B1 protein participates in Cytochrome P450 (CYP11B1 based), CYP11B1 oxidises 11DCORT, and Defective CYP11B1 does not oxidise 11DCORT pathways.

CYP11B1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 8.7.

Genetic testing for CYP11B1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 11 very common features, 15 common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

No clinical trials have been registered for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.

16 publications have been identified in PubMed for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Research spans Case Report / Case Series (44%), Epidemiology / Natural History (19%), and Clinical Trial Publication (13%).

Recent Publications

• Janot C (2026). [PMID: 40827356](https://pubmed.ncbi.nlm.nih.gov/40827356/). *The Journal of clinical endocrinology and metabolism*. [Clinical Trial Publication]

• Mercado Santis E (2025). [PMID: 39952853](https://pubmed.ncbi.nlm.nih.gov/39952853/). *Anales de pediatria*. [Clinical Trial Publication]

• Lin M (2025). [PMID: 39863566](https://pubmed.ncbi.nlm.nih.gov/39863566/). *Zhonghua nei ke za zhi*. [Epidemiology / Natural History]

• Janot C (2025). [PMID: 40819900](https://pubmed.ncbi.nlm.nih.gov/40819900/). *Journal of medical genetics*. [Case Report / Case Series]

• Machineni P (2025). [PMID: 41234966](https://pubmed.ncbi.nlm.nih.gov/41234966/). *Cureus*. [Case Report / Case Series]

• Mazzeo P (2025). [PMID: 40255231](https://pubmed.ncbi.nlm.nih.gov/40255231/). *Case reports in endocrinology*. [Case Report / Case Series]

• Kelestemur E (2025). [PMID: 40296768](https://pubmed.ncbi.nlm.nih.gov/40296768/). *European journal of endocrinology*. [Case Report / Case Series]

• Larasati IA (2025). [PMID: 41134091](https://pubmed.ncbi.nlm.nih.gov/41134091/). *Journal of clinical research in pediatric endocrinology*. [Epidemiology / Natural History]

• İsakoca M (2025). [PMID: 39713884](https://pubmed.ncbi.nlm.nih.gov/39713884/). *Journal of clinical research in pediatric endocrinology*. [Review / Meta-Analysis]

• Liu J (2024). [PMID: 39402525](https://pubmed.ncbi.nlm.nih.gov/39402525/). *BMC endocrine disorders*. [Case Report / Case Series]